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Epileptic phenotypes in children with respiratory chain disorders
Author(s) -
El Sabbagh Sandra,
Lebre AnneSophie,
BahiBuisson Nadia,
Delonlay Pascale,
Soufflet Christine,
Boddaert Nathalie,
Rio Marlène,
Rötig Agnès,
Dulac Olivier,
Munnich Arnold,
Desguerre Isabelle
Publication year - 2010
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2009.02504.x
Subject(s) - epilepsy , status epilepticus , epilepsia partialis continua , myoclonic epilepsy , pediatrics , medicine , respiratory chain , encephalopathy , mitochondrial disease , myoclonic jerk , abnormality , psychiatry , mitochondrial dna , biology , biochemistry , gene , enzyme
Summary 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.