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Guess the disease!

Topic: Behavior

Created on Wednesday, February 21 2007 by jdmiles

Last modified on Wednesday, February 21 2007.

GUESS WHAT I'M THINKING!
I'm thinking of a disorder which may be inherited or sporadic. It begins in early infancy with loss of smile, loss of interest in surroundings, episodes of sweating, seizures, and diffuse myoclonic jerks. As it progresses, there follows diffuse spasticity, blindness, delayed growth, and progressive microcephaly. In late stages, the patient is essentially decorticate. The etiology is not yet understood.
What disease am I thinking of?

A) Hemifacial Spasm

B) Zellweger Syndrome

C) Alpers' Disease

D) Dancing Eyes-Dancing Feet Syndrome

E) Alexander Disease

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This question was created on February 21, 2007 by jdmiles.
This question was last modified on February 21, 2007.

ANSWERS AND EXPLANATIONS

A) Hemifacial Spasm

This answer is incorrect.

Hemifacial Spasm is a disorder characterised by painless twitching of the muscles on one side of the face (in 5%, bilateral, but asynchronous when it is). Usually caused by arterial compression of the facial nerve, which results in focal demyelination followed by ephaptic coupling of parallel axons. It can also result from Bell's palsy. Medcial treatments include Carbemazepine, baclofen, gabapentin and botulinum toxin. Surgical decompression of the nerve is a highly successful procedure, with some risks, including monaural deafness. (See References)


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B) Zellweger Syndrome

This answer is incorrect.

Zellweger Syndrome is an autosomal recessive disorder that results in a lack of liver peroxisomes. It results in accumulation of very long chain fatty acids, and is terminal at a few months of age. (See References)


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C) Alpers' Disease

This answer is correct.

Alpers' Disease is a disorder which may be inherited or sporadic. It begins in early infancy with loss of smile, loss of interest in surroundings, episodes of sweating, seizures, and diffuse myoclonic jerks. As it progresses, there follows diffuse spasticity, blindness, delayed growth, and progressive microcephaly. In late stages, the patient is essentially decorticate. The etiology is not yet understood. (See References)


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D) Dancing Eyes-Dancing Feet Syndrome

This answer is incorrect.

Dancing Eyes-Dancing Feet Syndrome is a cerebellar ataxia with polymyoclonus which may be postinfectious. (See References)


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E) Alexander Disease

This answer is incorrect.

Alexander Disease is a rare, congenital disease which does not appear to be inherited. No metabolic cause has been found. Clinical features include seizures, psychomotor retardation, and failure to thrive, followed by progressive macrocephaly. The frontal lobes show white matter degeneration, and pathology shows Rosenthal fibers found near the pia and blood vessels, these are thought to be detritus from glial destruction. (See References)


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References:

1. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York.


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behavior
Guess the disease!
Question ID: 02210701
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/21/2007
Modified: 02/21/2007
Estimated Permutations: 0