Infantile onset alexander disease with normal head circumference: a genetically proven case report.

ABSTRACT: Alexander disease (AD) is an autosomal dominant leukodystrophy which predominantly affects infants and children. The infantile form comprises the most common form of AD. It presents before two years of age and characterized by macrocephaly, psychomotor regression, spasticity, pyramidal sign, ataxia and seizures. The diagnosis is based on magnetic resonance imaging (MRI) findings and confirmed by Glial fibrillary acidic protein (GFAP) gene molecular testing. We report an Indian case with normal head circumference.

SUBMITTER: Goyal M 

PROVIDER: S-EPMC4290301 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature