Classic Presentations 2 Flashcards
infant with failure to thrive, hepatosplenomegaly and neurodegeneration
Niemann Pick Disease (genetic sphingomyelinase deficiency)
infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori’s Disease (debranching enzyme deficiency)
infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
jaundice, palpable distended non-tender gallbladder
Courvosier’s sign (distal obstruction of biliary tree)
large rash with bull’s eye appearance
Erythema chronic migraines from Ixodes tick bite (Lyme disease: Borrelia)
lucid interval after TBI
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, and 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 with 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 increased intracranial pressure)
painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mono)
painful, pale, cold fingers/toes
Raynaud’s phenomenon (vasospasm in extremities)
Painful raised red lesions on pad of fingers/toes
osler’s node (infectious endocarditis, immune complex deposition)
painless erythematous lesions on palms and soles
janeway lesions (infectious endocarditis, septic emboli, microabscesses)
painless jaundice
cancer of the pancreatic head, obstructing bile duct
palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria (child)
Henoch-Scholein purpura (IgA vasculitis affecting the skin and kidneys)
pancreatic, pituitary, parathyroid hormon
MEN 1 (Autosomal dominant)
periorbital edema/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, and hypophosphatemic rickets
Fanconi’s Syndrome (proximal tubular reabsorption defect)
positive anterior drawer sign
ACL injury
pruritic, purple, polygonal plana papules and plaques
lichen planus
ptosis, miosis, anhidrosis
horner’s syndrome (sympathetic chain lesion)
pupil accommodates but doesn’t react
Argyll Robertson Pupil (neurosyphilis)
rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
rash on palms and soles
Coxsackie A, Secondary 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 (infants)
red, itchy, swollen rash or nipple/areola
Paget’s disease of breast, represents underlying malignancy
RCC (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel Lindau disease (dominant tumor suppressor gene mutation)
red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglbinuria
resting tremor, rigidity, akinesia, postural instability
PD (nigrostriatal dopamine deletion)
Retinal hemorrhages with pale centers
Roth Spots (bacterial endocarditis)
severe jaundice in neonate
Criglar-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney’s sign (appendicitis)
short stature, increase incidence of tumors/leukemia, aplastic anemia
Fanconi’s anemia (genetic loss of DNA cross link repair; often progresses to AML)
single palmer crease
simian crease (down syndrome)
situs inversus, chronic sinusitis, bronchiectasis, infertility
kartagener’s syndrome (dyne in arm defect affecting cilia)
skin hyper pigmentation, hypotension, fatigue
addison’s disease (primary adrenocortical insufficiency causes increase in ACTH and an increase in alpha-MSH production–skin pigmentation)
slow, progressive mm 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 ucose with blue-white centers
koplik spots (measles; rubeola virus)
smooth, flat, moist, painless white lesions on genitals
condylomata lata (secondary syphilis)
splinter hemorrhages in fingernails
bacterial endocarditis
strawberry tongue
seen in 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
gout/podagra (hyperurecemia)
swollen gums, mucosal bleeding, poor wound healing, spots on skin
scurvy (vit C deficiency; can’t hydroxylate proline/lysine for collagen synthesis)
swollen, hard, painful finger joints
OA (osteophytes on PIP (Bouchard’s nodes), on DIP (Heberden’s nodes))
systolic ejection murmur (crescendo-decrescendo)
AO valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (autosomal dominant ret mutation)
thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN2B (autosomal dominant ret mutation)
