FA: Rapid Review 2 Flashcards
Infant with hyopglycemia, FTT and hepatomegaly
Cori disease (debranching enZ deficiency) or Von Gierke Diseaes (Glucose-6-phosphatase deficiency more severe)
Infant w/ microcephaly, rocker-bottom feet, clenched hands and structual heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender GB
Corvoisier sign (distal obstruction of biliary tree)
Large rash w/ bull’s eye apperance
Eythema chronicum migrans from ixodes tick bite or Lymes
Lucid interval after traumatic brain injury
Epidermal hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (X linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanxmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distened neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeary teeth
Gardner Syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1-4-glucosidase deficiency)
Noenate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk, C5-C6, brachial plexus injury; waiters tip)
No lactation postpartum, absent menstration, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmas, 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 pneumoniae, infectious mononucleosis)
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremeties)
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (ineffective endocarditis, septic emboli/ microabscesses)
Painless jaundice
Cancer of pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purprua (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid turmors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink Puffer” (emphysema; centriacinar [smoking], panacinar [alpha-1-trypsin deficiency].
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
Ptosis, miosis, anhidrosis
Horner Syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll Roberson pupil (neorosyphilis)
Rapidly progressive leg weakness that ascends following GI/UR infection)
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, secondary syphyilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)
Red ‘currant jelly’ sputum in alcoholic or diabetic patients
Kleibsiella pneumoniae
Red ‘currant jelly’ in stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Paget disease of breast (sign of underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemogioblastomas, angiomatosis, pheochromocytoma
von Hippel-Landau disease (dominant tumor suppresor gene mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rosving sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA xlink repair; often progresses to AML)
Single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dyenin arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Addison disease, primary adrenocortical insufficiency causes increase ACTH and increase alpha MSH production
Slow, progressive muscle weakness in boys
Becker musclular dystrophy (x-linked missense mutation in dystrophin; less severe than Duchenne)
Small irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measels; rubeola virus)
Smooth, flat, moist, painless white lesions on genitals
Conndylomata lata (secondary 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, petechiae
Scurvy (vit C deficiency; cant hydroxylate proline/lysine for collagen synthesis
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP; Bouchards nodes; DIP (Heberden nodes)
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
Urethritis, conjuctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine-stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss Syndrome (alchoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
