RESUMO

We relate the association of two distinct cases of neuromesoectodermosis occurred in a family, one manifested as neurofibromatosis type 1 and the other as tuberous sclerosis. The two anomalies at cousins, caused by different genetic mutations and transmitted by autosomal dominant inheritance, suggest a possible relation between them. Also, clinical manifestations are described, their consequences and the diagnostic criteria of both illnesses, emphasizing the importance of the precocious diagnosis.

Assuntos

Genes Dominantes/genética , Mutação/genética , Neurofibromatose 1/genética , Esclerose Tuberosa/genética , Adulto , Anticonvulsivantes/uso terapêutico , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/tratamento farmacológico , Linhagem , Fenitoína/uso terapêutico , Tomografia Computadorizada por Raios X , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/tratamento farmacológico