Open AccessInfantile Alexander Disease: Case Report and Review of Literature
Author(s) -
Subhendu Sarkar,
Rupam Sinha,
Amitabha Chakraborty,
Tanya Khaitan,
Biyas Bhowmik
Publication year - 2017
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2017/26875.10106
Subject(s) - leukodystrophy , pediatrics , disease , psychomotor learning , medicine , magnetic resonance imaging , pathology , psychiatry , radiology , cognition
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.