Haematology questions

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Haematology questions
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2014-04-02 12:34:12
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haematology pathology
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Pathology haematology questions
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  1. 1. A 14 year old female with a purpuric rash over her knees, haematuria and abdominal pain Investigations show: raised ESR. What is the diagnosis?
    Henoch-Schonlein purpura -
  2. 2. A 15 year old male presents with severe haemarthroses and joint pain. Investigations show: Prolonged APTT, normal PT,What is the diagnosis and what further tests would you like?
    Factor 8 deficiency (Haemophilia A) - vWF level (normal), Factor 8 level (low)
  3. 3. A 15 year old presents with splenomegaly. There are no bone deformities, cardiomegaly, diabetes Investigations show: Markedly microcytic, hypochromic anaemia, supravital staining shows 'golf balls',What is the next test that should be done, and for what?
    Haemoglobin H disease - haemoglobin electrophoresis / DNA analysis
  4. 4. A 17 year old male presents with bleeding in their mouth and epistaxes. Investigations show: APTT prolonged, PT normal, bleeding time prolonged, mild thrombocytopenia, defective platelet function,What is the diagnosis and what other tests would you like?
    von Willebrand Factor deficiency - vWF level (low), Factor 8 level (low)
  5. 5. A 17 year old male presents with cervical painless lymphadenopathy, which are painful after ingesting alcohol. He has noticed pruritus and night sweats. Investigations show: Reed-Sternberg cells, normochromic, normocytic anaemia, eosinophilia, leucoerythroblastic blood film, raised ESR, abnormal LFTs,What is the diagnosis?
    Hodgkin Lymphoma -
  6. 6. A 17 year old with severe b thalasaemia major has been managed with blood transfusions presents with darkened skin and delayed sexual development. Investigations show: Sideroblasts,What is the likely diagnosis and what else should you be concerned about?
    Iron overload as a result of blood transfusions - cardiac failure or arrhythmia, liver abnormality. Consider splenectomy.
  7. 7. A 20 YO female presents with non-specific fatigue and difficulty keeping awake in class Investigations show: hypochromic microcytic anaemia, raised platelet count, target cells and pencil cells, poikilocytosis,What is the most likely diagnosis?
    iron deficiency anaemia - Serum ferritin (reduced), serum iron (low), transferrin (raised)
  8. 8. A 20 YO patient presents with hypopituitarism, diabetes and darkened skin colour. He has also been suffering from pseudogout. Investigations show: raised serium iron and ferritin, low hepcidin,What is the most likely cause?
    primary haemochromatosis - Check heart function, LFTs, MRI to detect iron accumulation
  9. 9. A 22YO female. Investigations show: Target cells and anaemia,What is the most likely cause?
    iron deficiency anaemia -
  10. 10. A 23YO female Investigations show: Pencil cells,What is the most likely cause?
    iron deficiency anaemia - ferritin levels
  11. 11. A 24 year old female presents with recurrent foetal loss, and a family history of early strokes Investigations show: APTT prolonged and not corrected by adding normal plasma.,What is the likely diagnosis and what investigation would you perform next?
    Anti-phospholipid syndrome - ANA, Anti-phospholipid antibodies
  12. 12. A 25 week foetus has been diagnosed with functional inactivity of 3 a-haemoglobin genes. Investigations show: A 25 week foetus has been diagnosed with functional inactivity of 3 a-haemoglobin genes.,What is its prognosis?
    Haemoglobin H disease - good - microcytic hypochromic anaemia, but otherwise well.
  13. 13. A 25 YO female presents with portal vein thrombosis and a history of recurrent infections Investigations show: neutropenia, thrombocytopenia, iron deficiency, positive acid lysis (Ham's) test, RBC CD59/55 negative,What is the diagnosis?
    Paroxysmal nocturnal haemoglobinuria - Chronic intravascular haemolysis causes iron deficiency.
  14. 14. A 26 year old female presents with acute shortness of breath following a mild cough, complaining of excruciating chest pain. Investigations show: Pulmonary infiltrate on x ray, hypoxic, ECG normal, anaemic,What should you consider?
    Sickle cell - acute chest syndrome - Management is urgent - this is a common cause of death.
  15. 15. A 26 year old female presents with recurrent foetal loss, and a familial history of pulmonary embolism. Investigations show: A 26 year old female presents with recurrent foetal loss, and a familial history of pulmonary embolism. ,What genetic mutation of the clotting cascade should be tested for?
    Factor 5 (Factor V Leiden) -
  16. 16. A 27 year old female presents with splenomegaly after taking methyldopa for her pre-eclampsia Investigations show: Coombs test (DAT) positive, microspherocytes, polychromasia,What is the most likely cause?
    Warm autoimmune haemolytic anaemia secondary to methyldopa -
  17. 17. A 27 year old female with a history of salmonellosis presents with anaemia after a week of coughs and colds. Investigations show: Severe anaemia,What is your diagnosis?
    Sickle cell - aplastic crisis - These often follow parvovirus B19 infection.
  18. 18. A 3 year old female with recurrent epistaxis and a purpuric rash, following a viral infection. This eventually resolves spontaneously Investigations show: Low platelets, normal coagulation and bone marrow. ,What is the diagnosis and what should this child be also tested for?
    Autoimmune thrombocytopenia - Test ANA and anti-cardiolipin, as this is associated with malignancies, infections and connective tissue diseases
  19. 19. A 30 YOM presents with diabetes and cardiomyopathy. He has already been investigated for primary haemochromatosis. Investigations show: raised serium iron and ferritin, low hepcidin. He has a microcytic anaemia,What is the most likely cause?
    Thalassaemia intermedia - haemoglobin electrophoresis / DNA analysis
  20. 20. A 30YO male presenting with iron deficiency anaemia. He says it runs in the family. Investigations show: A 30YO male presenting with iron deficiency anaemia. He says it runs in the family.,What should you consider?
    thalassaemia trait - haemoglobin electrophoresis / DNA analysis
  21. 21. A 34 year old female presents with fatigue after taking a course of tetracyclin as prophylaxis against meningococcal disease Investigations show: anaemia,What is the most likely cause?
    Tetracycline induced iron malabsorption -
  22. 22. A 34 year old male of indian descent presents with a fit. Investigations show: Cranial doppler - flow disturbances, anaemia, film: target cells, sickle cells,What is the diagnosis and how is it managed?
    Sickle cell - vasculo-occlusive crisis - Rehydration, analgesia, o2 if hypoxia, antibiotics if required.
  23. 23. A 35 year old female with SLE presents with fever and easy bruising. Investigations show: Red cell fragmentation, positive Schumm's test, thrombocytopenia, normal clotting times, LFTs abnormal,What is the diagnosis?
    Thrombotic thrombocytopenic purpura -
  24. 24. A 35 YO female presents with splenomegaly and jaundice Investigations show: raised indirect bilirubin, positive Coombs test, ,What underlying disease should you exclude?
    This is warm autoimmune haemolytic anaemia - look for SLE and CLL - Consider immunosuppression
  25. 25. A 37 year old female presents with SOBOE and dark urine 3 weeks after a diarrhoeal illness. Investigations show: red cell fragments,What is the underlying bacterium most likely to be responsible for this?
    E. coli 0157 - HUS - Also can be Shigella
  26. 26. A 4 YO female presents with a 3 month history of easy bruising, SOB and recurrent infections, with sweating, fever and malaise. Investigations show: Lymphadenopathy, hepatosplenomegaly, anaemia, thrombocytopenia, neutropenia, leucocytosis, bone marrow: blast cells. Lymphoblast,What is the most likely diagnosis?
    ALL - B cell lineage - Immunotyping and cytogenetic testing.
  27. 27. A 40 YO female with a history of coeliac disease complains of fatigue Investigations show: Macrocytosis with oval RBCs and anaemia,What is the most likely cause?
    Folate deficiency - b12 levels, folate levels
  28. 28. A 40YO male Investigations show: Stomatocyte,What is the most likely cause?
    alcoholism, liver disease - LFTs
  29. 29. A 40YO male presenting with shortness of breath Investigations show: sideroblastic anaemia, with leucopenia and thrombocytopenia, raised MCV,What are you concerned about?
    Myelodysplasia - Bone marrow biopsy
  30. 30. A 42 year old male presents with weight loss, night sweats, gout and left hypochondrial pain. He also has more frequent headaches Investigations show: Massive splenomegaly, raised WCC (mainly neutrophils and myelocytes), raised eosinophils, raised uric acid, hypercellular bone m,What is the most likely cause?
    CML - 9:22 translocation
  31. 31. A 43 year old female presents with gangrenous toes, with a history of headaches, spontaneous haemorrhages and visual disturbances. Investigations show: Raised platelet count, and raised white and red cell count. Platelet anisocytosis with circulating megakaryocyte fragments. Targ,What is the diagnosis?
    Essential thrombocythaemia - Autoinfarction of the spleen causes the red cell changes.
  32. 32. A 46 year old patient presents with dark urine and swinging fevers after a visit to the tropics. Investigations show: positive Schurr's test, haemoglobinuria, renal failure, thrombocytopenia,What is the disease and causative factor?
    Blackwater fever - plasmodium falciparum -
  33. 33. A 5 month old male presents with mild jaundice, intercurrent infection and failure to thrive. There is skull bossing and hepatosplenomegaly Investigations show: x ray shows 'hair on end' appearance of skull, severe microcytic anaemia. Blood film shows hypochromic, microcytic cells, target,What is the most likely diagnosis?
    B Thalassaemia - DNA analysis and haemoglobin electrophoresis.
  34. 34. A 50 YO female presenting with fatigue and recurrent infections Investigations show: basket cells (smudge cells), anaemia, thrombocytopenia,What is the most likely diagnosis?
    CLL - Bone marrow biopsy
  35. 35. A 50 YO female presenting with fatigue, burning sensation on the tongue, smooth shiny red dorsum of tongue, dysphagia and angular stomatitis Investigations show: thin hair, koilonychia,What is the most likely diagnosis?
    Plummer Vinson syndrome - Anaemia, iron levels
  36. 36. A 50 YO male presenting with fatigue, SOBOE, bone pain and easy bruising Investigations show: anaemia, thrombocytopenia, splenomegaly, poikilocytes,What is the most likely diagnosis?
    Myelofibrosis - Bone marrow biopsy
  37. 37. a 50YO male builder presents with abdominal pain, constipation, anaemia, peripheral neuropathy and a blue line of on his gums. Investigations show: punctate basophilia, and haemolysis,What is the most likely cause?
    lead poisoning - lead levels, chelate lead
  38. 38. A 50YO male with a history of Addison's disease presents complaining of peripheral neuropathy and shortness of breath Investigations show: Macrocytosis with oval RBCs and anaemia. Moderately reduced platelets and leucocytes.,What is the most likely cause?
    pernicious anaemia - b12 levels, intrinsic factor Antibodies
  39. 39. A 54 year old female presents with a high fever after starting carbimazole 3 years ago for Graves' disease Investigations show: neutropenia, agranulocytosis,What is the most likely diagnosis?
    Idiosyncratic agranulocytosis secondary to carbimazole treatment -
  40. 40. A 54 year old patient presents with scleroderma-like syndrome, with joint abnormalities and lung problems, 4 months after a stem cell transplant Investigations show: none available yet,What is the most likely occurrence?
    chronic Graft v Host reaction -
  41. 41. A 55 year old female with known advanced liver disease presents with purpura, ecchymoses, and shortness of breath Investigations show: reduced GFR, thrombocytopenia, abnormal coagulation, blood film shows microangiopathic haemolytic anaemia,What is the diagnosis?
    Disseminated Intravascular Coagulation (DIC) -
  42. 42. A 55 year old male presents with skin ulcers after a visit to Egypt. Investigations show: hepatomegaly, splenomegaly, hypoergammaglobulinaemia, normochromic anaemia, raised ESR, bone marrow shows macrophages containing,What disease is this?
    Leishmaniasis -
  43. 43. A 55 year old male with hypertension and diabetes presents acutely with aphasia Investigations show: CT head shows ischaemic stroke,What is your acute management?
    Streptokinase, aspirin and heparin. -
  44. 44. a 5YO male presents with nausea, abdominal pain, blood-stained vomiting, after playing out in the garden Investigations show: LFTs are abnormal,What are you concerned about?
    lead poisoning - gastric lavage, IV desferrioxamine (iron chelating agent)
  45. 45. A 60YO male with a history of renal failure is on dialysis, and complains of fatigue. On examination he has NO peripheral neuropathy Investigations show: Macrocytosis with oval RBCs and anaemia,What is the most likely diagnosis?
    Folate deficiency - b12 levels, folate levels
  46. 46. A 65 year old male presents with left hypochondrial pain, weight loss, night sweats and gout. Investigations show: Normochromic normocytic anaemia. Circulating megakaryotes. Red cell poikilocytosis, leucoerythroblastic picture. JAK02 positive.,What is the likely diagnosis?
    Myelofibrosis - Median survival is about 5 years.
  47. 47. A 67 year old female with a history of alcoholic liver disease presents with SOB. Investigations show: Schurr's test positive, hypertriglyceridaemia,What syndrome is described here?
    Zieve's syndrome -
  48. 48. A 67 year old male presents with splenomegaly and heart failure Investigations show: positive Direct (coombs) test, urine haemoglobin, thrombocytopaenia,What syndrome is described here?
    Evan's syndrome - warm autoimmune haemolytic anaemia with autoimmune thrombocytopaenia -
  49. 49. A 71 year old male presents with lower back pain, recurrent infections and loin main, with carpal tunnel syndrome. Investigations show: anaemia, neutropenia, thrombocytopenia, raised ESR, blood film: rouleaux, paraprotein, urine Bence Jones protein, 'pepperpot' sk,What is the diagnosis?
    Multiple myeloma -
  50. 50. A 72 year old male presents with incidental leukocytosis. On questioning, he has painless symmetrical lymphadenopathy, night sweats and SOBOE Investigations show: splenomegaly, hypogammaglobulinaemia, autoimmune haemolytic anaemia, ,What is the likely diagnosis
    CLL -
  51. 51. A 73 year old female presents with incidental serum paraprotein. No other symptoms Investigations show: No Bence Jones protein, normal immunoglobulin levels, no skeletal abnormalities, less than 10% of plasma cells in the marrow.,What is the provisional diagnosis, and what must you exclude?
    Benign monoclonal gammopathy (MGUS) - multiple myeloma
  52. 52. A 76 year old female presents with pancytopenia several years post-chemotherapy Investigations show: Macrocytic anaemia, neutrophils are hypogranular with pseudo-Pelger forms. Bone marrow is hypercellular, ringed sideroblasts in ,What broad spectrum of diseases are you concerned about?
    Myelodysplasia - Distinction between MDS, myelofibrosis and aplasia may be difficult
  53. 53. A 76 year old male presents with confusion, headache and visual disturbance. Investigations show: IgM paraprotein, hyperviscosity, plasma cells and lymphocytes in the bone marrow and spleen.,What is the diagnosis?
    Waldenstrom's macroglobulinaemia -
  54. 54. A 76 year old patient with a history of Sjogren's syndrome presents with lymphadenopathy, splenomegaly and a skin nodule. Investigations show: Pancytopaenia, raised LDH, lymphocytosis,What is the diagnosis?
    Non-Hodgkin Lymphoma - Dermatological presentations are more common in T cell lymphomas
  55. 55. A 78 year old woman presents with a ruddy complexion and visual disturbances. Investigations show: Raised haematocrit, raised WCC, raised uric acid, low EPO, hypercellular bone marrow with prominent megakaryocytes,What is the diagnosis and what mutation would you look for?
    Polycythaemia Vera - JAK-2 mutation (in almost 100% of cases)
  56. 56. A 78 year old woman with a history of rheumatoid arthiritis presents with fatigue Investigations show: Moderate anaemia, mildly hypochromic, reduced serum iron, raised ferritin, raised ESR, raised CRP,What is the likely diagnosis?
    Anaemia of chronic disease -
  57. 57. A 7YO male presents with a cheek rash like a 'slapped cheek', following a similar case a week ago by another child in his class. The rash spares the nasolabial folds, and has been accompanied by myalgia, fever, headache and diarrhoea. Investigations show: no significant abnormalities,Who might be at risk if in contact with this child?
    Sickle cell anaemia (aplastic crisis) - disease is Parvovirus B19 -
  58. 58. A 8 year old boy presents with a mild hypochromic microcytic anaemia on incidental finding. Investigations show: Raised red cell count, raised Haemoglobin A2 levels. Iron stores are normal,What is the most likely diagnosis?
    B thalassaemia trait - No management except genetic counselling.
  59. 59. A 8 year old girl presents with hand and foot pain. She has only mild symptoms of anaemia. Investigations show: Hg: 7-9. Blood filk shows sickle cells, target cells and features of splenic atrophy. There is increased turbidity of the blood ,What is the diagnosis and how is it managed short-term
    Sickle cell - hand-food syndrome - Rehydration, analgesia, o2 if hypoxia, antibiotics if required.
  60. 60. A 80 YO male presents with difficulty in gait, and a problem with mood, and fatigue. You are concerned about myelodysplastic syndromes, so you conduct a bone marrow biopsy. Investigations show: Hypercellular bone marrow, megaloblastic erythropoiesis, giant metamyelocytes, raised indirect serium bilirubin, raised lactate ,What is the most common cause for his symptoms.
    B12 deficiency - folate levels, IF and parietal cell autoantibodies
  61. 61. A 83 year old female with a history of AIDS presents with widely disseminated lymphadenopathy Investigations show: raised b2 microglobulin, pancytopenia,What is the diagnosis?
    Non-Hodgkin Lymphoma -
  62. 62. A 83 year old male presents with Budd-Chiari syndrome and a history of pulmonary embolism. They also have splenomegaly Investigations show: Raised haematocrit, low EPO, depleted iron stores, no renal disease ,What is the diagnosis and management?
    Polycythaemia Vera - Venesection.
  63. 63. A 85 year old male presents with recurrent infections and fatigue. He has noticed hypertrophic gums. Investigations show: Anaemia, thrombocytopenia, neutropenia, abnormal coagulation, Auer rods, Sudan black positive blast granules,What is the most likely diagnosis?
    AML -
  64. 64. A child is diagnosed with heriditary spherocytosis. Investigations show: severe anaemia,What is your management?
    splenectomy, prophylactic folic acid -
  65. 65. A child with depressed cell mediated immunity, with tetralogy of Fallot and abnormal facies Investigations show: abnormalities of chromosome 22,What is the most likely syndrome responsible?
    diGeorge syndrome - thyroid, parathyroid, palate, calcium levels
  66. 66. A female 40 YO presents with jaundice and a feeling of fullness. Investigations show: Splenomegaly, indirect bilirubin raised, polychromasia, raised urine haemoglobin, positive Schumm's test for methaemalbumin, uri,What broad spectrum of diseases are you concerned about?
    Haemolytic anaemias - Direct Coombs test, full blood count
  67. 67. A female infant presents with anaemia and jaundice, with ankle ulcers on examination. Investigations show: microspherocytes, splenomegaly, polychromasia,What is the most common inherited cause?
    Heriditary spherocytosis - N-ethylmaleimide, direct antiglobulin test is negative, check osmotic fragility.
  68. 68. A male 45 YO presents with jaundice and rigors and new onset Raynaud's phenomenon Investigations show: Positive direct (Coombs test), positive Schumm's test and urine haemoglobin,What syndrome should you suspect?
    Cold autoimmune haemolytic anaemia - with Evan's syndrome - test for C3d, treat with immunosuppression.
  69. 69. A male infant of mediterranean heritage presents with prolonged neonatal jaundice. When in a stable state, investigations are performed. Investigations show: NADPH generation reduced. Normal blood film,What should you consider?
    G6PD deficiency - Usually X linked. Avoid fava beans and certain drugs.
  70. 70. A male infant of oriental heritage presents with jaundice after being given antimalarials. Investigations show: bite' and 'blister' cells, polychromasia, Heinz bodies in a reticulocyte preparation, acute intravascular haemolysis,What is the most likely cause?
    G6PD deficiency - Usually X linked. Check renal function
  71. 71. A neonate is born with abormal renal system, abnormal facies and a severe pancytopaenia. Investigations show: Pancytopaenia, normocytic. Bone marrow is hypoplastic.,What is your diagnosis and what kinds of malignancies might you expect?
    Fanconi anaemia - Haematological malignancies
  72. 72. A neonate is born with an abnormal renal system, a cleft lip and a cardiac defect Investigations show: Severe anaemia, no reticulocytes in peripheral blood, few erythroblasts in bone marrow. Other cell lines are normal,What is your diagnosis?
    Diamond-Blackfan anaemia - Genetic testing
  73. 73. A patient complaining of a recent fever, loin pain Investigations show: echinocyte/burr cells,What is the most likely cause?
    renal disease - LFTs (just in case), urea levels
  74. 74. A patient presenting with bone pain, african descent Investigations show: howell-jolly bodies,What should you consider?
    sickle cell anaemia - blood film.
  75. 75. A patient presenting with fatigue, dizziness, hepatosplenomegaly. Investigations show: siderotic granules (pappenheimer bodies),What should you consider?
    sideroblastic anaemia, which can evolve into a myelodysplastic anaemia (i.e. AML) - Check blood film, possibly bone marrow biopsy
  76. 76. A patient presents in shock, with a fever. Investigations show: Fragments of RBCs,What are you concerned about?
    DIC - complement etc.
  77. 77. A patient presents with a skin rash and diarrhoea, 8 days after a stem cell transplantation Investigations show: abnormal LFTs,What is the most likely cause?
    acute Graft v Host reaction -
  78. 78. A patient presents with jaundice Investigations show: high direct bilirubin, haemolytic anaemia, elliptocyte,What is the most likely diagnosis?
    Heriditary elliptocytosis - Family history
  79. 79. A patient presents with splenomegaly. Investigations show: raised MCV, target cells, echinocytes, acanthocytes, anaemia,What is the likely cause and what other investigations would you perform?
    Liver disease - consider ALD - LFTs
  80. 80. A patient shows signs of shock, minutes after beginning a blood transfusion. Investigations show: BP: 60/50,What is the most likely cause of error?
    Administrative or human error. - Stop the transfusion immediately. This may be anaphylactic shock.
  81. 81. A patient who is being treated for a UTI has incidental anaemia. Investigations show: Normochromic, normocytic anaemia, reduced EPO levels, echinocytes (burr cells),What is the likely cause and what other investigations would you perform?
    Anaemia of renal disease - GFR, urea
  82. 82. A patient with a cough and a history of foreign travel Investigations show: Eosinophilia,What is the most likely syndrome responsible?
    Loeffler's syndrome - Look for evidence of parasites e.g. ascaris lumbricoides
  83. 83. A patient with EBV comes in with easy bruising and petechial rash Investigations show: Paul-Bunnell test / monospot slide test positive.,What is the most common cause?
    autoimmune thrombocytopenia post-EBV -
  84. 84. A patient with neutropenia, and rheumatoid arthiritis Investigations show: A patient with neutropenia, and rheumatoid arthiritis,What is the most likely syndrome responsible?
    Felty's syndrome -
  85. 85. A Rhesus negative woman para 1 has just given birth Investigations show: Foetus is Rhesus positive,What should be given to the mother and what test should be done immediately?
    anti-D antibodies (to prevent sensitization) - Kleihauer test
  86. 86. A young adult with a morbilliform rash after treatment with amoxicillin for a sore throat Investigations show: Lymphocytosis,What is the most common cause?
    EBV - Viral culture from saliva / anatibody test
  87. 87. A young adult with a sore throat, lymphadenopathy, fever, and jaundice. Investigations show: Lymphocytosis,What is the most common cause?
    EBV - Viral culture from saliva / anatibody test
  88. 88. A young patient of Jewish descent enters with hepatosplenomegaly, bone defects, easy bruising Investigations show: anaemia, thrombocytopenia,What is the most likely storage disease responsible?
    Gaucher's disease - enzyme replacement therapy
  89. 89. An 80 year old patient with a 5 year history of CLL presents with a sudden onset of fever and rapidly enlarging lymph nodes Investigations show: No neutrophilia, raised LDH,What is the likely diagnosis and prognosis?
    Richter's syndrome - Poor prognosis
  90. 90. An 80 YO female has a routine macrocytosis on blood tests Investigations show: Normal white cells and platelets. Moderately raised MCV, normoblastic bone marrow,What is the most common cause, and what should you exclude?
    Alcohol - Hypothyroidism, LFTs, reticulocyte count
  91. 91. An alcoholic with jaundice Investigations show: Macrocytosis with oval RBCs and anaemia,What is the most likely cause?
    Megaloblastic anaemia - B12 and folate
  92. 92. An infant presenting with failure to thrive, steatorrhoea Investigations show: Acanthocytes,What is the most likely cause?
    Abetalipoproteinaemia - Vitamin A,D,E,K levels

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