Document Detail

Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy.
MedLine Citation:
PMID:  9880148     Owner:  NLM     Status:  MEDLINE    
Trichothiodystrophy was diagnosed in a 3-year-old male presenting with speech delay, brittle hair, chronic neutropenia, and a history of febrile convulsions. Cranial magnetic resonance imaging revealed a focal subcortical and periventricular gray matter heterotopia. An acute encephalopathy with status epilepticus and coma occurred when he was 4 years of age during an upper respiratory tract infection. Magnetic resonance imaging revealed multifocal T2-weighted hypersignal lesions involving mainly the thalami, hippocampi, midbrain, and pons. Analysis of cerebrospinal fluid revealed hyperproteinorachia without pleocytosis. Results of an extensive metabolic evaluation of this acute brain injury, resembling the syndrome of acute necrotizing encephalopathy of childhood described in Japan, were negative. Focal neuronal migration disorder and acute encephalopathy with symmetric thalamic involvement are newly described neurologic manifestations of syndromes with trichothiodystrophy, which suggests that these conditions may have a common genetic background.
C L Wetzburger; N Van Regemorter; H B Szliwowski; M J Abramowicz; P Van Bogaert
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  19     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1999-06-08     Completed Date:  1999-06-08     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  392-4     Citation Subset:  IM    
Department of Pediatric Neurology, Université Libre de Bruxelles, Hôpital Erasme, Belgium.
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MeSH Terms
Abnormalities, Multiple / diagnosis*
Brain Diseases / diagnosis*
Child, Preschool
Choristoma / diagnosis*
Frontal Lobe*
Hair / abnormalities*
Magnetic Resonance Imaging

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