Canavan disease

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Spongy degeneration of the brain; Aspartoacylase deficiency

• 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 (backflow of food material into the nose)
• Swallowing difficulties
• Reflux with vomiting
• Increasing head size (macrocephaly)
• Head lag (lack of head control when baby is pulled from lying to sitting position)
• Failure to meet milestones
• Seizures
• Severe mental retardation
• Blindness

• Hyperreflexia (reflexes are exaggerated)
• Joint stiffness
• Optic atrophy (wasting away)

• Head CT showing degeneration of white matter (leukodystrophy)
• Head MRI scan showing degeneration of white matter (leukodystrophy)
• Urine chemistry , increased N-acetylaspartic acid
• CSF chemistry , increased N-acetylaspartic acid
• Blood chemistry, increased N-acetylaspartic acid
• Genetic testing for aspartoacylase gene mutations

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.