Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd Chiari
Athlete with polycythemia
Erythropoietin injection
Bilateral hilar adenopathy, uveitis
Sarcoidosis
Bluish line on gingiva
Lead poisoning
NF-1
1) Cafe au lait
2) Lische nodules -> iris hamartoma
3) Pheochromocytoma
4) Optic glioma
McCune Albright
1) Mosiac G-protein signaling mutation
2) Cafe au lait, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Child with fever later develops red rash on face that spreads to body
Parvovirus B19
Conjugate lateral gaze palsy, horizontal diplopia
MLF
Bilateral -> MS
Unilateral -> stroke
Dry eyes, dry mouth, arthritis
Sjogren’s
Plummer Vinson syndrome
1) Glossitis, iron-deficiency anemia, esophageal web
2) Risk of esophageal squamous cell carcinoma
Enlarged, hard left supraclavicular node
Virchow’s triad -> abdominal met
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells
1) Sezary syndrome -> cutaneous T-cell lymphoma/ Mycosis fungiodes
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fibrous plaques in soft tissue of penis
Peyronie’s disease
Hamartomatous GI polyps, hyper-pigmentation of mouth, feet, hands
Peutz-Jeghers -> bowel obstruction, risk of cancer
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome -> alpha chain mutation of collagen IV
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver Bucy -> bilateral amygdala lesion
Hypoxemia, polycythemia, hypercapnia
Blue bloater -> bronchitis
Painful indurated, ulcerated genital lesion with exudate
Chancroid -> Haemophilus ducreyi
Non-painful indurated, ulcerated genital lesion
Chancre -> syphilis
Infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
Neimann-Pick
Infant with hypoglycemia, failure to thrive and hepatosplenomegaly
Cori’s disease (debranching enzyme)
Infant with 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 the biliary tree)
Lucid internal after traumatic brain injury
Epidural hematoma -> middle meningeal
Mucosal bleeding and prolonged bleeding time
Glazmann’s -> GpIIb/IIIa
Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth
Gardner’s syndrome (subtype of FAP)
Infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe’s -> lysosomal alpha 1,4 glucosidase deficiency
Neonate with arm paralysis after birth
C5-C6 brachial plexus injury
Cheyne Stokes respirations
CHF OR increased intracranial pressure
Painful blue fingers and toes with hemolytic anemia
Cold agglutination disease -> mycoplasma pneumonia or infectious mononucleosis
Painless jaundice
Pancreatic head cancer
Palpable purpura on butt/legs, joint pain, abdominal pain, hematuria
Henoch-Schonlein purpura -> IgA
Pink completion, dyspnea, hyperventilation
Pink puffer -> emphysema
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalance, hypophosphatemic rickets
Fanconi syndrome -> proximal tubular reabsorption defect
Pruritic, purple, polygonal planer papules and plaques
Lichen planus
Pupil accommodates but doesn’t react
Argyll Robertson pupil
Guillan Barre
1) Ascends
2) “acute autoimmune inflammatory demyelinating polyneuropathy”
Rash on palms and soles
1) Coxsackie
2) Secondary syphilis
3) Rocky Mountain spotted fever
Red current jelly stools in an adult
Acute mesenteric ischemia
Red urine in morning, fragile RBCs
Proxysmal nocturnal hemoglobinuria
VHL
1) Renal cell carcinoma (bilateral)
2) Hemangioblastomas
3) Angiomatosis
4) Pheochromocytoma
Retinal hemorrhage with pale center
Roth’s spots -> bacterial endocarditis
Severe jaundice in neonate
Crigler-Najjar (unconjugated)
Short stature, increased incidence of tumors/ leukemia, aplastic anemia
Fanconi’s anemia -> genetic loss of DNA crosslink repair, often progresses to AML
Slow, progressive muscle weakness in boys
Becker’s muscle dystrophy -> X-linked missense mutation in dystrophin
Small, irregular red spots on buccal/lingual mucosa with blue/white centers
Koplik spots -> measles/ rubeola virus
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
Strawberry tongue
1) Scarlet fever
2) Kawasaki’s disease
3) Toxic shock syndrome
Swollen, hard, painful finger joints
Osteoarthritis
Systolic ejection murmurs (crescendo-decresendo)
Aortic stenosis
Unilateral dropping involving the forehead
Facial nerve (LMN) palsy
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s disease (tropheryma whipplei)
