Classic Presentations Flashcards
abdominal pain, ascites, hepatomegaly
Budd-Chiarie syndrome (posthepatic venous thrombosis)
achilles tendon xanthoma
Familial hypercholestrolemia (decrease LDL receptor signaling)
adrenal hemorrhage, hypotension, DIC
Wathehous-Friderichsen syndrome (meningococcemia)
Anterior “drawer sign” postive
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperfexible joints
Marfan syndrome (fibrillin defect)
Back pain, fever, night sweats, wt loss
Pott disease (vertebral TB)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue Sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone (incrfease osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic reurgitation
Butterfly facial rash and Raynaud phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious uberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene
Cherry red spots on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occulusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat
Gowers sign (Duchenne muscular dystrophy)
Child with fever later develops red rash on face that spreads to body
Slapped cheeks (erythema infectionsum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (automsomal dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
internuclear opthalmoplegia (damage to MLF;bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machine-like” heart murmur
PDA (close with indomethacin; open or maintain with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
Dark purple skin/mouth nodules in apatient with AIDS
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respiration (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs, glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progess to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, Hard left supraclavicular node
Virchow node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fibrous plaques in soft tissue of penis
Peyronie disease (connect tissue disorder)
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around peripheral cornea
Kayser-fleischer rings (copper accumulation from Wilson disease)
Hamartomatous GI polyp, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; Increase cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)