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)