Canavan disease

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Spongy degeneration of the brain; Aspartoacylase deficiency

Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.

Symptoms include:

• Abnormal posture with flexed arms and straight legs
• Backflow of food material into the nose (nasal regurgitation)
• Feeding problems
• Increasing head size (macrocephaly)
• Irritability
• Lack of head control when baby is pulled from a lying to a sitting position (head lag)
• Poor muscle tone , especially of the neck muscles
• Poor visual tracking or blindness
• Reflux with vomiting
• Seizures
• Severe mental retardation
• Swallowing difficulties

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• Exaggerated reflexes (hyperreflexia)
• Joint stiffness
• Loss of tissue in the optic nerve of the eye (optic atrophy)

Tests:

• Blood chemistry
• CSF chemistry
• Genetic testing for aspartoacylase gene mutations
• Head CT scan
• Head MRI scan
• Urine chemistry

Review Date: 11/10/2010
Reviewed By: A.D.A.M. Editorial: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).

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