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A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus
Author(s) -
Il Han Yoo,
Won Gi Hong,
Hunmin Kim,
Byung Chan Lim,
Hee Hwang,
JongHee Chae,
Ki Joong Kim,
Yong Seung Hwang
Publication year - 2013
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
ISSN - 2383-8442
DOI - 10.5734/jgm.2013.10.2.113
Subject(s) - medicine , hydrocephalus , magnetic resonance imaging , lesion , disease , pediatrics , obstructive hydrocephalus , leukodystrophy , pathology , surgery , radiology
retardation, and bulbar/pseudobulbar signs. The recent study showed that these clinical symptoms and signs may vary according to age at onset and GFAP mutation site. This study by Prust et al. includes a review of 218 cases, includ ing 30 new cases of Alexander disease, with evidence suggesting that early age of onset (often before 4 years) is frequently asso ciated with seizures, macrocephaly, encephalopathy, paroxysmal deterioration, or failure to thrive. However, only a few studies emphasizes in distinguishing a neonatal form of Alexander disease from early onset type where specific clinical symptoms exhibit during neonatal period. The neonatal form can be distinguished from others by frequent intractable seizures in A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus

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