Presentation of a 2.5-years-old boy with Canavan disease

Canavan disease is an autosomal recessive leukodystrophy due to accumulation of N-acetyl aspartic acid (NAA) in brain، cerebrospinal fluid (CSF)، and urine characterized by early onset developmental delay، initial hypotonia progressing to hypertonia، sleep disturbance and macrocephaly. Brain magnetic resonance imaging (MRI) shows white-matter changes. The best method for diagnosis is determined NAA in the urine. We report a 30-month-old boy manifesting his symptoms when he was 6 months old. Brain MRI showed high signal intensity in T2 images. High-performance liquid chromatography (HPLC) and electroencephalography (EEG) were normal. His symptoms were generalized tonic-clonic seizures at the age of 22 months and spasticity، hypotonia، macrocephaly، joint stiffness، and sleep disturbance at the age of 30 months. The patient was diagnosed by assessing NAA level in urine.