title: 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.
authors.affiliation: Senior Research Officer, Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College , New Delhi, India .
authors.forename: Manisha
authors.initials: M
authors.lastname: Goyal
authors.affiliation: Junior Specialist, Department of Pediatrics, Maulana Azad Medical College , New Delhi, India .
authors.forename: Sumit
authors.initials: S
authors.lastname: Mehndiratta
authors.affiliation: Scientist, Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, (IGIB-CSIR) , Mall Road, Delhi, India .
authors.forename: Mohammed
authors.initials: M
authors.lastname: Faruq
authors.affiliation: Project Fellow, Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology , (IGIB-CSIR), Mall Road, Delhi, India .
authors.forename: Manish Kumar
authors.initials: MK
authors.lastname: Dwivedi
authors.affiliation: Professor, Department of Pediatrics, Division of Genetics and Metabolism, Department Of Pediatrics, Maulana Azad Medical College , New Delhi, India .
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
keywords: Leukodystrophy; Macrocephaly; Psychomotor regression