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Canavan disease


Alternative names

Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain .

Causes, incidence, and risk factors

Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population.

A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter.

Typically, symptoms begin in the first year of life with loss of developmental milestones and death before 18 months of age.

Symptoms

  • A family history of Canavan disease
  • Decreased muscle tone (hypotonia), especially of the neck muscles
  • Abnormal posture with flexed arms and straight legs
  • Feeding difficulties
  • Nasal regurgitation
  • Swallowing difficulties
  • Reflux with vomiting
  • Increasing head size ( macrocephaly )
  • Head lag
  • Failure to meet milestones
  • Seizures
  • Severe mental retardation
  • Blindness
  • Death often by 18 months

Signs and tests

  • Hyperreflexive
  • Joint stiffness
  • Optic atrophy
Tests:
  • Head CT showing degeneration of white matter (leukodystrophy)
  • Head MRI scan showing degeneration of white matter (leukodystrophy)
  • Urine chemistry , increased N-acetylaspartic acid (increased secretion)
  • CSF chemistry , increased N-acetylaspartic acid (increased levels)
  • Blood chemistry, increased N-acetylaspartic acid (increased levels)
  • Genetic testing for aspartoacylase gene mutations

Treatment

Treatment aims to ease the symptoms of the disease. There is no specific treatment.

Support Groups

Canavan Foundation, Inc. 877-4-CANAVAN; Canavan Foundation, Inc. 877-4-CANAVAN;

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT
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