Clinical Presentations Flashcards by Randi Curtiss

Achilles tendon xanthoma

Familial hypercholesterolemia (decreases LDL receptor signaling)

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Adrenal hemorrhage, HoTN, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

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+ Anterior drawer sign

ACL injury

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Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Marfan syndrome (fibrillin defect)

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Athlete with polycythemia

Secondary to EPO injection

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Back pain, fever, night sweats, wt loss

Pott’s disease (vertebral TB)

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B/l Hilar LAD, hypercalcemia, hypercalcuria, elevated ACE levels, non-caseating granulomas

Sarcoidosis

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Blue Sclera

Osteogenesis imperfecta (type I collagen defect)

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Bluish line on gingiva

Burton line (lead poisoning)

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Bone pain, bone enlargement, arthiritis

Paget disease of the bone (increased osteoblastic and osteoclastic activity)

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Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

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“Butterfly” facial rash & Raynauds in a young female

SLE

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Cafe-au-lait spots, Lisch nodules (iris hamartoma)

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene

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“Cherry-red spots” on macula

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal a. occlusion

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Chest pain on exertion

Angina (stable: with moderate exertion, unstable: with minimal exertion)

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Chest pain, pericardial effusion/friction rub, persistent fever following MI

Dressler syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-2 Wks after acute episode)

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Child uses arms to stand up from squat

Gowers sign (Duchenne Muscular Dystrophy)

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Child with fever later develops red rash on face that spreads to body

“Slapped Cheeks” (erythema infectiosum/fifth disease: Parvovirus B19)

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Chorea, dementia, caudate degeneration

Huntington Disease (autosomal dominant, CAG repeat expansion)

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Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobulinuria

McArdle disease (m. glycogen phosphorylase deficiency)

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Cold intolerance

Hypothyroidism

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Conjugate lateral gaze palsy, horizontal diplopia

INO (internuclear opthalmoplegia): damage to MLF, b/l MS, u/l stroke

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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 >> 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 >> 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)

Clinical Presentations Flashcards

(66 cards)