classical presentations 2 Flashcards
infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease
genetic sphingomyelinase deficiency
infant w/ hypoglycemia, failure to thrive and hepatomegaly
Cori’s disease
debranching enzyme deficiency
infant w/ microcephaly, rocker-bottom feet, clenched hands and structural heart defect
Edward’s syndrome
trisomy 18
jaundice, palpable distended non-tender gallbladder
Courvoisier’s sign
distal obstruction of biliary tree
large rash w/ bull’s eye appearance
erythema chronicum migrans from Ixodes tick bite
Lyme disease: Borrelia
Lucid interval after traumatic brain injury
epidural hematoma
middle meningeal artery rupture
male child, recurrent infections, 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 (subtype of FAP)
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease
lysosomal alpha-1,4-glucosidase deficiency
neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy
(superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”
no lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome
pituitary infarction
nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
oscillating slow/fast breathing
Cheyne-Stokes respirations
central apnea in CHF or increase intracranial pressure
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease
AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis
painful, pale, cole fingers/toes
Raynaud’s phenomenon
vasospasm in extremities
painful, raised red lesions on pad of fingers/toes
Osler’s node
infective endocarditis, septic emboli/microabscesses
painful jaundice
cancer of pancreatic head obstructing bile duct
palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura
IgA vasculitis affecting skin and kidneys
pancreatic, pituitary, parathyroid tumors
MEN I (autosomal dominant)
periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
“pink puffer”
(emphysema: centriacinar [smoking],
panacinar=>alpha-1 antitrypsin deficiency
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome
proximal tubular reabsorption defect
positive anterior drawer sign
ACL injury
pruritic, purple, polygonal planar papules, plaques (6 Ps)
Lichen planus
Ptosis, miosis, anhidrosis
Horner’s syndrome
sympathetic chain lesion
pupil accommodates but does not react
Argyll Robertson pupil
neurosyphilis
rapidly progressive leg weakness that ascends following GI/URI
Guillain Barre syndrome
acute AI inflammatory demyelinating polyneuropathy
rash on palms and soles
Coxsackie A, 2’ syphilis, Rocky Mountain spotted fever
recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome
Job’s syndrome: neutrophil chemotaxis abnormality
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
acute mesenteric ischemia (adults);
intussusception (infant up to 2y/o)
red, itchy, swollen rash of nipple/areola
Paget’s disease of breast
represents underlying neoplasm
red urine in morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
renal cell CA (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
dominant tumor suppressor gene mutation
resting tremor, rigidity, akinesia, postural instability
Parkinson’s disease
nigrostriatal dopamine depletion
retinal hemorrhages w/ pale centers
Roth’s spots
bacterial endocarditis
sever jaundice in neonate
Crigler-Najjar syndrome
congenital unconjugated hyperbilirubinemia
severe RLQ pain w/ palpation of LLQ
Rovsing’s sign
acute appendicitis
severe RLQ pain w/ rebound tenderness
McBurney;s sign
appendicitis
short stature, increase incidence of tumors/leukemia, aplastic anemia
Fanconi’s anemia
genetic loss of DNA crosslink repair; often to AML
single palmar crease
Simian crease
Down syndrome
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome
dynein arm defect affecting cilia
skin hyperpigmentation, hypotension, fatigue
Addison’s disease
1’ adrenocortical insufficiency causes increase in ACTH and increase alpha-MSH production
slow, progressive muscle weakness in boys
Becker’s muscular dystrophy
X-linked missense mutation in dystrophin => less severe than Duchenne’s
small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
koplik spots
measles; rubeola virus
smooth, flat, moist, painless white lesions on genitals
condylomata lata
2’ syphilis
splinter hemorrhages in fingernails
bacterial endocarditis
“strawberry tongue”
scarlet fever, kawasaki disease, toxic shock syndrome
streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
45, XO
sudden swollen/painful big toe joint, tophi
Gout/podagra
hyperuricemia
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy
vit C deficiency: cannot hydroxylate proline/lysine for collagen synthesis
swollen, hard, painful finger joints
osteoarthritis
(osteophyties on PIP [Bouchard’s nodes],
DIP [Heberden’s nodes])
systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD ret mutation)
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
toe extension/fanning upon plantar scrape
Babinski sign
UMN lesion
unilateral facial drooping involving forehead
Facial nerve
LMN CN 7 palsy
urethritis, conjuctivitis, arthritis in a male
reactive arthritis assoc w/ HLA-B27
vascular birthmark (port-wine stain)
Hemangioma
benign, but assoc w/ Sturge-Weber syndrome
vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome
alcoholic and bulimic patients
weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s disease
tropheryma whipplei
worst headache of my life
subarachnoid hemorrhage
