Document Detail


Alexander's disease: reassessment of a neonatal form.
MedLine Citation:
PMID:  22890470     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
INTRODUCTION: Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a juvenile, and an adult form. However, onset early in infancy or in the prenatal period has been shown to present with a uniform pattern of symptoms-suggesting the presence of a distinct neonatal form of the disease.
RESULTS AND DISCUSSION: Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the disease in neonates has been observed, suggesting the need for a different course of identification and treatment. Clinical presentation of the neonatal form is distinguished by leukodystrophy and generalized, frequent, and intractable seizures. While the infantile form presents with ataxia, hyperreflexia, and other upper motor neuron symptoms, none of these has been observed in the neonatal form. In the diagnosis of neonatal Alexander disease, it is essential to rule out other causes of leukodystrophy and the presence of neoplasms.
Authors:
Navneet Singh; Catherine Bixby; Denzil Etienne; R Shane Tubbs; Marios Loukas
Publication Detail:
Type:  Journal Article; Review     Date:  2012-08-14
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  28     ISSN:  1433-0350     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-16     Completed Date:  2013-04-23     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  2029-31     Citation Subset:  IM    
Affiliation:
Department of Anatomical Sciences, School of Medicine, St George's University, West Indies, Grenada.
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MeSH Terms
Descriptor/Qualifier:
Alexander Disease / classification,  diagnosis,  genetics,  therapy*
Diagnosis, Differential
Glial Fibrillary Acidic Protein / genetics,  metabolism
Humans
Infant, Newborn
Magnetic Resonance Imaging
Neoplasms / diagnosis
Neuroimaging
Chemical
Reg. No./Substance:
0/Glial Fibrillary Acidic Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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