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- Title
Epilepsy in Children With Menkes Disease: A Systematic Review of Literature.
- Authors
Verrotti, Alberto; Carelli, Alessia; Coppola, Giangennaro
- Abstract
Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar “kinky hair.” Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. The history of epilepsy is usually characterized by 3 stages: an early stage with focal clonic seizures and status epilepticus, an intermediate stage with infantile spasms, and a late stage with multifocal, myoclonic, and tonic seizures. At the onset, epilepsy can be controlled with anticonvulsant therapy, whereas with the progression of disease, it becomes extremely resistant to all antiepileptic drugs. In this article, we analyze clinical and electroencephalographic (EEG) characteristics of epilepsy in patients with this syndrome.
- Subjects
CHILDHOOD epilepsy; PEDIATRIC neurology research; KINKY hair syndrome; HAIR manifestations of general diseases; INBORN errors of metabolism
- Publication
Journal of Child Neurology, 2014, Vol 29, Issue 12, p1757
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073814541469