Abstract :
Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. It belongs to a group of disorders known as the leukodystrophies. Incidence in Indian population is not known. It affects all ethnic groups, but occurs with greater frequency in individuals of Ashkenazi Jewish descent. We are reporting a case of this rare disorder which got admitted in Dept of Pediatrics NMCH ,Patna. Aspartoacylase deficiency, or Canavan disease, is autosomal recessive disorder characterized by macrocephaly, , developmental delay appearing between 3 to 6 mo of age and severe hypotonia eventually changing to spasticity in advanced stage of the disease [1]. Seizures occur in about 50 % of affected children. Leukodystrophy with involvement of sub-cortical white matter changes are characteristic features on MRI [2]. Elevated levels of N-acetyl aspartate either in urine/ plasma or on Proton Magnetic resonance spectrometry (MRS) of the brain are pathognomonic features [3].The gene coding for the Aspartoacylasenzyme (ASPA) has been mapped to chromosome 17p13-ter and comprises of six exons spread over 29 kilobases [4].
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