Clinical Guidance

Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (~85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%) . In typical Canavan disease, neurodevelopmental impairment becomes evident by ages three to five months and is followed by neurodegeneration and developmental regression. In atypical Canavan disease, neurodevelopmental delay usually becomes evident in the first years of life, frequently followed by developmental regression later in childhood or adolescence; however, the clinical course is more variable than in typical Canavan disease.

Diagnostic Criteria

No consensus clinical diagnostic criteria for Canavan disease have been published.

Suggestive Findings

Canavan disease should be suspected in a proband with the following clinical and imaging findings and family history.

Typical Canavan Disease

Clinical findings

• The triad of hypotonia, head lag, and macrocephaly after age three to five months

Management Guidelines

No clinical practice guidelines for Canavan disease have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Canavan disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Canavan Disease: Recommended Surveillance