Classic Presentations - Clinical Presentation//Diagnosis/Disease

Question 1

Abdominal pain, ascites, hepatomegaly

Answer 1

Budd-Chiari syndrome (post-hepatic venus thrombosis)

Question 2

Achilles tendon xanthoma

Answer 2

Familial hypercholesterolemia (dec. LDL receptor signalling)

Question 3

Cold intolerance

Answer 3

Hypothyroidism

Question 4

Conjugate lateral gaze palsy, horizontal diplopia

Answer 4

Internuclear opthalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke])

Question 5

Chorea, dementia, caudate degeneration

Answer 5

Huntington disease (autosomal dominant CAG repeat expansion)

Question 6

“Butterfly” facial rash and Raynaud phenomenon in a young female

Answer 6

Systemic lupus erythmatosus

Question 7

Blue sclera

Answer 7

Osteogenesis imperfecta (type I collagen defect)

Question 8

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Answer 8

Kluver-Bucy syndrome (bilateral amygdala lesion)

Question 9

Hyperreflexia, hypertonia, Babinski sign present

Answer 9

UMN damage

Question 10

Hyporeflexia, hypotonia, atrophy, fasciculations

Answer 10

LMN damage

Question 11

Dry eyes, dry mouth, arthritis

Answer 11

Sjogren syndrome (autoimmune destruction of exocrine glands)

Question 12

Dark purple skin/mouth nodules in a patient with AIDS

Answer 12

Kaposi sarcoma, associated with HHV-8

Question 13

Resting tremor, rigidity, akinesia, postural instability

Answer 13

Parkinson disease (nigrostriatal dopamine depletion)

Question 14

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Answer 14

Koplik spots (measles; rubeola virus)

Question 15

Systolic ejection murmur (crescendo-decrescendo)

Answer 15

Aortic valve stenosis

Question 16

“Worst headache of my life”

Answer 16

Subarachnoid hemorrhage

Question 17

Toe extension/fanning upon plantar scrape

Answer 17

Babinski sign (UMN lesion)

Question 18

Unilateral facial drooping involving forehead

Answer 18

Facial nerve (LMN CN VII palsy)

Question 19

Red “currant jelly” sputum in alcoholic or diabetic patients

Answer 19

Klebsiella pneumoniae

Question 20

Ptosis, miosis, anhydrosis

Answer 20

Horner syndrome (sympathetic chain lesion)

Question 21

Pupils accommodate but don’t react to light

Answer 21

Argyll Robertson pupil (neurosyphilis)

Question 22

Rapidly progressive leg weakness that ascends, following GI/upper respiratory infection

Answer 22

Guillan-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Question 23

Rash on palms and soles

Answer 23

Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever

Question 24

Recurrent colds, unusual eczema, high serum IgE

Answer 24

Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

Question 25

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Answer 25

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Question 26

Elastic skin, hypermobility of joints

Answer 26

Ehlers-Danlos syndrome (type III collagen defect)