classical presentations 1 Flashcards
abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome
posthepatic venous thrombosis
achilles tendon xanthoma
familial hypercholesterolemia
decreased LDL-r signaling
adrenal hemorrhage, hypotension, DIC
waterhouse-freiderichsen syndrome (meningococcemia)
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrillin defect)
athlete w/ polycythemia
2’ to erythropoietin injection
back pain, fever, night sweats, weight loss
Pott’s disease (vertebral TB)
Bilateral hilar adenopathy, uveitis
sarcoidosis (noncaseating granulomas)
blue sclera
osteogenesis imperfecta (type I collagen defect)
bluish line on gingiva
Burton’s line (lead poisoning)
bone pain, bone enlargement, arthritis
Paget’s disease of bone
increase osteoblastic & osteoclastic activity
bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
systemic lupus erythematosus
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I
+ pheochromocytoma, optic gliomas
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome
mosaic G-protein signaling mutation
Calf pseudohypertrophy
muscular dystrophy (most commonly Duchenne's): XLR deletion of dystrophin
“Cherry-red spot” on macula
Tay-Sachs (ganglioside accumulation)
or
Niemann-Pick (sphingomyelin accumulation),
central retinal artery occlusion
Chest pain on exertion
Angina
stable: w/ moderate exertion
unstable: w/ minimal exertion
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome
AI-mediated post-MI fibrinous pericarditis, 1-12wks after acute episode
child uses arms to stand up from squat
Gower’s sign
Duchenne muscular dystrophy
Child w/ fever later develops red rash on face that spreads to body
“Slapped cheeks”
erythema infectiosum/5th disease: parvo B19
chorea, dementia, caudate degeneration
Huntington’s disease
autosomal-dominant CAG repeat expansion
Chronic exercise intolerance w/ myalgia, fatigue, painful, cramps, myoglobinuria
McArdle’s disease
muscle glycogen phosphorylase deficiency
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia
damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]
continuous “machinery” heart murmur
PDA
close w/ indomethacin;
open or maintain w/ misoprostol
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
caused by hypothyroidism,
Graves’ disease=> pretibial myxedema
dark purple skin/mouth nodules
Kaposi’s sarcoma
usually AIDS patients [MSM]: assoc w/ HHV-8
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
dermatitis, dementia, diarrhea
Pellagra
niacin [vit B3] deficiency
dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vit B1] deficiency)
dog or cat bite resulting in infection
Pasteurella multocida
cellulitis at inoculation site
Dry eyes, dry mouth, arthritis
Sjogren’s syndrome
AI destruction of exocrine glands
dysphagia (esophageal webs), glossitis, iron deficiency, anemia
Plummer-Vinson syndrome
may progress to squamous cell CA
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome
type III collagen defect
Enlarged, hard left supraclavicular node
Virchow’s node
abdominal metastasis
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T cell lymphoma)
or
mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign
hypocalcemia
fat, female, forty, fertile
cholelithiasis
gallstones
fever, chills, headache, myalgia following antibiotic Tx for syphilis
Jarisch-Herxheimer rxn
rapid lysis of spirochetes results in toxin release
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
morbillivirus
fever, night sweats, weight loss
B symptoms (staging) of lymphoma
fibrous plaques in soft tissue of penis
Peyronie’s disease
connective tissue disorder
Gout, mental retardation, self mutilating behavior in a boy
Lesch-Nyhan syndrome
XLR: HGPRT deficiency
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings
copper accumulation from Wilson’s disease
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
inherited, benign polyposis can cause bowel obstruction; increases cancer risk, mainly GI
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease
glucocerebrosidase deficiency
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
mutation in alpha chain of collagen IV
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
bilateral amygdala lesion
hyperreflexia, hypertonia, Babinski sign present
UMN damage
hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
hypoxemia, polycythemia, hypercapnia
“Blue bloater”
chronic bronchitis: hyperplasia of mucous cells
indurated, ulcerated genital lesion
nonpainful: chancre (1’ syphilis, Treponema pallidum)
painful, w/ exudate: chancroid (Haemophilus decreyi)
infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome
trisomy 13
