학술논문
A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD
Document Type
Article
Author
Source
Egyptian Pediatric Association Gazette; December 2016, Vol. 64 Issue: 4 p171-176, 6p
Subject
Language
ISSN
11106638
Abstract
We report a family with two siblings having features of infantile neuroaxonal dystrophy (INAD), with first degree consanguineous parents. Rapid progressive loss of developing milestones (started from 18months) and early infantile death of both siblings occurred. Brain magnetic resonance imaging (MRI) revealed severe rapidly progressive cerebellar atrophy initially reported as early as 18months, with the younger brother suffered generalized tonic clonic seizures.