Canavan disease

• 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

• Hyperreflexive
• Joint stiffness
• Optic atrophy

• 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

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