Document Detail

Epilepsy in Menkes disease: analysis of clinical stages.
MedLine Citation:
PMID:  16499764     Owner:  NLM     Status:  MEDLINE    
PURPOSE: Epilepsy is one of the main features of Menkes disease (MD), although it is not described in depth. To determine the spectrum of epilepsy, we studied its main characteristics. METHODS: Based on clinical charts, we retrospectively analyzed the evolution of electroclinical features of 12 patients with confirmed MD. RESULTS: Epilepsy could be divided into three periods: (a) an early stage (median age, 3 months), characterized by focal clonic status epilepticus, usually triggered by fever (10 patients). Ictal EEG showed runs of slow spike-waves and slow waves in the posterior regions, and interictal EEG multifocal and polymorphic slow waves (three cases), or mixed slow spike-waves and slow waves (seven cases). Partial seizure control was obtained in nine patients during 5.9 months; (b) an intermediate stage (median age, 10 months) with intractable infantile spasms (11 patients) in which interictal EEG demonstrated modified hypsarrhythmia (seven cases), diffuse irregular slow waves and spike-waves (four cases). Six patients died at the median age of 15 months; and (c) a late stage in the six remaining patients (median age, 25 months), with multifocal seizures, tonic spasms, and myoclonus in four patients, whereas two patients became seizure free. Interictal EEG showed multifocal high-amplitude activity, mixed with irregular slow waves in all six cases. These patients died at the median age of 3.6 years. CONCLUSIONS: Based on a relatively large series of MD patients with a quite prolonged survival, we individualized three successive periods in the course of epilepsy: early focal status, then infantile spasms, and then myoclonic and multifocal epilepsy after age 2 years.
Nadia Bahi-Buisson; Anna Kaminska; Rima Nabbout; Christine Barnerias; Isabelle Desguerre; Pascale De Lonlay; Michele Mayer; Perrine Plouin; Olivier Dulac; Catherine Chiron
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Epilepsia     Volume:  47     ISSN:  0013-9580     ISO Abbreviation:  Epilepsia     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-02-27     Completed Date:  2006-05-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2983306R     Medline TA:  Epilepsia     Country:  United States    
Other Details:
Languages:  eng     Pagination:  380-6     Citation Subset:  IM    
Service de Maladies métaboliques et Neurologie Pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris cedex 15, France.
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MeSH Terms
Age Factors
Age of Onset
Cause of Death
Cerebral Cortex / physiopathology
Disease Progression
Electroencephalography / statistics & numerical data
Epilepsy / diagnosis*,  epidemiology,  physiopathology
Magnetic Resonance Imaging
Menkes Kinky Hair Syndrome / diagnosis*,  epidemiology,  physiopathology
Retrospective Studies
Spasms, Infantile / diagnosis,  epidemiology
Survival Analysis
Tomography, X-Ray Computed

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