Canavan disease
Alternate Names : Spongy degeneration of the brain, Aspartoacylase deficiency
Symptoms & Signs
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
Diagnosis & Tests
- Exaggerated reflexes (hyperreflexia)
- Joint stiffness
- Loss of tissue in the optic nerve of the eye (optic atrophy)
Tests:
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