Term
| Infant with failure to thrive, hepatosplenomegaly, neurodegeneration, cherry red macula |
|
Definition
| Neimann-Pick disease (genetic sphingomyelinase deficiency) |
|
|
Term
| Infant with hypoglycemia, failure to thrive, and hepatomegaly |
|
Definition
| Cori's disease (debranching enzyme deficiency) |
|
|
Term
| Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect |
|
Definition
| Edward's syndrome (trisomy 18) |
|
|
Term
| Keratin pearls on skin biopsy |
|
Definition
Squamous cell carcinoma
(will also be seen in squamous cell carcinoma of the lung and cervix) |
|
|
Term
| Large rash with bulls-eye appearance |
|
Definition
| Erythema chronicum migrans from Ixodes tick bite (Lyme diseaes-->Borrelia burgdorferi infection) |
|
|
Term
| Lucid interval after traumatic brain injury |
|
Definition
| Epidural hematoma (middle meningeal artery rupture) |
|
|
Term
| Male child, recurrent infections, no B cells |
|
Definition
| Bruton's agammaglobulinemia (X-linked) |
|
|
Term
| Mucosal bleeding and prolonged bleeding time |
|
Definition
| Glanzmann's thrombasthenia (defect in platelett aggregation due to lack of GpIIb/3a |
|
|
Term
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth |
|
Definition
| Garner's syndrome (subtype of FAB, predisposed to colon cancer) |
|
|
Term
| Myopathy (infantile hypertrophic cardiomyopathy), excercise intolerance |
|
Definition
| Pompe's disease (lysosomal alpha-1,4-glucosidase deficiency) |
|
|
Term
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
|
Definition
| Wegener's (c-anca positive) and Goodpasture's syndromes (anti-BM antibodies) |
|
|
Term
| neonate with arm paralysis after a difficult birth |
|
Definition
| Erb-Duchenne palsy (superior trunk [C5-C6] of brachial plexus injury: waiter's tip) |
|
|
Term
| No lactation postpartum, amenorrhea, cold intolerance |
|
Definition
| Sheehan's syndrome (pituitary infarction) |
|
|
Term
| Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia |
|
Definition
|
|
Term
| Oscillating slow/fast breathing |
|
Definition
| Cheyenne-Stokes respirations (central apnea in CHF or increased intracranial pressure) |
|
|
Term
| Painful blue fingers or toes, hemolytic anemia |
|
Definition
| Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis) |
|
|
Term
| Painful, pale, cold fingers/toes |
|
Definition
| Raynaud's syndrome (vasospasms in extremities) |
|
|
Term
| Painful, raised, red lesions on palms and soles |
|
Definition
| Osler's node (infective endocarditis) |
|
|
Term
|
Definition
| Cancer of the pancreatic head, obstructing the bile duct |
|
|
Term
| Painless erythematous lesions on palms and soles |
|
Definition
| Janeway lesions (infective endocarditis) |
|
|
Term
| Palpable purpura on buttocks/legs, joint pain, abdominal pain (child) |
|
Definition
| Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
|
|
Term
| Pancreatic, pituitary, parathyroid tumors |
|
Definition
| MEN I (autosomal dominant |
|
|
Term
| Pink complexion, dyspnea, hyperventilation |
|
Definition
| "Pink puffers" (emphysema: centoacinar [smoking], panacinar [a1-antitrypsin deficiency]) |
|
|
Term
| polyostic fibrous dysplasia, precocious puberty, short stature, cafe-au-lait spots in a young girl |
|
Definition
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