Case study presented by Jacob Klapper and Matthew Snyder, page 2

Physical Exam

General

BP: 122/76 mmHg

Pulse: 88

Weight: 37 kg (appeared thin for her age)

Chest: Within Normal Limits

Abdomen: Within Normal Limits

Heart: Within Normal Limits

Neurological

Cranial

Pupils: Equal, round, and reactive to light and accommodation.

Eye Movement: difficulty with smooth, lateral saccades, overshoot and nystagmus on rapid movement.

Facial Movement: symmetrical and unimpaired.

Hearing: grossly impaired

Vision: grossly impaired

Motor

Reflexes: Within Normal Limits

Muscular: minimal weakness, no atrophy or fasiculations

Coordination: altered with her station and gait, increased blinking, hand movements, dysdiadochokinesia, slurred speech, bradykinesia and mild rigidity.

Gait: abnormal with veering to the right.

No adventitial movement were seen during the initial exam (two years prior).

Laboratory Exam

Ceruloplasmin: Normal

CBC: Normal and – for acanthocytes

ESR: Normal

Vitamin B12: Normal

Folate: Normal

ASO titer: Elevated (1:800)

All other labs: Within Normal Limits

Radiological Exam:

MRI: mild bilateral caudate atrophy (but Within Normal Limits, frontal horns appeared prominent bilaterally)

wpe1.jpg (24958 bytes)

 

Genetic/Molecular Testing:

wpe1.jpg (15433 bytes)

 

 

What structures is/are/were damage(d)?

Is this a hypo- or hyperkinesthetic disorder?

Which pathway is affected in the BG?

Why is chorea not present?

What causes the deterioration in the mental state?

What causes the "overshoot" nystagmus?

Can you explain the age of onset?

Why the elevated ASO titer??

What is the disease?

What treatment(s) are available to this patient?

 

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