Symptoms:

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)
• Blindness
• Feeding problems
• Increasing head size (macrocephaly)
• Lack of head control when baby is pulled from lying to sitting position (head lag)
• Poor muscle tone, especially of the neck muscles
• Reflux with vomiting
• Seizures
• Severe mental retardation
• Swallowing difficulties

Signs and tests:

• 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