Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of
N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable
seizures and
visual impairment. A 14-month-old female infant with a complaint of the absence of neck holding and
generalized tonic-clonic seizures was referred to our hospital.
Macrocephaly, setting sun eyes,
tremor, and
hypotonia were observed. Funduscopy showed
optic atrophy. Our patient's flash visual evoked potential showed
blindness. Her brain magnetic resonance imaging showed diffuse white matter in subcortical, basal ganglia, and dorsal pons. Electroencephalography showed diffuse slow and sharp waves. The genetic study detected a hemizygous mutation in the
aspartoacylase gene. Our patient was diagnosed with
Canavan disease and began
anticonvulsant treatment. However,
seizures were not under control. Then, her medications were discontinued, and
clobazam and
primidone were administered. In conclusion, starting
clobazam and
primidone may help prevent frequently intractable
seizures in
Canavan disease patients.