RESUMO
BACKGROUND: Magnetic resonance imaging (MRI) findings suggestive of neurocutaneous melanosis (NCM) have been reported in asymptomatic patients with giant congenital melanocytic nevi (GCMN). OBJECTIVE: To investigate the presence of NCM and the clinical neurologic status of patients with GCMN involving the head an neck. METHODS: Thirteen patients with GCMN involving the head and neck were clinically examined by pediatric specialists in dermatology, ophthalmology and neurology. Electroencephalograms, noncontrasted and contrasted computerized tomography (CT) scans and MRI were performed. RESULTS: Eleven of 13 patients with GCMN of the head and neck previously considered asymptomatic were found to present mild but evident neurologic alterations. No signs of NCM were found in the CT scans or in the MRI. CONCLUSIONS: Patients with GCMN of the head and neck may have associated neurologic alterations not related to the presence of neurocutaneous melanosis.
Assuntos
Doenças do Sistema Nervoso Central/diagnóstico , Melanose/diagnóstico , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adolescente , Adulto , Doenças do Sistema Nervoso Central/complicações , Criança , Pré-Escolar , Diagnóstico Diferencial , Eletrocardiografia , Feminino , Cabeça , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Melanose/complicações , Pescoço , Exame Neurológico , Nevo Pigmentado/complicações , Nevo Pigmentado/congênito , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/congênito , Tomografia Computadorizada por Raios XRESUMO
We characterized a mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome. Southern blot hybridization showed that 86 to 93% of the mitochondrial genome harbored a 5.0 kb deletion. The percentage of affected genomes is higher than in previously described cases. Direct sequencing of the breakpoint region revealed that the deletion extended 5025 bp from nt 10,050 in the tRNA Gly gene to nt 15,076 in the cytochrome b gene, thus 30% of the total mitochondrial genome was lost by this deletion. A pair of extremely short mirror sequences flanking the mitochondrial DNA breakpoints were identified. These flanking sequences differ from previously published consensus 'hot-spots', known to give rise to deletions in human mitochondrial DNA.
