-
Turner's Syndrome
- XO genotype
- hypogodnadism, primary amenorrhea early ovarian failure
- short stature, webbed neck, prominent ears
- dx with karyotyping
- Tx estrogen/progesteron
-
Klinefelter's syndrome
- Males with XXY genotype
- hypogodnadism small testies
- tall stature small limbed
-
Fragile X
- x-linked genetic disorder MC gene related to autism
- mitral valve prolapse in younger males
- long narrow face, prominent forehead
-
down syndrome trisomy 21
- 3 copies of long arm of 21 chromosomelow-set small ears
- transverse singular simian crease on palm
- poor moro reflex
- congenital heart disease--ASD/VSD
-
Ehlers Danlos Syndrome
- genetic disorder of collagen synthesis
- ruptured aneurysms is morbidity
- skin hyperextensibility
- fragile connective tissue mitral prolapse
- joint hypermobility
-
Marfan Syndrome
- systemic connective tissue disease
- mitral valve prolapse, aortic dissection
- tall stature, pectus carinatum
- Occular--ectopia lentis
-
Neural Tube Defects
- maternal folate deficiency (methotrexate, valproic acid, phenytoin)
- spinal bifida
- myelomeningocele--spinal cord herniates through opening
-
Barlow Maneuver
posterior pressure on adducted flexed hip--positive if dislocated
-
Ortolani Maneuver
abduct flexed hips with palpation on greater trochanter feel for spasm or clunk
-
Still's Murmur
- MC innocent murmur
- early to mid systolic musical vibratory high pitched, loudest in left lower sternal border--diminishes with valsalva
-
Venous Hum
- 2nd most common innocent murmur
- harsh ejection mumur heard on upper left sternal border
- valsalve accentuates murmur
-
pulmonary ejection murmur
best heard in 2nd left intercostal space
-
Laryngeotracheitis (croup)
- MC in 6mo-6yrs bc of viral infection (parainfluenza virus)
- barking cough, seal like, stridor, hoarsness, dyspnea (worse at night)
- Steeple sign on x-ray
- Tx; humidified cool air, corticosteroids, nebulized epi in severe cases
-
Acute epiglottitis
- medical emergency
- MC etiology haemophilus influenza (Hib)
- 3 D's drooling, distress, dysphagia
- Dx: laryngoscopy, thumbprint sign on lateral xray
- Tx: airway management, ABX 2nd/3rd gen cephlosporins
-
Pertussis
- contagious infection from Bordetell pertussis
- catarrheal phase--URI symptoms 1-2wks
- paroxysmal phase--coughing fits 6 weeks
- convalescent phase--resolving of cough
- sequla--PMN
- ABX decreases spreading but doesn't affect prognosis--erythromycin or Bactrim
-
Cystic Fibrosis
- deficiency of CL transport across cell membrane--water out of cells
- thinck mucous in lungs
- meconium ileus at birth
- Dx: Chloride sweat test (lick the baby)
- bronchiectasis, hyperinflation of lungs
- pseudomonas
- Tx: airway management, enzyme replacement
-
Illeus meconium causes
- CF
- Hirshprung
- Imperforate anus
-
Kawasaki syndrome
- MC vasculitis in children < 5yrs old
- warm CREAM --> fever +
- Conjunctivitis
- Rash
- Extremity changes--Beu's lines (transverse nail grooves)
- Adenopathy
- Mucous membrane--strawberry tongue
- Complications --> MI
- Tx: IVIG
-
Coxsackie virus
- Hand, foot mouth disease
- rash on palms, vesicular lesions on erythematous base, stomatitis on soft palte
- pleuritic chest pain with B type and pericarditis is MC sequala
- Tx: supportive fluids
-
DDx for rashes on soles, palms
Coxsackie, RMSF, Syphilis, Kawasaki, Rubeola (Measles), Toxic Shock Syndrome
-
Vaccine Contraindications
- Hep b -- yeast "baker's yeast"
- Eggs--influenza
- Gelatin--varicella influenza
- Pregnancy--ok to give diphtheria, tetanus, flu, HBV
-
Acetaminophen OD
- hepatic necrosis, RUQ pain, jaundice
- Dx: LFTs, PT/PTT/INR, UA ECG
- Tx: N-acetylcysteine and activated charcol
-
Salicylates OD
- respiratory alkalosis-->metabolic acidosis
- hypokalemia
- Tx: activated charcol
-
Bases toxicity
- respiratory distress
- Dx: EGD to asses damage
- Tx: emesis prevention, small water or milk
-
Hydrocarbons toxicity
- aspiration pneumonitis
- Dx: UA, ECG, CXR (effusion)
- Tx: Abx if PNA, supportive, emesis prevention
-
Anticholinergics toxicity
- hyperthermia, tachycardia, hot flushed dry skin, mydriasis
- Dx: wide QRS, prolonged QT, Na channel clocking
- Tx: activated charcoal, physiostigmine, sodium bicarbonate
-
Cholinergic toxicity
- salivation, lacrimation, diarrhea, emesis, miosis
- Dx: RBC cholinesterase levels, serum glucose
- Tx: atropine + prlidoxime
-
Iron toxicity
- NV abd pain
- Dx: UA, LFTs, RBC, metabolic acidosis
- Tx: emesis & gastric lavage, Desferoxamine
-
Lead poisoning
- acquired sideroblastic anemia MC in children
- Dx: microcytic hypochromic anemia w/ basophilic stippling & ringed sideroblasts in bone marrow x-ray--lead lines and line in gums
- Tx: chelation therapy and remove lead exposure
-
Jaundice
- yellowing of skin and scalera
- Crigler Najjar syndrome--requires phototherapy
- Dx: increased indirect billi with normal LFTs
-
ASD
- MC in ostium secundum
- asymptomatic
- systolic crescendo-decrescendo murmur in pumonic area with widely splitting S2
- dx: ekg incomplete RBBB
- Tx: surgery or spontaneous correction
-
PDA
- communication between aorta and pulmonic artery
- asymptomatic
- Eisenmenger's syndrome--Pl HTN causes R-->L shunt-->hypoxia
- Continious machinery murmur loudest in pulmonic
- wide pulse pressue and bounding peripheral pulses
- Tx: indomethacin if preterm
-
Coarctation of aorta
- 2ndary HTN, claudication, failure to thrive
- systolic murmur that radiates to back/scapula
- increased BP in upper extremities
- delayed femoral pulse
- Dx: angiogram is gold standard
- CXR--rib notching 3 sign
- Tx: ballon angioplasty
-
ToF
- pulmonary HTN
- RVH
- VSD
- overriding aorta
- R-->L shunting
- Tet spells--cyanotic episodes--resolve with squatting
- Harsh holosystolic murmur at left sternal border
- CXR--boot shaped heart
- Tx: surgery
-
Acute bronchiolitis
- MC cause is RSV, lower respiratory tract infection
- infants and smoking are risk factors
- fever, URI--> respiratory distress and wheezing
- dx: peribronchial cuffing, pulse Ox in children < 96%
- Tx: supportive humidified O2 Corticosteroids if asthma, Ribavirin if immunocompromised
- Complication is otitis media and strep pneumo
-
Infant Respiratory Distress Syndrom
- MC cause of death in 1st month of life
- decrease in surfactant production
- tachypnea, tachycardia, chestwall retractions, grunting and nasal flaring
- CXR: bilateral diffuse ground-glass oapcities and air rbonchograms
- Tx: exogenous surfactant and steroids
-
Pyloric stenosis
- hypertrophy of pylorus
- MC cause of obstruction in infancy Mc in 3-12 weeks of life
- vomitin/regurgitation
- olive shaped mobile hard pyloris
- Dx: US mc test, upper GI "string sign"
- Tx: pyloromyotomy
-
Hirschsprung's disease
- congenital abscense of ganglion cells in distal colon
- obstruction
- Dx: abd x-ray shows obstruction, rectal biopsy is definitive
- Tx: resection of affected bowel
-
Erythem toxicum
- immune activation see in 70% of neonates
- erythematous papules pustules 3-5 days after birth--sparring palms and soles
- Tx: resolves in 1-2 weeks
-
Miliaria
- bloackage of sweat glands causeing secreation into epidermis and dermis
- crystalline
- rubra
- profunda
-
Milia
- white-yellow papules on cheeks, forehead, chin and nose
- Tx: resolve after 1 month but can last up to 3
-
Varicella
- different stages simultanesouly
- vesicles on erythematous base like dew drops on rose petal
- not palms or soles
-
Variola small pox
- Same stage simultaneously
- vesicles, pustules, scars
- classically involves palms and soles
-
Rubeola
- measles
- cough, coryza, conjunctivitis
- brick red rash beginning at hairline and moving towards extremities
- lasts 7 days
- Koplik spots on buccal mucosa
- otitis media Mc long term sequale
-
Rubella
- german measles
- pink-light red rash spotted on face and extremities
- lasts 3 days
- photosensitivity, arthralgias
- teratogenic ToARCH
-
Roseola
- 6th disease
- child is well appearing with high fever
- starts on trunk and "blooms" to extremities
- association with HHV6 and HHV7
-
Erythema Infectiosum
- 5th disease
- slapped cheek appearance on face lacy reticular rash on body
- aplastic crisis with sickle cell
-
Rocky Mountain Spotted Fever
- Fever, headache, rash
- red maculopapular rash on wrists and ankles
-
Kawasaki
- strawberry red tongue
- rare dreaded complication is MI
-
Scarlet fever
- strawberry tongue and sandpaper rash facial flushing
- Forchheimer spots-small red spots on soft palate
-
Prader-Willi
- prenatal hypotonia, postnatal growth delay, hypogodnadism
- under expression of chromosome 15
- floppy baby-->obesity b/c of craving for food
- almond shaped eyes
- Tx: growth hormone replacement, obesity control
-
Neurofibromatosis I
von Recklinhausen's disease
- Mc form of NF
- > 6 café au lait spots
- axillary freckling
- optic pathyway gliomas
- Dx: hyperweighted T2 signals on MRI
- Tx: remove if complicaitons optic screening
-
Neurofibromatosis II
- autosomal dominant CNS tumors
- Schawnomas, or vestibular neuromas
- Tx: surgery or bevacizumab
-
Tay-sachs disease
- autosomal recessive disorder of Ashkenazi Jews, eastern European descent, canjuns in LA and French Canadians
- premature neuron death
- increased startle reflex-->death by age 3-4
- cherry-red spots on retina
|
|
