Document Detail

Epileptic phenotypes in children with respiratory chain disorders.
MedLine Citation:
PMID:  20196775     Owner:  NLM     Status:  MEDLINE    
PURPOSE: Epilepsy is a commonly reported but rarely described clinical hallmark of mitochondrial respiratory chain defects (RCDs) with encephalopathy. METHODS: From 1990-2006 we collected data about 56 children with RCD (single, n = 24 or multiple, n = 20 mitochondrial complex deficiencies; mtDNA mutation, n = 11; mtDNA depletion n = 10 of 21; and nuclear gene mutation n = 11). Epileptic features were reviewed retrospectively. RESULTS: First seizures were frequently (47 patients, 82.5%) preceded by failure to thrive, psychomotor delay, ataxia, or multisystemic dysfunction. Sixty percent of the patients had several seizure types. Six age-related epilepsy phenotypes could be identified: status epilepticus complicating neonatal multivisceral deficiency (2 patients), neonatal myoclonic encephalopathy (3 patients), infantile spasms (8 patients), refractory or recurrent status epilepticus (21 patients), epilepsia partialis continua (4 patients), and myoclonic epilepsy (18 patients). Except for infantile spasms, epilepsy was difficult to control in most patients (95%). Valproate was administered to 25 patients, one of whom developed acute liver failure 6 days later. Twenty-two patients (45%) died, half of them within 9 months from the onset of epilepsy. DISCUSSION: In RCD, epilepsy is not only difficult to control but its occurrence often indicates a severe turn in the course of the disease. For one-third of the patients, classical biochemical measures failed to reveal any abnormality and RCD could be detected in the liver only.
Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale Delonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
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Publication Detail:
Type:  Comparative Study; Journal Article     Date:  2010-02-19
Journal Detail:
Title:  Epilepsia     Volume:  51     ISSN:  1528-1167     ISO Abbreviation:  Epilepsia     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-19     Completed Date:  2010-08-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2983306R     Medline TA:  Epilepsia     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1225-35     Citation Subset:  IM    
Pediatric Neurology, Hôpital Necker, APHP, Paris, France.
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MeSH Terms
Child, Preschool
Electron Transport / genetics
Epilepsy / complications,  genetics*,  physiopathology*
Infant, Newborn
Mitochondrial Diseases / complications,  genetics*,  physiopathology*
Retrospective Studies

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