| Literature DB >> 28764307 |
Soumyabrata Sarkar1, Rupam Sinha2, Amitabha Chakraborty3, Tanya Khaitan4, Biyas Bhowmik5.
Abstract
Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor deficiency, loss of developmental milestones, seizures, and pyramidal signs. Clinical and magnetic resonance image findings usually establish diagnosis of AD. Here, we present a case of Infantile AD with characteristic clinical and radiological features.Entities:
Keywords: Leukodystrophy; Magnetic resonance imaging; Seizures
Year: 2017 PMID: 28764307 PMCID: PMC5535494 DOI: 10.7860/JCDR/2017/26875.10106
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X