Biochemistry cases

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Biochemistry cases
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Biochemistry cases
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  1. Case 1. A 70 year old female presents with hyponatraemia. In the past 3 days she has been ill with vomiting and diarrhoea.. Investigations: She appears dehydrated, and her skin has lost its turgidity. What is the likely cause for her hyponatraemia
    Sodium loss secondary to diarrhoea and vomiting. -
  2. Case 2. A 76 year old man presents with confusion and oedema.. Investigations: He is hyponatraemic. Additionally, his blood shows hypoalbuminamia, his urine shows protein and a little blood. What is the likely cause for his hyponatraemia
    Nephrotic syndrome -
  3. Case 3. A 56 year old woman presents with oedema and confusion, 7 hours into her treatment for DKA.. Investigations: She has hyponatraemia, no fever, and low blood osmolality. She has no signs of kidney failure and her urine is normal. What is the likely cause for her hyponatraemia
    inappropriate IV saline. -
  4. Case 4. A 78 year old woman presents with confusion. A collateral history reveals she has been taking ecstacy recently.. Investigations: Blood results show hyponatraemia and hypoosmolality. What are you concerned about?
    hyponatraemia - encephalopathy
  5. Case 5. a patient on the ward with metastatic lung cancer develops confusion and nausea.. Investigations: Blood results show hyponatraemia and hypoosmolality. What is the most likely cause for her hyponatraemia?
    SIADH due to malignancy. -
  6. Case 6. a patient on the ward IECOPD develops nausea and vomiting.. Investigations: Blood results show hyponatraemia and hypoosmolality. What is the most likely cause for her hyponatraemia?
    SIADH due to infection. -
  7. Case 7. A patient is seen in cardiac clinic with dyslipidaemia. They also have a hyponatraemia, with no symptoms of vomiting or confusion.. Investigations: Blood results are otherwise normal. What is the most likely cause for her hyponatraemia?
    Pseudohyponatraemia -
  8. Case 8. A 82 year old male on the ward is reported to be drowsier than usual by the nursing staff.. Investigations: Blood results show hypernatraemia and hyperosmolality. Urine is maximally concentrated. What is the most likely cause for hypernatraemia.
    Water loss due to reduced intake. -
  9. Case 9. A 9 year old boy on the ward with cholera develops confusion and weakness.. Investigations: Blood results show hypernatraemia and hyperosmolality. Low volume of urine, which is maximally concentrated. What is the most likely cause for hypernatraemia.
    Water loss due to increased loss. -
  10. Case 10. A 34 year old female on the ward with DKA develops confusion and fatigue.. Investigations: Blood results show high sodium, and high osmolality of blood. Her urine is of normal volume and concentration. What is the most likely cause for her hypernatraemia?
    Osmotic diuresis (diabetes mellitus) -
  11. Case 11. A 60 year old male presents with seizures.. Investigations: Blood results show high sodium, high osmolality of blood. His urine is of normal volume, and is normally concentrated. What are 2 possible causes for his hypernatraemia?
    Conn's syndrome or Cushing's syndrome. -
  12. Case 12. A three year old presents with seizures.. Investigations: Blood result shows gross hypernatraemia with no evidence of dehydration. Serum osmolality is high. What is the most likely cause for his hypernatraemia?
    Salt poisoning. -
  13. Case 13. A 45 year old female presents with muscle weakness and paraesthesia.. Investigations: ECG shows tall tented T waves and widening of the QRS complex. Blood results show metabolic acidosis. What is the cause of her muscle weakness?
    Hyperkalaemia due to metabolic acidosis. -
  14. Case 14. A 78 year old man presents with muscle weakness following chemotherapy for his AML.. Investigations: ECG shows tall 'tented' t waves. What is the the likely cause for her symptoms?
    Hyperkalaemia secondary to tumour lysis syndrome -
  15. Case 15. A 92 year old female presents with confusion, tremor and nystagmus, alongside muscle weakness.. Investigations: ECG shows tall, 'tented' t waves and widening of the QRS complex. Blood results show high potassium. What is the the likely cause for his symptoms?
    Rhabdomyalysis secondary to delerium tremens -
  16. Case 16. A 22 year old diabetic presents with vomiting and muscle weakness.. Investigations: They are metabolically acidotic and severely dehydrated. What else should you be worried about?
    Potassium levels -
  17. Case 17. A 25 year old male presents with recurrent attacks of muscle weakness, often whilst resting after excersize.. Investigations: A thorough family history reveals that his mother had similar attacks. What electolyte disturbance may cause these symptoms?
    Hyperkalaemic periodic paralyis. -
  18. Case 18. A 89 year old man with poorly controlled diabetes presents with confusion and falls.. Investigations: His blood results show acidosis, high urea, low GFR and high potassium What is the the likely cause for his hyperkalaemia?
    Renal failure -
  19. Case 19. A 78 year old woman with poorly controlled hypertension presents with muscle weakness and fatigue.. Investigations: Her bloods show hyperkalaemia, hyponatraemia and metabolic acidosis. In terms of medications she is on spironolactone, b blockers, ACE inhibitors and sartans. Which drug is most likely to be responsible for her blood results?
    Hypoaldosteronism - ACE inhibitors
  20. Case 20. A 45 year old male with AIDS presents with fatigue, fever and arrhythmias. He also has vomiting, nausea, diarrhoea and low blood sugar.. Investigations: ECG shows widened QRS interval and tall, tented T waves. Blood results show low WCC, high potassium and low potassium. What is the most likely cause for his symptoms
    Addisonian crisis - Tuberculosis.
  21. Case 21. A 65 year old woman is being investigated for hyperthyroidism. Her blood shows high potassium. She is otherwise well.. Investigations: All other blood results are normal. What is the most likely cause for this finding?
    Haemolysis of specimen. -
  22. Case 22. A 67 year old male patient presents with cramps and constipation.. Investigations:
    -
  23. Case 23. A 16 year old boy is admitted with arrhythmias. He is unusually small and slight and has a recent history of unexplained weight loss.. Investigations: His blood results show low potassium, low blood pressure, and ECG is abnormal. What might you consider?
    Anorexia nervosa -
  24. Case 24. A patient presents with cramps and nausea after a 24 hour 'tummy bug' involving nausea and diarrhoea.. Investigations: His bloods show a metabolic acidosis and a hypokalaemia. He has a high osmolality and high urea. What is the most likely explanation?
    Hypokalaemia secondary to diarrhoea -
  25. Case 25. A 65 year old man with a history of alcoholism and self-neglect is admitted following recurrent falls. 24 hours after arriving in hospital, they develop muscle cramps, respiratory depression.. Investigations: ECG shows flattened T waves, ST depression and a widened PR interval. What is the most likely explanation for these symptoms?
    Hypophosphataemia and hypokalaemia - due to refeeding syndrome
  26. Case 26. A 45 year old male brittle asthmatic is admitted with an acute attack. He develops respiratory depression.. Investigations: Several hours after admission his bloods show decreased potassium level. What is a possible explanation for this?
    Hypokalaemia secondary to b-agonists e.g. salbutamol. -
  27. Case 27. A 55 year old female is being treated for her pernicious anaemia.. Investigations: Incidental bloods sent off 2 days later show hypokalaemia. What is a possible explanation for this?
    Hypokalaemia due to uptake by new blood cells due to b12 treatment. -
  28. Case 28. A 26 year old male of chinese ethnicity presents with attacks of muscle weakness, which occur whilst resting after excersize. He also has a high resting heart rate and is slim.. Investigations: Low TSH, otherwise normal bloods. What should you consider?
    Hypokalaemic periodic paralysis. -
  29. Case 29. A 67 year old male presents with cramps and muscle weakness. He is currently taking furosemide for his blood pressure.. Investigations: ECG shows flattened T waves, ST depression. What is a possible explanation for this?
    Hypokalaemia due to diuretics -
  30. Case 30. A 45 year old male presents with cramps and muscle weakness.. Investigations: Blood tests show low potassium, with high urinary potassium. Magnesium is normal. What are the 2 possible explanations for this?
    Conn's syndrome or Cushing's syndrome. -
  31. Case 31. A 24 year old man is picked up by his GP as having hypertension, which is refractory to diurectics and ACE inhibitors. On questioning, he also suffers from cramps and constipation.. Investigations: Blood tests show low potassium. What syndrome may be responsible for this?
    Liddle's syndrome -
  32. Case 32. A 34 year old patient has become confused after an infection, which has precipitated SIADH. You have prescribed IV saline, which has been mistakenly administered as 1.8% saline, rather than 0.9% saline. The patient is currently drowsy and has a GCS of 9.. Investigations: The patient's sodium level has risen from 110mmol/l yesterday to 125mmol/l today What condition are you now concerned about?
    Central pontine myelinolysis -
  33. Case 33. A 45 year old female recently migrated from Chile presents with dehydration and thirst, . She is particularly short.. Investigations: She has low serum D3 and low calcium levels. On urine analysis, she has acidotic urine, with aminoaciduria and a proteinuria. What syndrome does this patient have, and what is the most likely cause?
    Fanconi syndrome - Heavy metal poisoning.
  34. Case 34. A 76 year old female is on the waiting list for a parathyroidectomy for her hyperparathyroidism. She is complaining of a fever and a colicky pain. Investigations: She has high calcium levels and high PTH levels. What is the most likely cause for her symptoms?
    Calcium phosphase renal stones. - Secondary to hyperparathyroidism.
  35. Case 35. A 45 year old female presents with jaundice.. Investigations: Urinalysis shows conjugated bilirubin. Having excluded diabetes, what is the most likely cause for her symptoms?
    Gallstone - Only conjugated bilirubin can be in the urine - must be a hepatic or post-hepatic cause.
  36. Case 36. A 56 year old man presents with confusion and multiple falls.. Investigations: Urinalysis shows ketones, but no glucose. Blood tests show no glucose. What is the most likely cause for his symptoms?
    Alcoholism - or prolonged fasting or vomiting.
  37. Case 37. A 34 year old female presents with traveller's diarrhoea after travelling to Asia. She seems unwell.. Investigations: Serum urea and creatinine are increased, particularly urea. There is a metabolic acidosis and hyperkalaemia. Urine is concentrated. What is the most likely cause for her abnormal investigations?
    Akute pre-renal kidney failure -
  38. Case 38. A 17 year old male presents with a fever, malaise and oliguria, 2 weeks after a pharyngitis.. Investigations: Hyperkalaemia, high urea and potassium, high urine sodum, low urine urea, low urine osmolality What is the most likely cause for his abnormal investigations
    Acute tubular necrosis - Secondary to glomerulonephritis
  39. Case 39. A 16 year old boy presents with fever, malaise and oliguria, 2 weeks after a pharyngitis. Investigations: Hyperkalaemia, high serum urea and potassium, low urine sodium, high urine urea, concentrated urine. What is the most likely cause for his abnormal investigations?
    Acute pre-renal kidney injury -
  40. Case 40. A 54 year old female presents 4 days after a serious car crash in Uruguay. Having been managed in Uruguay, on arrival at the UK hospital, she is reassessed.. Investigations: her serum urea is high, her serum creatinine is high, but her potassium is within normal range. Her urine osmolality is very low and she is dehydrated What is the most likely cause for her abnormal investigations?
    Acute tubular necrosis - In the diuretic phase.
  41. Case 41. A 76 year old patient with hypertension and renal failure presents with bone pain.. Investigations: Blood serum shows low calcium, high PTH, low vitamin D, high phosphate. What is the most likely cause?
    Renal osteodystrophy. -
  42. Case 42. A 87 year old male with CRF presents with fatigue and shortness of breath on exertion.. Investigations: Blood film shows a normochromic normocytic anaemia. What is the most likely cause
    Anaemia of chronic renal disease. -
  43. Case 43. A 79 year old male who attends clinic infrequently for his diabetes presents with Kussmaul breathing and nausea and headaches.. Investigations: Blood glucose is within normal range, GFR is reduced and urea and creatinine are increased. What is the most likely cause for his symptoms?
    Metabolic acidosis - Secondary to renal failure.
  44. Case 44. A 67 year old female with known hepatitis C presents with hyperventilation and confusion.. Investigations: Blood LDH is high, with a rise in potassium What is the most likely cause for her symptoms?
    Metabolic acidosis secondary to liver disease causing increased LDH. -
  45. Case 45. A 45 year old female presents after a paracetamol overdose of 140 tablets (unknown strength). She is breathing rapidly, and upset.. Investigations: Blood salicylate levels are high, and there is hyperkalaemia. What is the most likely cause for her symptoms?
    Metabolic acidosis secondary to salicylate acid ingestion. -
  46. Case 46. A 43 year old male with Crohn's disease has just undergone a fistula as surgical management of a recent flare up. He has begun to have headaches and feel nauseous 1 day post-operatively.. Investigations: There is no fever, and WCC is slightly raised. CRP is high, but reducing, and urea and creatinine are high, but reducing. Blood pH is low, with no anion gap. What is the most likely cause for his symptoms?
    Metabolic acidosis secondary to bicarbonate loss through fistula. -
  47. Case 47. A 4 day old male infant presents with poor feeding and vomiting. He has not passed meconium yet.. Investigations: His bloods show a significant metabolic alkalosis, and low potassium. What should you consider?
    Metabolic alkalosis secondary to pyloric stenosis. -
  48. Case 48. A 63 year old female has been nil by mouth for 3 days pending a SLT assessment. 3 hours after dinner, she complains of muscle weakness and cramps.. Investigations: Her bloods show hypokalaemia, metabolic alkalosis. What is the most probable diagnosis?
    Refeeding syndrome? -
  49. Case 49. A 78 year old male has been taking high dose furosemide to manage his high blood pressure. He has been complaining recently of falls, and of muscle weakness.. Investigations: An ECG shows flattened T waves, a prolonged PR interval and inverted ST waves. Bloods show metabolic alkalosis, and an acidic urine. What is the most likely cause?
    Metabolic alkalosis secondary to severe potassium depletion. -
  50. Case 50. A 87 year old female with a history of emphysema presents with shortness of breath. She has a fever and you hear some crackles in the left base of the lung.. Investigations: ABG shows acidosis, high CO2 and normal bicarbonate. What is the most likely cause
    Acute infection of lungs. - acute uncompensated respiratory acidosis
  51. Case 51. A 76 year old male with a history of smoking presents with some shortness of breath, which has been increasingly troublesome over the past year. He has no sputum production, no cough, no fever.. Investigations: ABG shows pH = 7.3, high CO2 and high bicarbonate. What is the most likely explanation for these results?
    Chronic emphysema - chronic compensated respiratory acidosis.
  52. Case 52. A 34 year old female presents with early morning headaches, nausea and some blurred vision.. Investigations: Blood tests are normal except for ABG which shows pH = 7.47, CO2 low and normal bicarbonate What is the most likely explanation of these results?
    Acute hyperventilation, possibly sue to raised intracranial pressure. -
  53. Case 53. A 83 year old male complains of weight loss and night sweats and fatigue.. Investigations: Blood tests are normal except for an elevated total protein concentration and a high ESR What should you consider and what would be your further investigations?
    Multiple myeloma - serum paraprotein, urine paraprotein (Bence-Jones protein), renal function.
  54. Case 54. A 74 year old female presents with a 1 week history of SOB, and a productive cough, after being discharged from hospital 2 weeks ago. She has a past history of smoking (65 pack years). Investigations: ABG shows low O2, high PCO2. Her CRP is high and sputum cultures grow Pseudomonas spp. What is the most likely explanation of these results?
    Bronchopneumonia - Type II respiratory failure.
  55. Case 55. A 68 year old male presents with a 2 week history of SOB, and a productive cough. He has a past history of smoking (45 pack years).. Investigations: ABG shows low O2, low PCO2. His CRP is high and sputum cultures grow H. influenza. What is the most likely explanation of these results?
    Lobar Pneumonia - Type I respiratory failure.
  56. Case 56. A 78 year old female with a history of haemachromatosis presents with oedema.. Investigations: Serum albumin is low. What is the most likely explanation of these results?
    Decreased liver function. -
  57. Case 57. A 76 year old diabetic male presents with shortness of breath.. Investigations: All blood results are normal except for a high Trop T. What is the most likely explanation of these results?
    Acute Coronary Syndrome -
  58. Case 58. A 45 year old female presents with a fever, dysuria and loin pain.. Investigations: Investigations show an acute phase response, and a polyclonal increase in immunoglobulin. What is the most likely cause for the polyclonal increase in immunoglobulin?
    Inflammatory. -
  59. Case 59. A 78 year old man presents with a 1 month history of fatigue, weight loss and bloating. Examination shows splenomegaly and palor.. Investigations: Bloods show increased IgM, blood film shows a normocytic anaemia with increased numbers of plasma cells. X ray shows a 'pepper pot' skull, and a small lesion in the pelvis. What is the diagnosis?
    Waldenstrom's macroglobulinaemia. -
  60. Case 60. A 40 year old woman presents with LUQ pain, which is worse on eating.. Investigations: Bilirubin and ALP are raised, AST and ALT are normal. What is the most likely diagnosis?
    Gallstone -
  61. Case 61. A 67 year old woman with known hepatitis C infection presents with a painful LUQ and jaundice.. Investigations: ALP is raised, gamma-GT is raised, and AST and ALT are raised compared to previous readings. What would you be concerned about?
    Hepatocellular carcinoma -
  62. Case 62. A 45 year old woman is taking routine pre-operative bloods.. Investigations: gamma-GT is slightly raised, ALP is normal, all other LFTs are normal. What is the most likely cause?
    Alcohol ingestion. - Can also be caused by phenytoin medication.
  63. Case 63. A 67 year old man with long standing non-alcoholic steatohepatitis (NASH) presents with a raised AST on routine screening bloods.. Investigations: Further blood tests show raised AFP and an increased prothrombin time. What are you concerned about?
    Hepatocellular carcinoma - Raised AFP is also caused by germ cell tumours
  64. Case 64. A 22 year old man presents with weight loss and night sweats.. Investigations: Blood tests show a raised AFP. AST, ALP and ALT are normal. What is the most likely diagnosis?
    Germ cell tumour -
  65. Case 65. A 2 day old baby presents with jaundice. The parent has delayed presenting, hoping that it will go away. The baby is handling poorly and begins to fit.. Investigations: Bloods show high unconjugated bilirubin. What are you concerned about?
    Kernicterus due to hyperbilirubinaemia. -
  66. Case 66. A 34 year old woman presents with jaundice. No other history is available.. Investigations: Bloods show high unconjugated bilirubin. What is the most likely cause?
    Haemolysis -
  67. Case 67. A 55 year old man presents with jaundice and pale stool and pale urine.. Investigations: There is raised ALP, conjugated bilirubin and an ERCP excludes a gallstone or carcinoma of the head of the pancreas as the cause, but cannot see any further. What is the most likely diagnosis?
    A metastatic neoplasm adjacent to the bile duct. -
  68. Case 68. A 65 year old woman with known cirrhosis presents with jaundice.. Investigations: LFT tests are not more raised or decreased than is usual for her, conjugated bilirubin in serum is raised. What is the most likely cause?
    Intrahepatic biliary obstruction. -
  69. Case 69. A 23 year old female presents unconscious in A and E with increased respiratory rate.. Investigations: LFT tests are deranged: AST, ALT, ALP and bilirubin are all raised. There is also a metabolic acidosis What is the most likely cause?
    Paracetamol overdose. -
  70. Case 70. A 9 year old girl presents with oedema and jaundice. She takes sodium valproate for her epilepsy.. Investigations: Her AST and ALT are both elevated, bilirubin is elevated, ALP is slightly elevated. What is the most likely cause>
    Sodium valproate poisoning. -
  71. Case 71. A 56 year old woman comes back from her journey of Asia with a 4 day history of malaise and nausea which.. Investigations: Her AST and ALT are not altered, but her ammonia and bilirubin are very high and her prothrombin time is doubled. What would you be concerned about?
    Fulminant hepatitis A - leading to liver failure.
  72. Case 72. A 47 year old male IV drug user presents with confusion and a fall.. Investigations: He has hyponatraemia, hypocalcaemia, metabolic acidosis anad hypoglycaemia. He also has high ammonia and increased prothrombin time. What would you be concerned about?
    Acute liver failure due to an infection. -
  73. Case 73. A 35 year old woman with a considerable history of foreign travel presents with a one day history of recurrent epistaxes.. Investigations: Her prothrombin time is increased, her AST and ALT are both within normal range, her bilirubin is increased, and her ammonia is considerably increased. What is the most likely cause for her symptoms?
    Acute liver failure due to fulminant hepatitis A -
  74. Case 74. A 39 year old man presents with bone pain and epigastric pain.. Investigations: FBC shows anaemia, blood film results are not yet back. AST, ALT, ALP, bilirubin are all raised, sodium and calcium levels are low and the patient is hypoglycaemic. Ammonia is high. What is the most likely cause for his symptoms?
    Acute liver failure due to sickle cell vasculo-occlusive crisis. -
  75. Case 75. A 4 week old baby has been jaundiced since birth. His father has emphysema.. Investigations: Blood tests show raised AST, ALT, ALP and raised bilirubin. Patient has hyponatraemia, hypocalcaemia, hypoglycaemia. What should you be concerned about?
    Acute liver failure due to a1 antitrypsin deficiency. -
  76. Case 76. A 46 year old female with a history of alcohol abuse presents with wound healing difficulties. She also has difficulties eating fatty meals, common coughs and colds and a persistent itch.. Investigations: Blood tests show normal LFTs except for prothrombin time, which is increased. What are you concerned about?
    Cirrhosis - due to longstanding alcohol ingestion.
  77. Case 77. A 74 year old woman from Kenya has worked most of her life on a maize farm. She presents with ascites.. Investigations: The ascites is tapped, which shows a bloody exudate, with some cells in (result pending). High serum AFP. What is the most likely cause?
    Primary hepatocellular carcinoma. - Possibly due to aflatoxin from contaminated maize.
  78. Case 78. A 10 year old boy presents with wasting, polyuria and polydipsia. Investigations: A blood glucose reads 18.3mmol/l What is the most likely cause?
    insulin dependant diabetes mellitus -
  79. Case 79. A 47 year old woman who suffers from being overweight has developed thirst and notices nocturia. She has also had a number of UTIs recently. Investigations: A HBa1c is particularly high, blood glucose is within normal limits. What is the most likely cause?
    non-insulin dependant diabetes mellitus. -
  80. Case 80. A 16 year old boy presents in a coma during a spell of pharyngitis. He has IDDM and is usually very rigorous about his insulin regime.. Investigations: His glucose is very high, and easily controlled with sliding scale insulin. Which two factors most likely contributed to this person's hyperglycaemia?
    Infection causes temporary insulin resistance (think 'sick day rules') and he is a growing boy with a constantly increasing demand for insulin. -
  81. Case 81. A 46 year old female with known diabetes presents with diarrhoea and nausea and flu-like symptoms.. Investigations: Her CRP is slightly raised, and her blood glucose is raised, with urine ketones. What is the cause of these findings and what 3 things are used in management?
    Diabetic ketoacidosis - Insulin, fluids, potassium.
  82. Case 82. A 73 year old man is on steroids for his temporal arteritis. He is also diabetic. Over the last few days he has noticed an increased tremor and thirst.. Investigations: He has hyperglycaemia, high sodium and high osmolality of blood. The urine is normal osmolality. What is the most likely cause and what other complication is he at risk for?
    Hyperosmolar diabetic kesoacidosis - thrombosis.
  83. Case 83. A 45 year old man presents with a tremor, nausea and vomiting. Over the past month he has noticed weight gain.. Investigations: Low glucose What two kinds of malignancy are you concerned about?
    Insulinoma, malignancy producing insulin-like growth factors. -
  84. Case 84. A 46 year old woman who is a known diabetic presents with a tremor and confusion.. Investigations: Low glucose, low c peptide What is the diagnosis?
    Exogenous insulin administration. -
  85. Case 85. A 36 year old man presents with tremors and clamminess and acute anxiety.They have high blood pressure, for which they take furosemide, an ACE inhibitor and b blockers.. Investigations: Low glucose What is the most likely cause for the hypoglycaemia?
    b blocker adverse effect. -
  86. Case 86. A 54 year old female presents in DKA.. Investigations: High glucose, urine ketones, metabolic acidosis How is her calcium likely to be affected?
    Increased free calcium - As calcium binding decreases in the presence of acidosis.
  87. Case 87. A 42 year old male presents with a 4 day history of vomiting and diarrhoea. He appears dehydrated.. Investigations: Low potassium, normal sodium, high osmolality, alkalosis. How is his calcium likely to be affected?
    Decreased free calcium - As calcium binding increases in the presence of alkalosis
  88. Case 88. A 16 year old female presents with oedema, malaise and a fever.. Investigations: Urine dip shows a little blood, significant proteinuria. Blood tests show hypoalbuminuria. How is her calcium likely to be affected?
    Total calcium is reduced, but unbound calcium remains normal. - She should therefore not be thought of as hypocalcaemic.
  89. Case 89. A 55 year old female experiences fatigue and insomnia, 4 weeks after her surgical thyroidectomy.. Investigations: TSH is normal, T4 is normal, Trousseau's sign is positive. What electrolyte disturbance might you expect, and what might be the cause?
    Hypoparathyroidism - Secondary to surgical damage.
  90. Case 90. A 76 year old woman has been admitted with heart failure, involving oedema and pulmonary oedema. For the past 4 days she has been on ACE inhibitors, furosemide, thiazide diuretics and b blockers. She has recently developed fasciculations, worsening heart. Investigations: Hypokalaemia, Hypocalcaemia, tremor, fasciculations, low PTH. What may be the underlying cause for her recent deterioration?
    Magnesium deficiency. - This is the commonest cause of hypocalcaemia in hospitals.
  91. Case 91. A 74 year old man presents complaining of a one month history of aches and pains in the lumbar area. This does not spread to his legs and there is no paraesthesia. Chvostek's sign is positive.. Investigations: Vitamin D is low, hypocalcaemia, low phosphate, low urinary phosphate, high ALP, high PTH. X ray results are pending. What is the most likely underlying illness?
    Osteomalacia. -
  92. Case 92. A 75 year old male with a history of renal failure presents with bone pain.. Investigations: Vitamin D is low, hypocalcaemia, hyperphosphataemia, high PTH, x ray shows 'rugger jersey' appearance What is the most likely cause for his bone pain?
    Renal osteodystrophy. -
  93. Case 93. A 65 year old female with a history of diabetes and hypertension presents with aches and pains in his thigh.. Investigations: Vitamin D is low, PTH is high, hypocalcemia, hyperphosphataemia, urea and creatinine is high. What is the most likely cause for his bone pain?
    Renal osteodystrophy. -
  94. Case 94. A 64 year old female presents with a 2 month history of low mood, thirst and aches and pains.. Investigations: Hypercalcaemia, hypoparathyroidism, high PTH. What is the most likely cause for these findings?
    Primary hyperparathyroidism -
  95. Case 95. A 57 year old female presents with arrhythmias. She notes that over the past months she has been nauseous, constipated and lost her appetite. 5 years ago she was treated curatively for stage II breast cancer.. Investigations: Hypercalcaemia, hypoparathyroidism, low PTH. What is the most likely cause for these findings?
    Hypercalcaemia of malignancy -
  96. Case 96. A 45 year old female presents with shortness of breath and a non-productive cough. She has no history of smoking.. Investigations: X ray shows bilateral lymphadenopathy, bloods show hypercalcaemia What is the most likely cause for these findings?
    Sarcoidosis -
  97. Case 97. A 53 year old male presents with thirst and polyuria, low mood, irritability.. Investigations: Blood tests show high calcium, high urea, high creatinine. What is the most likely cause for these findings?
    Secondary hyperparathyroidism - Secondary to renal disease.
  98. Case 98. A 26 year old man is found to have hypercalcaemia on blood tests for giving blood. He mentions that his mother often has hypercalcaemia on blood tests.. Investigations: All other blood results are normal. What should you consider?
    Familial hypocalciuric hypercalcaemia - Check urine calcium concentration, which should be low.
  99. Case 99. On blood tests for a 89 year old male, you notice hyperphosphataemia.. Investigations: There is an accompanying hypocalcaemia, PTH is raised. Creatinine and urea are raised What should you consider?
    Renal failure - Is the most common cause of hyperphosphataemia.
  100. Case 100. A 46 year old female presents with a renal stone.. Investigations: PTH is raised What might you expect calcium and phosphate results to be?
    Calcium: high, phosphate: low -
  101. Case 101. A 32 year old patient presents with nausea and a 5 day history of diarrhoea.. Investigations: Serum osmolality is high, hypernatraemia, alkalosis How would you expect phosphate levels to change?
    Hypophosphataemia. -
  102. Case 102. A 32 year old female has been in hospital for 3 weeks after a road traffic accident. Of recent she has complained of irritability. She has a positive Trousseau's sign.. Investigations: She is hypocalcaemic, with hyperhosphataemia, and her PTH is low. What is the most likely cause of these symptoms?
    Hypoparathyroidism - secondary to hypomagnesaemia (most common cause of hypocalcaemia in hospital)
  103. Case 103. A 86 year old female with a history of hypertension has blood tests to investigate for dermatomyositis, as she has been complaining of muscle weakness and tremor.. Investigations: CRP and ESR are normal. She does incidentally have high magnesium levels. What might you be concerned about?
    Renal failure - Hypermagnesaemia is uncommon but is usually due to renal failure.
  104. Case 104. A 43 year old male has been on 4 days of nasogastric suction after GI surgery for acute appendicitis. Over the past 6 hours, he has developed a tremor, and muscle weakness. He has a positive Trousseau's sign.. Investigations: What electrolyte disturbance would you be concerned about?
    Hypomagnaesaemia - Causing hypoparathyroidism.
  105. Case 105. A 76 year old female presents with a hip fracture due to a fall whilst getting out of bed.. Investigations: Biochemistry is unremarkable. What x ray features might you expect to find?
    Osteoporosis - thoracic kyphosis, loss of bone mineral density. Consider a DEXA scan.
  106. Case 106. A 70 year old male of Asian descent presents with distal pain in his right leg. He also comments that he is vegetarian.. Investigations: X ray shows a small fracture. Blood results show low calcium, high PTH, low vitamin D, ALP raised. What is likely to have caused his fracture?
    Osteomalacia. -
  107. Case 107. A 54 year old man presents with a headache and shooting pains in his leg.. Investigations: ALP is elevated, other blood results are normal, Urinary hydroxyproline is elevated What is the likely cause of these findings?
    Paget's disease -
  108. Case 108. A 85 year old man presents with lower back pain which has become uncontrollable. On closer questioning, he also complains of some mild nocturia. There is no smoking history.. Investigations: Hypercalcaemia, high phosphate, low pTH, high ALP. What should you consider?
    Bony metastasis - Most likely due to prostate cancer.
  109. Case 109. A 74 year old woman complains of back pain. She has a history of Graves' disease, she smokes and drinks moderately, and she rarely leaves her house, due to leg ulcers. On examination she has a dowager's hump.. Investigations: Blood results are normal. DEXA scan is pending. What is the most likely cause for her pain?
    Osteoporosis. -
  110. Case 110. A patient is having a TRH test as part of a thorough workup for arrhythmias.. Investigations: TSH and prolactin respond briskly. What does this tell you?
    Normal anterior pituitary reserve. -
  111. Case 111. A registrar has started the insulin stress test on a 46 year old male patient, and left you to take the readings.. Investigations: What two readings would you take and what do you expect them to be?
    Cortisol (proxy for ACTH), growth hormone - both should peak sharply
  112. Case 112. You have been asked to take the blood results for a GNRH test started earlier today on a 14 year old boy.. Investigations: What two hormones are you measuring?
    FSH and LH -
  113. Case 113. A 34 year old female patient presents complaining of headaches and slowing of his speech.. Investigations: Oral glucose tolerance test comes back with GH not suppressed. What might be the cause of his symptoms and what would you be concerned about?
    Acromegaly - Heart and kidney failure
  114. Case 114. A 57 year old male presents with bone pain, hyponatraemia and hypernatraemia.. Investigations: Short synacthen test is equivocal What are you concerned about and what would be your next investigation?
    Addison's disease - Long synacthen tset
  115. Case 115. A 62 year old male presents with considerable weight gain over the last month and depression. Examination shows darkened palmar creases.. Investigations: Low dose dexamethasone suppression test shows no suppression of cortisol, High dose dexamethasone suppression test also shows no suppression of cortisol. What is the most likely diagnosis?
    Ectopic ACTH production (e.g. small cell lung tumour) -
  116. Case 116. A 35 year old male presents with recent onset diabetes, high blood pressure and poor concentration.. Investigations: Low dose dexamethasone suppression test shows no suppresssion of its target hormone, high dose dexamethasone is effective in suppressing it. What is the target hormone and what is the most likely cause of these results?
    Cushing's disease probably due to a pituitary adenoma - cortisol
  117. Case 117. A 28 year old women presents to you with infertility after trying for 3 years. He has amenorrhoea and occasionally she leaks milk.. Investigations: Prolactin levels are high. What would you consider?
    Prolactinoma - Differential includes stress, drugs, seizures (acutely, primary hypothyroidism, other pituitary disease
  118. Case 118. A 43 year old man is admitted with seizures.. Investigations: Prolactin levels are high. What is your diagnosis?
    Incidental result - Prolactin levels are often high directly after seizures.
  119. Case 119. A 49 year old woman presents with dehydration. They admit to constant thirst and comment that they have been passing water more frequently than usual.. Investigations: ADH levels are high. CRP is normal, ESR is normal, mild hypernatraemia, hyperosmolar blood. What would you consider?
    Diabetes insipidus - Due to an anterior pituitary adenoma which is stopping ADH secretion.
  120. Case 120. A 89 year old woman presents drowsy and agitated.. Investigations: Hypoglycaemia, low cortisol, hyponatraemia. Aldosterone level is normal, CT imaging of the adrenal glands shows no obvious abnormality. CRP, ESR is normal. What would you consider?
    Anterior hypopituitarism - Causing reduced ACTH release.
  121. Case 121. A 10 year old male presents with short stature. His parents are normal height, and he has a normal BMI. He has been severely asthmatic since age 6.. Investigations: Normal blood values, calcium and phosphate levels are normal. What is the most likely cause?
    Respiratory disease + steroid usage. -
  122. Case 122. A 14 year old girl presents with short stature.. Investigations: She is given a little oestragen and then her GH levels are measured after exercise. Her GH levels are reduced. What is the most likely diagnosis?
    GH deficiency due to pituitary failure. -
  123. Case 123. An 18 year old girl presents with palpitations and weight loss. You notice she is unusually tall for her age.. Investigations: ECG shows a heartrate of 110bpm at rest, electrolytes are normal. GH levels after excersize are normal. What should you consider?
    hyperthyroidism. - Also: Klinefelter's syndrome, congenital adrenal hyperplasia
  124. Case 124. A 57 year old female presents with a 6 month history of irritability, hot sweats and palpitations.. Investigations: She has low TSH, high T4 . She tests positive for TRAbs What is the diagnosis?
    Graves disease -
  125. Case 125. A 63 year old woman of Japanese descent presents with cold intolerance. She also comments that she has been putting on weight slowly over the past 6 months.. Investigations: She has high TSH, low T4. She tests positive for anti-TPO What is the diagnosis?
    Hashimoto's thyroiditis -
  126. Case 126. A 72 year old woman has been taking Lithium for her bipolar depression for the past 20 years. She has noticed of recent that she is feeling more irritable and constipated than usual.. Investigations: She has high TSH, low T4. On examination you find a small goitre. What is the diagnosis?
    Hypothyroidism - secondary to lithium. Probably irreversible.
  127. Case 127. A 61 year old man has been taking amiodarone for his arrhythmia for the past 5 months.. Investigations: On routine screening for amiodarone, his TSH is high Should you be concerned?
    Yes. Hypothyroidism is a common side effect of amiodarone. - Hyperthyroidism can also occur.
  128. Case 128. A 49 year old man has been taking thyroxine replacement tablets for the past 9 months. Of recent he has started to notice dry, thin hair, coarser skin and lethargy.. Investigations: What should you check for?
    Hypothyroidism -
  129. Case 129. A 68 year old male is admitted with a pulmonary embolism. He usually takes thyroxine replacement tablets.. Investigations: His T4 levels are low, his T3 levels are also low. What is the most likely explanation of his blood results?
    low T3 syndrome' - T4 and T3 and TSH are often low during acute illness, this is misguiding.
  130. Case 130. A pregnant 24 year old woman presents with palpitations and heat intolerance.. Investigations: Her total T4 levels are high, her free T4 levels are in normal range, her TSH levels are in normal range. What is the most likely explanation of her blood results?
    Pregnancy induces TBG synthesis, which means total T4 is high, but free T3 is normal. Euthyroid. -
  131. Case 131. A 61 year old woman presents with a 1 month history of heat intolerance and diarrhoea. She has a large, diffuse goitre.. Investigations: T4 is high, TSH is low, negative for TRAbs or anti-TPO. A radioiodine swallow shows a hot nodule What is the most likely cause for her symptoms?
    Thyrotoxic adenoma -
  132. Case 132. A 36 year old man presents with a month history of anxiety and a mild tremor. He had a mild cold just before the start of these symptoms.. Investigations: T4 is high, TSH is low, negative for TRABbs or anti-TPO. What is the most likely cause for his symptoms?
    De Quervain's thyroiditis -
  133. Case 133. A 46 year old woman feels well 2 weeks after starting her contraceptive pill, but her blood tests are abnormal.. Investigations: Her total T4 is high and her TSH is high. What is the most likely cause for these blood results?
    Oestragen increases TBG levels, causing temporary decreased free T4 (but increased total T4) and stimulating TSH until equilibrium is reached again. -
  134. Case 134. A 86 year old male presents with new onset atrial fibrillation and weight loss.. Investigations: AFP, CEA are normal, FBC is normal, T4 is high, TSH is low. What is the likely cause of these findings?
    Thyrotoxicosis. - This is 'apathetic hyperthyroidism'
  135. Case 135. A newborn female child has ambiguous genitaliae.. Investigations: On testing they are found to have a 21-hydroxylase deficiency What condition are they likely to have?
    Congenital adrenal hyperplasia. -
  136. Case 136. A 1 year old boy presents with dehydration. On examination they have some hyperpigmentation of skin creases.. Investigations: Bloods show hyponatraemia and hypovolaemia. What condition should you be concerned about?
    Congenital adrenal hyperplasia. -
  137. Case 137. A 27 year old man presents with lethargy, anorexia and weight loss. You note they have hyperpigmentation of their skin creases.. Investigations: Bloods show hyperkalaemia and hyponatraemia. Urea and creatinine are increased. What is the likely diagnosis?
    Chronic adrenocortical insufficiency. - Chronic causes include metastasis, tuberculosis, CMV (in AIDS patients)
  138. Case 138. A 49 year old woman presents with postural hypotension, vomiting, nausea and hypotension. You note that she had temporal arteritis 6 months ago, which is being managed in the community.. Investigations: Bloods show hyperkalaemia and hyponatraemia. Urea and creatinine are increased. What is the likely diagnosis and what test would you perform?
    Acute adrenocortical insufficiency, possibly due to rapid withdrawal of steroid treatment. - Random cortisol (of limited use), short synacthen test.
  139. Case 139. A 6 month old male has been treated for meningitis caused by neisseria meningitis. They have had septic shock, and multiple fits. 2 hours later they are handling poorly, and producing 1 wet nappy / hour.. Investigations: Bloods show hyperkalaemia and hyponatraemia. Which syndrome are you concerned about?
    Freidrich-Waterhouse syndrome - Causing adrenal insufficiency
  140. Case 140. A 81 year old female presents with a 2 month history of fatigue. She also mentions her dry, flaky skin, particularly on her elbows.. Investigations: Bloods show hyperkalaemia, urea and creatinine are normal. What should you consider?
    Addison's disease -
  141. Case 141. A 38 year old male presents with recent weight gain and hypertension.. Investigations: The dexamethasone suppression test shows absence of suppression. Early free cortisol shows high cortisol with no evidence of circadian rhythm. Further tests show that insulin-induced hypoglycaemia does not cause a rise in cortisol. What is your differential diagnosis?
    Pituitary adenoma, ectopic ACTH, adrenal adenoma/carcinoma. -
  142. Case 142. A 38 year old female presents with recent weight gain and hypertension.. Investigations: The dexamethasone suppression test shows suppression. Urinary free cortisol is low and shows diurnal variation. What is the likely cause for this person's symptoms?
    Normal variation. -
  143. Case 143. A 51 year old male presents with acne and poor wound healing.. Investigations: The insulin-induced hypoglycaemia test causes a spike in cortisol. What is the likely cause for this person's symptoms?
    Normal variation. -
  144. Case 144. A 43 year old female presents with polydipsia, polyuria, muscle weakness and cramps. On examination he has hypertension.. Investigations: Serum potassium is low, urine potassium excretion is high. Aldosterone is high, renin is low. What is the likely cause of this person's symptoms?
    Primary hyperaldosteronism (Conn's syndrome) -
  145. Case 145. A 70 year old female presents with thirst and dehydration. She has hypertension and a history of renal failure.. Investigations: Serum potassium is low. Renin levels are high and aldosterone levels are high. What is the likely cause of this person's symptoms?
    Hyperaldosteronism - secondary to renal failure.
  146. Case 146. A 63 year old male presents with truncal obesity, and is noticed in the community to have high blood pressure. Additionally, this patient has plethora and acne.. Investigations: A random cortisol is raised and with the dexamethasone test, cortisol fails to suppress. Symptoms go away 4 weeks after this. What was the likely cause of this person's symptoms?
    Pseudo-Cushing's syndrome - Caused by excess alcohol intake
  147. Case 147. What is the effect of PTH on the bone?. Investigations:
    Increases bone resorption -
  148. Case 148. What is the effect of PTH on the renal tubules?. Investigations:
    Increases calcium reabsorption -
  149. Case 149. What is the effect of 1,25 DHCC on the intestines?. Investigations:
    Increases calcium absorption -
  150. Case 150. What is the commonest cause of hyperphosphataemia?. Investigations:
    Renal failure. -
  151. Case 151. What does an insulin stress test, test for?. Investigations:
    Hypopituitariesm. -
  152. Case 152. What does a TRH test check for?. Investigations:
    Anterior pituitary reserve -
  153. Case 153. A 15 year old boy presents with short stature. On examination, he has no beard development, his voice has not broken and no penile enlargement as part of puberty.. Investigations: Genetic testing shows XXY mosaicism. What is the likely cause of this person's symptoms?
    Kleinfelter's syndrome -
  154. Case 154. A 17 year old female presents with absence of menarche. Her breast development is minimal and she is short in her stature.. Investigations: Ultrasound of her ovaries show a 'string of pearls' around the outside of both ovaries. What is the likely cause of this person's symptoms?
    Polycystic Ovaries - can lead to hypogonadotrophic hypogonadism
  155. Case 155. A 16 year old boy presents with delayed puberty. He has short stature, no testicular or penile enlargement and additionally he has no sense of smell.. Investigations: Genetic testing shows no gross abnormalities. LH and FSH levels are undetectable. What is the likely cause of this person's symptoms?
    Kallmann syndrome -
  156. Case 156. A 26 year old woman presents with hirsutism. She is obese, and has gained weight quickly over the last 2 months.. Investigations: Her random cortisol is within normal range. A dexamethasone suppression test shows impaired suppression. What is the likely cause of this person's symptoms?
    Cushing's syndrome -
  157. Case 157. A 27 year old woman presents with infertility. On examination she has hirsutism.. Investigations: Her testosterone is within normal range. What is the most likely cause of these symptoms and what would be your next investigation?
    Either idiopathic or PCOS - ultrasound of ovaries.
  158. Case 158. A 28 year old woman presents with infertility and hirsuitism. She is overweight.. Investigations: Serum testosterone is high, serum 17-hydroxyproline Is normal, glucose tolerance test is normal. What should you consider, and what would be your next investigation?
    ovarian or adrenal tumour. - Imaging of these two sites.
  159. Case 159. A 32 year old woman presents with hirsutism and a deepened voice. She has never tried to get pregnant.. Investigations: What is the most likely cause of her symptoms?
    High testosterone - Ovarian or adrenal tumour.
  160. Case 160. A 35 year old woman presents with infertility and breast atrophy.. Investigations: Testosterone is high, androstenedione is high but DHA is at normal levels. What is the most likely cause of her symptoms?
    Ovarian tumour - if an adrenal tumour, expect DHA sulphate to be high also.
  161. Case 161. A 34 year old woman presents with infertility. She has normal periods.. Investigations: Progesterone is low, FSH and LH are high What is the most likely cause of her symptoms?
    Ovarian failure -
  162. Case 162. A 34 year old woman presents with infertility. She has normal periods.. Investigations: Progesterone is low, LH is high, FSH is low What is the most likely cause of her symptoms?
    Polycystic ovarian syndrome -
  163. Case 163. A 34 year old woman presents with infertility. She has normal periods.. Investigations: Progesterone is low, prolactine is high. What is the most likely cause of her symptoms?
    Hyperprolactinaemia - due to prolactinoma, drugs, stress, etc.
  164. Case 164. A 34 year old woman presents with infertility. She has normal periods.. Investigations: When in her period should progestrone be measured?
    In the middle of a luteal phase (day 21) -
  165. Case 165. A 31 year old man presents with infertility.. Investigations: Testosterone is low, FSH and LH are increased. What is the most likely cause of this person's symptoms?
    Primary testicular failure. -
  166. Case 166. A 31 year old man presents with infertility.. Investigations: Testosterone is low, FSH and LH are normal. What is the most likely cause of this person's symptoms?
    Hypogonadotrophic hypogonadism -
  167. Case 167. A 20 year old male presents with bleeding gums and fatigue. He has also noticed dry eyes. Thorough examination reveals some skin spots.. Investigations: ANA are negative, other blood tests are normal. What should you consider?
    Scurvy - Vit C deficiency -
  168. Case 168. A 57 year old woman from south east asia presents with bone pain, palpitations and emotional disturbance.. Investigations: What vitamin deficiency may she have?
    B1 (thiamine) -
  169. Case 169. A 61 year old woman is abstaining from alcohol after a 3 week binge. She presents with a 1 day history of poor memory and mania.. Investigations: What vitamin deficiency may she have?
    B12 (cobalamin -
  170. Case 170. A patient on methotrexate complains of weakness and fatigue. Investigations: Which vitamin deficiency would you be concerned about?
    Folate -
  171. Case 171. You find out that your 61 year old male patient on methotrexate has recently been put on trimethoprim for a UTI. Investigations: Which vitamin deficiency would you be concerned about?
    Folate -
  172. Case 172. A 28 year old female from Sudan has recently moved to the UK. She is complaining of night blindness.. Investigations: Which vitamin deficiency would you be concerned about?
    Vitamin A (retinol) -
  173. Case 173. A 7 year old male with a history of cystic fibrosis complains of epistaxes and prolonged bleeding after venesection.. Investigations: PT increased, APPT normal, bleeding time normal, platelet count normal Which vitamin deficiency would you be concerned about?
    vitamin K -
  174. Case 174. A 46 year old male on TPN has developed a fever, increased respiratory rate and a tachycardia.. Investigations: What would be your next investigation?
    Sepsis - blood cultures
  175. Case 175. A 39 year old female is on TPN during her coma.. Investigations: What disorders of potassium, magnesium, phosphate and calcium are most common?
    Hypokalaemia, hypomagnesaemia, hypophosphataemia, hypercalcaemia. -
  176. Case 176. A 34 year old man is admitted with malaise and a swollen, reddened cut.. Investigations: Another HCW comments that they are worried about sepsis. What are the criteria for sepsis (2 required)
    deranged temperature, heart rate, respiratory rate, CO2, WCC - in the presence of presumed infection
  177. Case 177. A 62 year old female presents with a pharyngitis. She is otherwise well.. Investigations: Raised CRP, ESR normal, raised caeruloplasmin What is the cause of her raised caeruloplasmin?
    Acute phase response - also incorporating complement, haptoglobin and coagulation proteins
  178. Case 178. A 49 year old male presents with pain on urination and increased frequency of urination.. Investigations: Raised CRP, ESR slightly raised, raised fibrinogen and factor VIII. Urine dip shows blood, protein and nitrates. What is the cause of his raised clotting factors?
    Acute phase response -
  179. Case 179. A 50 year old woman presents with chronic heartburn after meals.. Investigations: Urea breath test is positive What is the most likely cause of this person's symptoms?
    H. pylori infection - Causing peptic ulcer disease.
  180. Case 180. A 34 year old man of chinese descent presents with a 6 month history of diarrhoea and gas.. Investigations: Lactose tolerence test is positive What is the most likely cause of her symptoms?
    Lactase deficiency -
  181. Case 181. A 10 year old boy with cystic fibrosis presents with fatty stools.. Investigations: What test could you use to identify panceratic function?
    Faecalchymotrypsin or elastase -
  182. Case 182. A 70 year old female presents with fatigue and tingling which is worse in her left foot.. Investigations: Schilling test is positive What is the most likely cause of this person's symptoms?
    b12 deficiency -
  183. Case 183. A chronic alcoholic presents with steathorrea. Investigations: The Lundh test is abnormal What is the most likely cause of this?
    Pancreatic insufficiency. -
  184. Case 184. A 76 year old female presents with attacks of profuse watery diarrhoea, during which time she is distinctly flushed. She has no signs of infection, but has noticed muscle weakness.. Investigations: Hypokalaemia, acidosis, high osmolality blood. MRI shows a small lesion in the pancreas. What is the most likely cause of this person's symptoms?
    VIPoma -
  185. Case 185. A 32 year old man presents with fatigue and shortness of breath. He currently has a bad cold.. Investigations: Blood film shows microcytic anaemia. Serum ferritin is normal, red cell poryphorin is increased. What is the most likely cause of this person's symptoms?
    Iron deficiency anaemia - Serum ferritin is raised during an acute phase response.
  186. Case 186. A 31 year old woman presents with fatigue and diabetes. You also notice her skin has a faint greyish hue.. Investigations: AST and ALT are slightly raised. Transferrin saturation is high, serum ferritin is raised, liver biopsy confirms your findings. What is the most likely cause of this person's symptoms and what is your next investigation?
    Haemachromatosis - Genetic testing for C282Y in the HFE gene
  187. Case 187. A 29 year old man presents with shortness of breath on exertion and swollen feet. On examination you hear crackles in the base of the lung.. Investigations: A chest x ray confirms pulmonary oedema. Serum iron is increased. What should you consider and what is your next test?
    Haemachromatosis - Transferrin saturation, serum ferritin.
  188. Case 188. A 6 year old girl is admitted with nausea, vomiting, hypotension and haematemesis.. Investigations: Serum iron is increased and transferrin is very saturated. What is the most likely diagnosis and how would you manage it?
    Iron poisoning - Desferrioxamine to chelate iron.
  189. Case 189. A 41 year old man complains of breathlessness 2 months after his intestinal bypass surgery.. Investigations: Blood film shows microcytic hypochromic anaemia. Treatment with iron does not improve this. What should you consider?
    Copper deficiency - oral copper
  190. Case 190. A 3 month old male child presents with seizures, growth failure and mental retardation. He is observed to have steely hair.. Investigations: What is the most likely diagnosis and how would you manage it?
    Menkes syndrome -
  191. Case 191. A 14 year old boy presents with gastric perforation. A close history reveals that he has taken a copper sulphate solution.. Investigations: High copper levels. What complication are you concerned about and what is your management?
    Renal tubular damage - chelation with penicillamine.
  192. Case 192. A 17 year old boy with presents with oedema.. Investigations: ALT and AST are abnormal. What should you consider?
    Wilson's disease -
  193. Case 193. A 18 year old girl is being screened for a condition her brother has.. Investigations: Urinary free copper excretion is high. Low serum copper. Low caeruloplasmin concentrations. Liver biopsy shows high copper concentration. What is the diagnosis and what is management? Which other organ may be considerably affected?
    Wilson's disease - Chelation with penicillamine. Screen for neurological defects.
  194. Case 194. A 54 year old female is admitted to hospital with acute hepatitis A.. Investigations: LFTs are abnormal, albumin is low. Copper concentration is high and zinc concentration is low. What is the cause for copper and zinc abnormalities?
    Acute phase response -
  195. Case 195. How do you expect copper and zinc levels to change during an acute phase response?. Investigations:
    Copper levels increase, zinc levels decrease. -
  196. Case 196. A 46 year old male who has recently immigrated from an unknown country presents with a dark skin rash and wound breakdown. He also has delayed healing. He mentions that he has been eating very little for the past few months.. Investigations: What possible mineral deficiency may he have?
    Zinc deficiency -
  197. Case 197. A 39 year old woman works in a shipyard. She has presented with flu-like symptoms: chills, a fever and muscle ache, with a cough. She has a history of kidney stones.. Investigations: What form of poisoning may she have, and what mineral deficiency may she have as a result?
    Cadmium poisoning - zinc deficiency
  198. Case 198. A patient on phenytoin asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Non-linear kinetics -
  199. Case 199. A patient on carbamazepine asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Non-linear kinetics -
  200. Case 200. A patient on digoxin asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Low therapeutic index and sensitive to renal dysfunction -
  201. Case 201. A patient on amiodarone asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Wide variability in half life - especially in neonates
  202. Case 202. A patient on aminoglycosides asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    It is nephrotoxic and ototoxic -
  203. Case 203. A patient on isoniazid asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Slow and fast metabolisms exist -
  204. Case 204. A patient on ciclosporin A asks why they need to be monitored whilst on the drug. Investigations: What is the reason and when do you measure?
    Nephrotoxic - measure at 2 hours
  205. Case 205. A patient on tacrolimus asks why they need to be monitored whilst on the drug. Investigations: What is the reason and when do you measure?
    Nephrotoxic - measure trough levels
  206. Case 206. A patient on lithium asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Very low therapeutic index -
  207. Case 207. A patient on methotrexate asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    If slowly metabolised then folate therapy is required -
  208. Case 208. A patient on theophylline asks why they need to be monitored whilst on the drug. Investigations: What is the reason?
    Low therapeutic index. -
  209. Case 209. A patient is admitted with hallucinations, with a dry mouth, dry hot skin and dilated pupils. He mentions a history of taking herbal medicines.. Investigations: What would you use to manage this kind of poisoning?
    Physostigmine - Atropine poisoning
  210. Case 210. A patient is admitted with suspected benzodiazepines poisoning. Investigations: What would you use to manage this kind of poisoning?
    flumezanil -
  211. Case 211. A patient is admitted with suspected carbon monoxide poisoning. Investigations: What would you use to manage this kind of poisoning?
    oxygen -
  212. Case 212. A patient is admitted with suspected cyanide poisoning. Investigations: What would you use to manage this kind of poisoning?
    dicobalt edetate -
  213. Case 213. A patient is admitted with suspected poisoning after drinking an unknown substance.. Investigations: severe metabolic acidosis, severe hypocalcaemia. What is the most likely cause and what would you use to manage it?
    ethylene glycol poisoning - ethanol
  214. Case 214. A patient is admitted with suspected heavy metal poisoning. Investigations: What would you use to manage this kind of poisoning?
    appropriate chelating agents -
  215. Case 215. A patient is admitted with suspected nitrate poisoning. Investigations: What would you use to manage this kind of poisoning?
    methylene blue -
  216. Case 216. A patient is admitted with dilated pupils. Investigations: Poisoning is suspected. What would you use to manage this kind of poisoning?
    naloxone - opiate poisoning
  217. Case 217. A patient is admitted with suspected organophosphate poisoning. Investigations: What would you use to manage this kind of poisoning?
    atropine -
  218. Case 218. A patient is admitted with suspected paracetamol poisoning. Investigations: What would you use to manage this kind of poisoning?
    n-acetylcysteine -
  219. Case 219. A patient is admitted with suspected salicylate poisoning. Investigations: What would you use to manage this kind of poisoning?
    sodium bicarbonate -
  220. Case 220. A patient is admitted with suspected warfarin poisoning. Investigations: What would you use to manage this kind of poisoning?
    vitamin k -
  221. Case 221. A 48 year old male presents with severe arrhythmias, hypokalaemia. Investigations: Glucose levels are deranged What is the most likely cause?
    Theophylline poisoning -
  222. Case 222. A 51 year old male presents with a severe bradycardia after taking a bottle of an unknown substance.. Investigations: Potassium levels are severely deranged. What is the most likely cause and what would your management be?
    Cardiac glycoside poisoning. - neutralising antibodies
  223. Case 223. A 71 year old female with known renal failure develops bone disease and neurocognitive deficit over a relatively short amount of time.. Investigations: Poisoning by which metal may cause these symptoms and what is management?
    Aluminium - chelate using desferrioxamine
  224. Case 224. A 49 year old farmer presents with persistent diarrhoea, dermatitis and polyneuropathy.. Investigations: Blood shows raised creatinine and urea, hair analysis and urine analysis confirms the result. Poisoning by which metal may cause these symptoms and what is management?
    Arsenic - dimercaprol-type chelating agent, and when symptoms have subsided, penicillamine
  225. Case 225. A 61 year old woman works in a large factory and presents with chills and fevers and muscle ache. She smokes a pack / day. She has a history of renal stones.. Investigations: raised urine b2-microglobulin, raised ALT and AST, Poisoning by which metal may cause these symptoms and what is management?
    Cadmium poisoning - removal from exposure. Chelation may result in further renal damage
  226. Case 226. A 40 year old man presents complaining about a thin blue line which has developed on his gums. He has also noticed constipation of recent.. Investigations: Raised protoporphyrin levels in erythrocytes. Poisoning by which metal may cause these symptoms and what is management?
    Chronic lead poisoning. - prolonged use of a chelating agent
  227. Case 227. A 36 year old female chemistry teacher presents with nausea and vomiting, muscular tremors and confusion. She has developed respiratory distress and complains constantly of a metallic taste in the mouth.. Investigations: Blood and urinary concentrations of mercury are raised. Her renal function is unaffected. What is management?
    dimercaprol - chronic exposure is best treated with n-acetyl-penicillamine unless renal function is reduced.
  228. Case 228. A 46 year old man presents with a history of recurrent falls. He has recently developed diabetes.. Investigations: He has elevated gamma-GT, elevated serum triglyceride and hyperuricaemia. What should you consider?
    chronic alcohol abuse. -
  229. Case 229. A 61 year old man presents with a new onset of cardiomyopathy. He has also recently been diagnosed with oesophageal varices.. Investigations: Blood results show hypertriglyceridaemia and hyperuricaemia. What should you consider?
    chronic alcohol abuse. -
  230. Case 230. A female patient in her 30s presents from a road traffic accident in a coma.. Investigations: She opens her eyes in response to pain, she makes incomprehensible sounds and she localises to pain. What is her Glasgow Coma Score?
    e=2, v=2, m=5 -
  231. Case 231. A male patient in his 50s presents with an infection in a drowsy state.. Investigations: He opens his eyes to speech, has confused conversation and can follow motor commands. What is his Glasgow Coma Score?
    e=3, v=4, m=6 -
  232. Case 232. A female patient in her 60s presents in a confused state after a fall.. Investigations: She does not open her eyes even in response to pain, she uses inappropriate words and she localises to pain. What is her Glasgow Coma Score?
    e=1, v=3, m=5 -
  233. Case 233. A male patient presents from a road traffic accident in a coma.. Investigations: He does not open his eyes even in response to pain, he does not make a verbal response and he has abnormal flexion in response to pain. What is his Glasgow Coma Score?
    e=1, v=1, m=3 -
  234. Case 234. A 14 year old female presents with a fever and reduced consciousness level.. Investigations: CSF shows high protein, low glucose and cloudy fluid What is the most likely cause?
    Bacterial meningitis - neisseria meningitidis, h. influenza
  235. Case 235. A 17 year old male presents with a fever and meningism.. Investigations: Glucose is slightly depressed and protein is normal. What is the most likely cause?
    Viral meningitis. -
  236. Case 236. A 40 year old man presents with ascites.. Investigations: On tapping the ascites, it was found that he has a large serum-ascites albumin gradient. What are the implications of this?
    Portal hypertension -
  237. Case 237. A 45 year old woman from Iran presents with ascites. Additionally she complains of a fever.. Investigations: The ascitic tap shows a lymphocytic exudate. What are the 3 most likely causes of her ascites?
    Tuberculosis, lymphoma, fungal infection of the peritoneum -
  238. Case 238. A 79 year old female with known cirrhosis presents with ascites.. Investigations: Ascitic tap shows an exudate, high neutrophil count and low protein concentration. blood serum shows raised CRP and bilirubin. What is the most likely cause of her ascites?
    Spontaneous bacterial peritonitis. -
  239. Case 239. A 79 year old female with known cirrhosis presents with ascites.. Investigations: Ascitic fluid has high LDH which is acidotic and an increased protein concentration. What is the most likely cause of her ascites?
    Seoncdary peritonitis -
  240. Case 240. An 80 year old male with known hep C infection presents with ascites.. Investigations: Ascitic fluid has malignant cytology and is positive for AFP. Serum AFP is negative. What is the most likely cause of his ascites?
    Liver hepatocellular carcinoma -
  241. Case 241. A 71 year old male presents with shortness of breath. On examination the base of his left lung is dull to percussion.. Investigations: The pleural fluid is high in protein and lactate dehydrogenase. Serum CRP is high, WCC is high, neutrophils are high. What is the most likely cause of his pleural effusion?
    Bacterial pneumonia -
  242. Case 242. A 71 year old male presents with shortness of breath. He has a longstanding history of rheumatoid arthiritis. On examination the base of his left lung is dull to percussion.. Investigations: The pleural fluid is high in protein and lactate dehydrogenase and very low in glucose. Serum ESR is high, neutrophils are normal. What is the most likely cause of his pleural effusion?
    Autoimmune -
  243. Case 243. A 71 year old male presents with shortness of breath. He has a longstanding history of rheumatoid arthiritis. On examination the base of his left lung is dull to percussion.. Investigations: The pleural fluid is high in protein and lactate dehydrogenase. It is a bloody tap, with positive cytology. Serum tumour markers are negative. What is the most likely cause of his pleural effusion?
    Lung malignancy -
  244. Case 244. A 71 year old male presents with shortness of breath. He has a longstanding history of SLE. On examination the base of his left lung is dull to percussion.. Investigations: Exudate is frankly purulent and a chest tube is placed. There is a high LDH level and a pH of less than 7.2 and low glucose. What is the most likely cause of his pleural effusion?
    Bacterial empyema. -
  245. Case 245. A 61 year old male presents with a sudden onset of severe headache. A CT is not readily available.. Investigations: LP shows slightly increased pressure. The tap is blood-stained across 3 aliquots, xanthochromic, and the red cell count is raised. There is a slightly raised WCC, normal glucose, increased protein and sterile microbiology. There are no oligoclonal bands What is the most likely cause of this person's symptoms?
    Sub-arachnoid haemorrhage -
  246. Case 246. A 40 year old female presents with a severe headache. A CT is not readily available.. Investigations: LP is performed. Opening pressure = normal, colour = cloudy. Red cell count = normal, white cell count is raised. Glucose = decreased, protein = increased. Microbiology pending. What is the most likely cause of this person's symptoms?
    Bacterial meningitis -
  247. Case 247. A 43 year old male presents with a severe headache. A CT is not readily available.. Investigations: LP is performed. Pressure = normal, colour = clear. Rcc = normal, wcc = raised, glucose = normal, protein = increased, microbiology pending. Oligoclonal bands positive. What is the most likely cause of this person's symptoms and what else would you test for?
    Viral meningitis. -
  248. Case 248. A 43 year old male presents with a severe headache. A CT is not readily available.. Investigations: LP is performed/ Pressure = normal, colour = slightly cloudy, red cell count = normal, wcc = high, glucose = decreased, protein = increased, oligoclonal bands = positive, microbiology = auramine stain positive What is the most likely cause of this person's symptoms?
    Tuberculous meningitis - HIV antibodies in serum.
  249. Case 249. A 4 year old boy presents with unexplained seizures. He has no fevers.. Investigations: Bloods are normal. CSF is performed several days later. It is normal except raised LDH. What should you consider?
    Mitochondrial inborn error of metabolism -
  250. Case 250. A 37 year old male presents with heat intolerance on getting into his bath, and leg weakness.. Investigations: CSF shows normal pressure, colour, red cell count, and slightly raised lymphocytes. Normal glucose and slightly increased protein, positive for oligoclonal bands. What is the most likely cause for this patient's symptoms?
    Multiple sclerosis -
  251. Case 251. A 57 year old male presents with leg weakness and incontinence.. Investigations: CSF shows very high protein, low WCC, otherwise normal CSF. What should you consider?
    Spinal tumour - Consider spinal cord compression
  252. Case 252. Your consultant has sent a sample to pathology collected from the ear discharge of your 26 year old female who has been in a road traffic accident.. Investigations: It is negative for tau protein What does this tell you?
    The discharge is not CSF. -
  253. Case 253. Your consultant has sent off a drain sample from a 39 year old patient with recent cardiothoracic surgery which looks milky.. Investigations: It is higher in triglycerides than fasting serum What does this tell you?
    This liquid is probably chyle - suspect a leak from the thoracic duct.
  254. Case 254. On the obstetric ward a 29 year old woman gravi 1, para 0 presents with a clear fluid discharge. You urgently need to know whether it is amniotic fluid.. Investigations: What test could you use to identify amniotic fluid?
    Fetal fibronectin - in practice this is rarely performed, as there are other ways to diagnose labour.
  255. Case 255. A 25 year old female has been discharged from clinic, where she has been told that she has a mutation of apolipoprotein B.. Investigations: What condition does she have?
    Familial Defective Apo B -
  256. Case 256. A 35 year old female presents with hypertension. You notice she has xanthomata.. Investigations: LDL level and cholesterol level is high and respond somewhat to statins. Genetic analysis detects a mutation of LDL receptor What condition does she have and what is the most likely complication?
    Familial hypercholesterolaemia - Coronary heart diseae
  257. Case 257. A 35 year old female presents with hypertension and obesity.. Investigations: LDL level and cholesterol level is high and does not respond to statins. Genetic analysis detects no mutation of LDL receptor What is the most likely diagnosis?
    Hypercholesterolaemia due to diet and lifestyle. -
  258. Case 258. A 32 year old male presents with recurrent abdnomal pain and pancreatitis. He denies excessive alcohol intake and has been teetotal for the past several months, but his symptoms have not subsided.. Investigations: Genetic investigations show mutations of lipoprotein lipase What is the most likely diagnosis?
    Hyperchylomicronaemia -
  259. Case 259. . Investigations: What is the most common lipid disorder linked with athergenesis and CHD?
    Elevated plasma LDL cholesterol level. -
  260. Case 260. . Investigations: What are the 4 most common secondary causes of hyperlipidaemia causing hypertriglyceridaemia?
    Diabetes mellitus, alcohol excess, chronic renal failure, drugs (e.g. thiazides) -
  261. Case 261. . Investigations: What are the 4 most common secondary causes of hyperlipidaemia causing hypercholesterolaemia?
    Hypothyroidism, nephrotic syndrome -
  262. Case 262. A 54 year old female with a history of hypertension presents complaining of blurred vision.. Investigations: Creatinine and urea are raised, hypertension is more pronounced than previously. What are you concerned about and what are the 2 main complications of this?
    Malignant hypertension - Papilloedema, progressive renal failure.
  263. Case 263. A 65 year old man is noticed to have hypertension on routine screening.. Investigations: Urine dip shows protein, GFR is reduced. What is the cause of his hypertension?
    Renal parenchymal disease -
  264. Case 264. A 65 year old man is noticed to have hypertension on routine screening which is refractory to ACE inhibitors or ARBs.. Investigations: Renin concentration is high What is the most likely cause of his hypertension?
    Renal artery stenosis. -
  265. Case 265. A 51 year old female presents with high blood pressure.. Investigations: Hypokalaemia, which does not respond to potassium supplementation. What is the most likely cause of her hypertension and what is the next test you would perform?
    Aldosterone - renin ratio -
  266. Case 266. A 38 year old female has hypertension in clinic, which is associated with palpitations and headaches, but has passed within half an hour.. Investigations: What is the most likely cause of his hypertension and what is the next test you would perform?
    Urine catecholamine, MIBG scan. -
  267. Case 267. A 31 year old female presents with hypertension. She has also noticed considerable truncal weight gain over the past six months. Investigations: A dexamethasone suppression test shows high cortisol. What is the most likely cause of her hypertension and what is the next test you would perform?
    High dose dexamethasone suppression test. -
  268. Case 268. A 71 year old female presents with hypertension in the community. She has noticed some sleep apnoea and she is considerably obese.. Investigations: No blood tests are available. What is the most likely cause of her hypertension and what is the next test you would perform?
    Obesity -
  269. Case 269. A 46 year old female is started on ACE inhibitors for her hypertension.. Investigations: This is followed by a rapid rise in creatinine. What is the most likely cause of her hypertension and what is the next test you would perform?
    Renal artery stenosis. - Magnetic resonance angiography
  270. Case 270. A 59 year old male is started on treatment for his hypertension. Soon afterwards he develops muscle weakness.. Investigations: Hyperkalaemia Which drugs might you be suspicious of?
    Spironolactone and other aldosterone antagonists. -
  271. Case 271. A 59 year old male is started on treatment for his hypertension. Soon afterwards he develops confusion.. Investigations: Hypernatraemia Which drugs might you be suspicious of?
    Loop diuretics (e.g. furosemide) or less commonly thiazide diuretics (e.g. bendroflumethiazide) -
  272. Case 272. A 58 year old male presents with fevers, night sweats and weight loss.. Investigations: Screening bloods show elevated serum urate, high LDH and increased serum creatinine. What might you consider?
    Haematological malignancy e.g. lymphoma, leukaemia. -
  273. Case 273. A 31 year old male presents with hypertension and a decreased interest in sex.. Investigations: Short dexamethasone suppression test shows no cortisol reduction, long dexamethasone suppression test shows no cortisol reduction What might you consider and what is your next investigation?
    Ectopic ACTH production (e.g. small cell lung tumour) - Chest x ray
  274. Case 274. A 38 year old female presents with recent muscle weakness.. Investigations: Hypokalaemia, metabolic alkalosis What might you consider and what is your next investigation?
    Cushing's syndrome - Dexamethasone suppression test.
  275. Case 275. A 47 year old female with known lung cancer presents with a hyponatraemia.. Investigations: Osmolality is low What is the most likely cause for this?
    SIADH -
  276. Case 276. 51 year old man is undergoing cisplatin treatment. He has noticed cramps and constipation.. Investigations: Which 2 electrolyte abnormalities might you expect?
    Hypomagnaesaemia, hypokalaemia. -
  277. Case 277. A 91 year old man is undergoing chemotherapy for his Chronic Leukocytic Leukaemia. He presents with weakness and confusion. Investigations: Hyperuricaemia, high creatinine What is the likely cause and what disturbances of calcium and potassium might you expect?
    Tumour lysis syndrome - Hyperkalaemia, hypocalcaemia
  278. Case 278. A 34 year old man presents with a testicular lump and shortness of breath.. Investigations: High HCG What is the likely cause and what is the prognosis with treatment?
    Choriocarcinoma ( a form of germ cell tumour) - good prognosis
  279. Case 279. A 79 year old man presents with recurrent UTIs.. Investigations: A PSA test is very high and a second PSA test shows a rising trend. What is the likely cause of this?
    Prostatic cancer -
  280. Case 280. A 59 year old man is found on screening to have faecal occult blood.. Investigations: CEA levels are high What are you concerned about?
    Colorectal adenocarcinoma. -
  281. Case 281. A 29 year old man presents with a positive pregnancy test (he mentions that it is a long story!). Investigations: AFP and HCG are abnormal. What is the most common cause of this?
    Testicular teratoma. -
  282. Case 282. . Investigations: 2 of which 5 items are required for a diagnosis of MEN-1?
    parathyroid adenoma, pancreatic endocrine tumour, pituitary adenoma, adrenal cortex adenoma, carcinoid tumour -
  283. Case 283. A 35 year old woman is found to have medullary carcinoma of the thyroid and hyperparathyroidism. Investigations: What condition are they likely to have, which gene is affected and what would you now check for?
    MEN2a (RET gene) - bilateral phaeochromocytoma
  284. Case 284. A 34 year old woman is found to have a medullary carcinoma of the thyroid and to be tall with long fingers. Investigations: What condition are they likely to have, which gene is affected and what would you now check for?
    MEN2b (RET gene) - phaeochromocytoma (parathyroid adenomas are rare), and mucosal ganglioneuromas.
  285. Case 285. A 31 year old woman is found to have medullary carcinoma of the thyroid, and mentions that her mother died at a young age, of an unknown cause.. Investigations: CT shows no parathyroid or adrenal abnormality What condition are you now concerned about?
    Familial medullary carcinoma of the thyroid -
  286. Case 286. Screening is being performed on the 38 year old sister of a person with an inherited condition.. Investigations: Calcium and pentagastrin provocation test shows a raise in calcitonin levels. What condition are you now concerned about?
    Medullary carcinoma of the thyroid -
  287. Case 287. A 3 year old boy is found to have a RET mutation for MEN 2b. Investigations: What management may you consider?
    Prophylactic surgical removal of the predisposed glands. -
  288. Case 288. A 71 year old female presents with flushing, diarrhoea and shortness of breath. On examination you notice a systolic murmur.. Investigations: High 5-hydroxyindoleacetic acid. CT shows a small lesion at the junction between the appendix and ileocaecal region. AST and ALT are slightly raised. What is the most likely cause?
    Intestinal carcinoid with hepatic metastasis - intestinal carcinoid primary will not cause symptoms, as serotonin is metabolised.
  289. Case 289. A 81 year old male with a history of renal disease presents to you with some pain in his foot. It seems to be on moving his joints more than bone pain, and his joints are otherwise well.. Investigations: Creatinine and urea are raised (similar to previous results for this patient), CRP and ESR are normal. What is the most likely cause?
    Gout due to high urea. -
  290. Case 290. A 2 year old male presents with mental retardation, self-mutilation. He has no other GI or renal symptoms.. Investigations: Plasma urate is high, creatinine and GFR are normal. What heriditary condition should you consider?
    Lesch-Nyhan syndrome - Primary hyperuricaemia
  291. Case 291. A 45 year old female presents with foot pain. She notes that she regularly drinks 'more than she should' and often has to take an aspirin in the morning.. Investigations: Plasma urea is high and the condition resolves with indometacin. What was the most likely cause of these symptoms?
    Gout due to high urea. -
  292. Case 292. A 71 year old man is receiving chemotherapy for his leukaemia. He complains of foot pain and muscle weakness.. Investigations: Plasma urea is high, creatinine is high, decreased GFR, hyperkalaemia, hypocalcaemia What is the most likely cause of these symptoms?
    Tumour lysis syndrome -
  293. Case 293. A 31 year old pregnant woman has blood tests at her 20th week.. Investigations: Serum high urate, high blood pressure, urine protein excretion, decreased creatinine clearance. What are you worried about?
    Pre-eclampsia -
  294. Case 294. A 6 year old boy presents with muscle weakness.. Investigations: CK levels are high. Electrolytes are normal, renal function is normal. What are you worried about?
    Duchenne muscular dystrophy. -
  295. Case 295. A 76 year old man presents with muscle weakness.. Investigations: Hypokalaemia, decreased CK What should you consider?
    Cushing's syndrome -
  296. Case 296. A 61 year old woman presents with palpitations and a tremor.. Investigations: Electrolytes are normal, CK is reduced. What should you consider?
    Thyrotoxicosis. -
  297. Case 297. A 60 year old female presents with lethargy and weight gain.. Investigations: Electrolytes are normal, CK is increased. What should you consider?
    Hypothyroidism -
  298. Case 298. A 45 year old male presents with haemorrhage just after a major road traffic accident.. Investigations: CK is increased. What is the cause of the increased CK?
    muscle damage. -
  299. Case 299. A 92 year old woman presents with constipation and hypothermia. They are on long term lithium for bipolar depression.. Investigations: What should you consider?
    Hypothyroidism -
  300. Case 300. A 29 year old woman has a positive pregnancy test.. Investigations: At the 20 week scan, there is no heartbeat. The b-HCG test is very positive. What should you consider?
    Hydatidiform mole -
  301. Case 301. A 25 year old has continuous spotting.. Investigations: A pregnancy test is positive, but the 20 week scan fails to detect a heartbeat What should you consider?
    Ectopic pregnancy -
  302. Case 302. A 33 year old woman is being followed through her pregnancy.. Investigations: High AFP levels are detected. What are you concerned about and what further investigations would you perform?
    Neutral tube defect. - Amniocentesis for AFP levels.
  303. Case 303. A pregnancy is followed closely due to difficulties in a previous pregnancy.. Investigations: It is noted that amniotic bilirubin levels are high. The mother is Rhesus positive. The baby is born healthy, but becomes jaundiced. What might you consider?
    Blood group incompatibilities - Rhesus incompatibility is not possible as the mother is Rhesus positive.
  304. Case 304. A 31 year old woman with a 21 week pregnancy is found to have mild hypertension.. Investigations: GFR is high, urea and creatinine is low, intermittent glycosuria is present. What are your concerns regarding the investigations?
    None - these are physiological changes. -
  305. Case 305. How is serum albumin affected during pregnancy?. Investigations:
    It should fall -
  306. Case 306. A 17 year old woman is 18 weeks pregnant and complains of puffy ankles.. Investigations: She has hypertension, increased serum urea, urate, creatinine, and decreased GFT What are you concerned about and how might you manage her hypertension?
    Pre-eclampsia - Magnesium sulphate
  307. Case 307. A 16 year old woman is 24 weeks pregnant and presents with jaundice.. Investigations: She has haemolysis, elevated liver enzymes. What are you concerned about and what else might you look for?
    HELLP - Low platelets.
  308. Case 308. A 16 year old woman is 30 weeks pregnant and presents with a severe itch.. Investigations: She has raised bilirubin. Should you be concerned?
    Yes - this is obstetric cholestasis, which increases risk of intrauterine death. -
  309. Case 309. A 4 day old female infant presents from Iran. He has a puffy face, protuberant tongue, umbilical hernea and muscle weakness.. Investigations: What are you concerned about?
    Cretinism. -
  310. Case 310. A newborn screening test comes back positive for congenital hypothyroidisn.. Investigations: What is your next investigation?
    TSH levels and mother's thyroid function (for autoantibodies which may have crossed the placenta) -
  311. Case 311. A 2 week old male baby from Lebanon presents with irritability, poor feeding and a fit. He has eczema and you note that he has fair hair and blue eyes, unlike his mother, who is fair haired with brown eyes.. Investigations: What are you concerned about? What foods in particular should this child avoid?
    Phenylketonuria. - Food containing aspartame.
  312. Case 312. A female baby is jaundiced during the first 24 hours after birth.. Investigations: What is the most likely cause?
    Haemolysis due to blood group incompatibility or infection. - unconjugated bilirubin
  313. Case 313. A male baby has jaundice that lasts more than 10 days after birth.. Investigations: What are the 4 most common causes?
    Galactosaemia, congenital hypothyroidism, cystic fibrosis, G6P deficiency - unconjugated bilirubin
  314. Case 314. A 3 day old male baby is jaundiced. Investigations: High conjugated bilirubin What are the 3 most common causes?
    Neonatal hepatitis, biliary atresia, inherited alpha-1-antitrypsin deficiency. -
  315. Case 315. A 12 day female baby presents with failure to thrive. You note that they have a cataract.. Investigations: Galactose-1-phosphate uridyl transferase is deficient What is the cause of these symptoms?
    Galactaemia. -
  316. Case 316. A 3 day old baby presents with ketoacidosis. You note an odd smell of maple syrup. Investigations: What is the cause of these symptoms?
    Maple syrup urine disease -
  317. Case 317. A 3 day old baby presents with a seizure. They have had a 1 day history of vomiting, and seem to 'lack energy'. You note a distinctive smell of sweaty feet.. Investigations: What might you test for?
    Isovalaric acidaemia -
  318. Case 318. A week old baby presents because her parents are concerned about a 'fishy' odour. Otherwise the baby seems well.. Investigations: Investigations are normal. What might be the cause of these symptoms?
    Trimethylaminuria -
  319. Case 319. A 3 year old boy presents with learning difficulties at playschool. The parent comments that he was slow to reach his motor milestones, walking and standing at age 20 months. You note a mild smell of boiled cabbage.. Investigations: What might be the cause of these symptoms?
    Hypermethioninaemia. -

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