Epilepsy in menkes disease. an electroclinical long-term study of 28 patients

Background: Epilepsy is a frequent and severe feature of Menkes disease (MD) but only fewstudies described the long-term evolution of these children. We report a series of 28 epileptic MD patients, with clinical characteristics, EEG abnormalities, brain malformations and long-term outcome. Methods: EEG, clinical characteristics and neuroimaging features in 28 MD patients were analyzedat the onset of epilepsy and after long-term follow-up (at least 4 years). We subdivided thepatients into two groups: Group 1, 16 patients who received a subcutaneous copper—histidinetreatment, and Group 2 including 12 patients who did not get any therapies.Results: The large majority of our patients presented at the onset of epilepsy focal seizures (FS)and infantile spasms (IS). Five patients had recurrent status epilepticus (SE). During the follow-up, patients showed multiple seizure types: 6 patients had generalized tonic clonic seizures(GCT), 6 patients presented IS, 10 children had FS, 11 had myoclonic jerks and 3 had SE. Therapywith various antiepileptic drugs had poor efficacy, except in three patients who showed seizuredisappearance with consequent discontinuation of antiepileptic therapy. There was no differenceof neurological outcome among the two groups analyzed. Conclusions: Epilepsy in MD is a difficult to treat problem. At the onset, the most frequent typeof seizures are FC and IS; in the next months, other kinds of seizures can appear. Many childrenare drug resistant. Institution of replacement therapy with copper—histidine seems to be not beneficial for epilepsy