Document Detail

Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood-a case report and review of the literature.
MedLine Citation:
PMID:  24938145     Owner:  NLM     Status:  In-Data-Review    
BACKGROUND: Vanishing white matter disease is caused by mutations of the eukaryotic translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid, neurological, and poor prognosis, with death in few months or years. In contrast, onset in late childhood and adult onset is rare and is associated with long-term survival because of milder signs and slow progression.
PATIENT DESCRIPTION: We present a patient with a genetically proven vanishing white matter disease, typical brain MRI, presenting with opsoclonus myoclonus in early childhood and a delayed development of adult multifocal dystonia and schizoaffective disorder with continued survival. In addition we have also reviewed the relevant literature based on 42 previous articles summarizing clinical details of 318 individuals with vanishing white matter disease (single case reports to case series). In 283, genetic mutation of EIF2B was confirmed with the onset of vanishing white matter disease reported as antenatal (seven), infantile (eight), early childhood (107), between infantile and early childhood (20), late childhood (25), between early and late childhood (three), adult (68), and between late childhood and adult (21).
CONCLUSIONS: Various movement disorders have been described with vanishing white matter disease either at presentation (mimicking an opsoclonus myoclonus syndrome) or in adulthood (dystonia and myoclonus) with continuing survival. Relatively preserved cognition is a novel presentation and is reported in this article along with a comprehensive literature review.
Lisa Klingelhoefer; Anjum Misbahuddin; Tania Jawad; John Mellers; Jozef Jarosz; Robert Weeks; Kallol Ray Chaudhuri
Related Documents :
19727735 - Rheumatoid-like deformities in parkinson's disease with 1-year follow-up: case report a...
18828465 - The influence of dr. john adriani on the american board of anesthesiology oral examinat...
12373355 - Candida arthritis in a patient with chronic myelogenous leukemia (cml) in blastic trans...
2960635 - Chorea induced by the use of oral contraceptives. report of a case and review of the li...
11747065 - The system of belief inventory (sbi-15): a validation study in israel.
15789795 - Bilateral ureteral obstruction after appendicectomy.
Publication Detail:
Type:  Journal Article     Date:  2014-03-15
Journal Detail:
Title:  Pediatric neurology     Volume:  51     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-06-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  157-64     Citation Subset:  IM    
Copyright Information:
Copyright © 2014 Elsevier Inc. All rights reserved.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

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

Previous Document:  Use of ketamine in a newborn with refractory status epilepticus: a case report.
Next Document:  Clinical and Molecular Analysis of a Novel COLQ Missense Mutation Causing Congenital Myasthenic Synd...