title: [Neurocutaneous syndromes and epilepsy. Report of 23 cases and review of the literature].
abstract: The neurocutaneous syndromes are characterized by congenital dysplastic abnormalities involving the skin and nervous system. We included in the study 23 children diagnosed with different types of neurocutaneous syndrome (10 patients with tuberous sclerosis, 5 with Sturge-Weber syndrome and 8 with neurofibromatosis type 1 and epilepsy'. The factors studied included: age at onset of seizures, seizure types and frequency, seizure response of treatment, EEG, CT/MRI, neurologic, neuro-ophthalmologic and psychological examination. In 39.13% of cases the epilepsy onset preceded the clinical diagnosis of neurocutaneous disorders. The age of seizure onset ranged from 4 month to 5 years. The most common type of seizure appear to be complex partial. 21.73% of patients associated mental retardation. Therapeutical efficacy was variable depending on type of seizure and type of neurocutaneous syndromes.
authors.affiliation: Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi, Facultatea de Medicină, Clinica a III-a Pediatrie.
authors.forename: Georgeta
authors.initials: G
authors.lastname: Diaconu
authors.forename: Ioana
authors.initials: I
authors.lastname: Grigore
authors.forename: M
authors.initials: M
authors.lastname: Burlea
authors.forename: N
authors.initials: N
authors.lastname: Chirakis
authors.forename: V V
authors.initials: VV
authors.lastname: Lupu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology; D012383:Romania / Q000453:epidemiology; D016896:Treatment Outcome