Rapid Review 2 Flashcards
infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Niemann-Pick Disease
infant with hypoglycemia, failure to thrive, hepatomegaly
Cori’s Disease
infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards’ Syndrome (trisomy 18)
jaundice, palpable distended non-tender gallbladder
Courvoisier’s Sign (distal obstruction of biliary tree)
large rash with bull’s-eye appearance
erythema chronicum migrans (Lyme Disease)
lucid interval after traumatic brain injury
epidural hematoma
male child with recurrent infections and no mature B-cells
Bruton’s disease (X-linked agammaglobulinemia)
mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner’s Syndrome
myopathy/infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe’s Disease
neonate with arm paralysis following difficult birth
Erb-Duchenne Palsy (C5-C6, waiter’s tip)
no lacation postpartum, absent menstruation, cold intolerance
Sheehan’s Syndrome
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased ICP)
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease due to mycoplasma
painful, pale, cold fingers/toes
Raynaud’s phenomenon
painful, raised red lesions on pad of fingers or toes
Osler’s Node
painless erythematous lesions on palms and soles
Janeway lesions
painless jaundice
cancer of the pancreatic head obstructing bile duct
palpable purpura on buttocks or legs, joint pain, abdominal pain, hematuria
Henoch-Schonlein Purpura
pancreatic, pituitary, and parathyroid tumors
MEN1 (AD)
periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
pink complexion, dyspnea, hyperventilation
pink puffer due to emphysema
polyuria, RTA Type II, growth failure, electrolyte imbalances, hypophophatemic rickets
Fanconi’s Syndrome
positive anterior drawer sign
ACL injury
pruritic, purple, polygonal planar papules and plaques
Lichen planus
ptosis, miosis, anhidrosis
Horner’s Syndrome
pupil accommodates but does not react
Argyll Robertson pupils
rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre Syndrome
rash on palms and soles
coxsackie A, secondary syphilis, RMSF
recurrent colds, unusual eczema, high serum IgE
Hyper-IgE Syndrome/Job’s syndrome
red currant jelly sputum in alcoholic or diabetic pts
Klebsiella pneumoniae
red currant jelly stools
acute mesenteric ischemia or intussusception in infants
red, itchy, swollen rash of nipple/areola
Paget’s disease of the breast (underlying cancer)
red urine in the morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
bilateral RCC, hemangioblastomas, angiomatosis, pheo
VHL
resting tremor, rigidity, akinesia, postural instability
Parkinson’s Disease
retinal hemorrhages with pale centers
Roth’s spots (bacterial endocarditis)
severe jaundice in neonate
Crigler-Najjar Syndrome
severe RLQ pain with palpation of LLQ
Rovsing’s sign (acute appendicitis)
severe RLQ pain with rebound tenderness
McBurney’s Sign (appendicitis)
short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi’s Anemia
single palmar crease
Simian crease (Down Syndrome)
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s Syndrome (dynein defect)
skin hyperpigmentation, hypotension, fatigue
Addison’s Disease
slow, progressive muscle weakness in boys
Becker’s muscular dystrophy
small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles/rubeola)
smooth, flat, moist, painless white lesions on genitals
condylomata lata of secondary syphilis
splinter hemorrhages in fingernails
bacterial endocarditis
strawberry tongue
scarlet fever, Kawasaki disease, TSS
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner’s
sudden swollen/painful big toe joint, tophi
gout/podagra
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy/vitamin C deficiency
swollen, hard painful finger joints
OA (osteophytes on PIP = Bouchard’s nodes, osteophytes on DIP = Heberden’s nodes
systolic ejection murmur (crescendo-decrescendo)
aortic valve stenosis
thyroid tumors, parathyroid tumors, pheo
MEN2A
thryoid tumors, pheo, mucosal neuromas
MEN2B
unilateral facial drooping involving forehead
facial nerve palsy
urethritis, conjunctivitis, arthritis in a male
reactive arthritis (HLA-B27)
vascular birthmark (port-wine stain)
hemangioma (Sturge-Weber Syndrome)
vomiting blood following gastroesophageal lacerations
Mallory-Weiss Syndrome (alcoholics and bulemics)
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s Disease
worst headache of my life
subarachnoid hemorrhage
