Canavan disease
Alternative Names
Spongy degeneration of the brain; Aspartoacylase deficiencySymptoms
- 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
Exams and Tests
- 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
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