Epilepsy in Menkes disease: analysis of clinical stages.
OBJECTIVE
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.
Bahi-Buisson
Nadia
N
Service de Maladies métaboliques et Neurologie Pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris cedex 15, France. nadia.bahi-buisson@nck.ap-hop-paris.fr
Kaminska
Anna
A
Nabbout
Rima
R
Barnerias
Christine
C
Desguerre
Isabelle
I
De Lonlay
Pascale
P
Mayer
Michele
M
Plouin
Perrine
P
Dulac
Olivier
O
Chiron
Catherine
C
D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D002423:Cause of Death; D002540:Cerebral Cortex / Q000503:physiopathology; D015897:Comorbidity; D018450:Disease Progression; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D012189:Retrospective Studies; D013036:Spasms, Infantile / Q000175:diagnosis / Q000453:epidemiology; D016019:Survival Analysis; D014057:Tomography, X-Ray Computed