Alberto Verrotti1, Raffaella Cusmai2, Francesca Darra3, Paola Martelli4, Patrizia Accorsi4, Silvia Bergamo5, Elsa Bevivino2, Giangennaro Coppola6, Elena Freri7, Salvatore Grosso8, Sara Matricardi7, Pasquale Parisi9, Stefano Sartori5, Alberto Spalice10, Nicola Specchio2, Alessia Carelli11, Daniela Zini3, Bernardo Dalla Bernardina3, Lucio Giordano4. 1. Department of Pediatrics, University of Perugia, Italy. Electronic address: averrott@unich.it. 2. Division of Neurology, Metabolic Unit "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy. 3. Child Neuropsychiatry, University of Verona, Verona, Italy. 4. Child Neuropsychiatry, Regional Epilepsy Center, Brescia, Italy. 5. Pediatric Neurology Unit, Department of Women's and Children's Health, University and City Hospital of Padua, Italy. 6. Child and Adolescent Neuropsychiatry, Faculty of Medicine and Surgery, University of Salerno, Italy. 7. Department of Pediatric Neuroscience, Carlo Besta Neurological Institute, Milan, Italy. 8. Pediatric Neurology-Immunology and Endocrinology Unit, Department of Pediatrics, University of Siena, Siena, Italy. 9. Child Neurology, Chair of Pediatrics, II Faculty of Medicine, "La Sapienza" University, Rome, Italy. 10. Department of Pediatrics, University of Rome "La Sapienza", Rome, Italy. 11. Department of Pediatrics, University of Perugia, Italy.
Abstract
BACKGROUND: Epilepsy is a frequent and severe feature of Menkes disease (MD) but only few studies 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 analyzed at the onset of epilepsy and after long-term follow-up (at least 4 years). We subdivided the patients into two groups: Group 1, 16 patients who received a subcutaneous copper-histidine treatment, 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. Therapy with various antiepileptic drugs had poor efficacy, except in three patients who showed seizure disappearance with consequent discontinuation of antiepileptic therapy. There was no difference of neurological outcome among the two groups analyzed. CONCLUSIONS: Epilepsy in MD is a difficult to treat problem. At the onset, the most frequent type of seizures are FC and IS; in the next months, other kinds of seizures can appear. Many children are drug resistant. Institution of replacement therapy with copper-histidine seems to be not beneficial for epilepsy.
BACKGROUND:Epilepsy is a frequent and severe feature of Menkes disease (MD) but only few studies 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 analyzed at the onset of epilepsy and after long-term follow-up (at least 4 years). We subdivided the patients into two groups: Group 1, 16 patients who received a subcutaneous copper-histidine treatment, 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. Therapy with various antiepileptic drugs had poor efficacy, except in three patients who showed seizure disappearance with consequent discontinuation of antiepileptic therapy. There was no difference of neurological outcome among the two groups analyzed. CONCLUSIONS:Epilepsy in MD is a difficult to treat problem. At the onset, the most frequent type of seizures are FC and IS; in the next months, other kinds of seizures can appear. Many children are drug resistant. Institution of replacement therapy with copper-histidine seems to be not beneficial for epilepsy.
Authors: Małgorzata Lenartowicz; Wojciech Krzeptowski; Paweł Lipiński; Paweł Grzmil; Rafał Starzyński; Olga Pierzchała; Lisbeth Birk Møller Journal: Front Mol Neurosci Date: 2015-12-18 Impact factor: 5.639