RESUMO
The authors report three patients with neurofibromatosis type 1 and different types of malformations of cortical development: Patient 1 had a possible transmantle cortical dysplasia involving the right temporoinsuloparieto-occipital areas; Patient 2 had a periventricular band of heterotopic gray matter with an overlying pachygyric cerebral cortex; and Patient 3 had a left perisylvian polymicrogyria. Because all of these lesions result from different pathogenetic mechanisms, neurofibromin may play a role during several stages of cortical development.
Assuntos
Córtex Cerebral/anormalidades , Malformações do Sistema Nervoso/diagnóstico , Neurofibromatose 1/diagnóstico , Adolescente , Adulto , Córtex Cerebral/patologia , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Eletroencefalografia , Feminino , Humanos , Deficiência Intelectual/etiologia , Imageamento por Ressonância Magnética , Masculino , Malformações do Sistema Nervoso/complicações , Neurofibromatose 1/complicações , Convulsões/etiologiaRESUMO
We describe a 16-year-old female affected by septo-optic dysplasia (SOD) with digital anomalies as additional feature. This rare developmental anomaly of midline brain structures can result from different pathogenetical events, including mutations of the homeo box gene HESX1, recently suggested as the etiological cause at least in a subset of patients. The absence of mutational involvement of this gene in our patient led us to consider, in alternative terms of pathogenesis, the maternal multidrug abuse occurring during pregnancy. Our report, in accord with previous experimental evidences, points out that illicit drug use might have played a causative role in brain development anomalies, thus our patient could represent an additional case of birth defects caused by a prenatal toxic exposure. The neurologic abnormalities and the clinical history of the patient are extensively reviewed. The need to include the SOD phenotype amongst the possible teratogenic effects of multidrug abuse is evidenced.