Clinical Presentations Flashcards
Achilles tendon xanthoma
Familial hypercholesterolemia (decreases LDL receptor signaling)
Adrenal hemorrhage, HoTN, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
+ Anterior drawer sign
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to EPO injection
Back pain, fever, night sweats, wt loss
Pott’s disease (vertebral TB)
B/l Hilar LAD, hypercalcemia, hypercalcuria, elevated ACE levels, non-caseating granulomas
Sarcoidosis
Blue Sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthiritis
Paget disease of the bone (increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash & Raynauds 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 puberty, 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 a. occlusion
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, 1-2 Wks 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 infectiosum/fifth disease: Parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington Disease (autosomal dominant, CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobulinuria
McArdle disease (m. glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
INO (internuclear opthalmoplegia): damage to MLF, b/l MS, u/l stroke
Continuous “machine-like” Heart murmur
PDA (close with indomethacin, open or maintain with misoprostol)
Cutaneous/dermal edema due to CT deposition
Myxedema (caused by HYPOthyroidism, Grave’s Disease»_space; pretibial)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations (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 syndrome (autoimmune destruction of endocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen deficit)
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Erythroderma, LAD, HSM, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides and malignant T cells in blood)
Facial m. spasm upon tapping
Chvostek sign (HYPOcalcemia)
Fat, female, forty, fertile
Cholelithiasis
Fever, chills, HA, myalgia following antibiotic tx for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, wt loss
B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis
Peyronie disease (CT disorder)
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Green-yellow rings around periphreal cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased CA risk, mainly GI)
HSM, osteoporosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (b/l amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia, reid index
“Blue Bloater” Chronic bronchitis, hyperplasia of mucus cells
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphillis, Treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)
Infants with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis apalasia
Patau syndrome (trisomy 13)
Infant with failure to thrive, HSN, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (more severe G6P deficiency)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart disease
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease; Borrelia)
Lucid interval after TBI
Epidural hematoma (MMA rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck vv., HoTN,
Becks Triad»_space; Cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (Lysosomal a-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk brachial plexus injury, C5-6, “waiter tip)
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
