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Epileptic phenotypes in children with respiratory chain disorders
Sandra El Sabbagh1, Anne-Sophie Lebre, Nadia Bahi-Buisson
1Pediatric Neurology, Hôpital Necker, APHP, Paris, France. isabelle.desguerre@nck.aphp.fr
Epilepsia
|March 4, 2010
Summary
Epilepsy in children with mitochondrial respiratory chain defects (RCDs) is often difficult to control and indicates a severe disease course. Diagnosis may require liver biopsy when biochemical tests are normal.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Epilepsy is a recognized but under-described feature of mitochondrial respiratory chain defects (RCDs) associated with encephalopathy.
- Mitochondrial disorders can manifest with a wide range of neurological symptoms, including seizures.
Purpose of the Study:
- To describe the clinical characteristics and outcomes of epilepsy in children with RCDs.
- To identify epilepsy phenotypes associated with RCDs.
Main Methods:
- Retrospective review of 56 children diagnosed with RCDs between 1990 and 2006.
- Data collected included etiology of RCD (mtDNA or nuclear gene mutations, depletion), seizure types, and clinical course.
Main Results:
- Epilepsy preceded by developmental issues was observed in 82.5% of patients.
- Six age-related epilepsy phenotypes were identified, with refractory epilepsy being common (95%).
- Mortality was high (45%), with half of deaths occurring within 9 months of epilepsy onset.
Conclusions:
- Epilepsy in RCDs signifies a severe prognosis and is often intractable.
- Diagnosis of RCD may be challenging, with normal biochemical tests in one-third of cases, necessitating liver biopsy.
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