RESUMO

INTRODUCTION: Recklinghausen's disease is considered to be the autosomal dominant disorder with the highest rate of mutation after achondroplasia. It is a neuroectodermal disorder with considerable clinical effects. PATIENTS AND METHODS: We present a study of 14 patients seen for café-au-lait spots in the Clinical Genetics Department of the Hospital Infantil Sur. A detailed questionnaire and physical examination was done to obtain a clinical outline. CONCLUSION: Suspicion of this condition, together with laboratory investigations led to the conclusion that the cases were neurofibromatosis.

Assuntos

Neurofibromatose 1/diagnóstico , Adolescente , Adulto , Manchas Café com Leite/epidemiologia , Manchas Café com Leite/etiologia , Criança , Pré-Escolar , Cuba/epidemiologia , Diagnóstico por Imagem , Nanismo/epidemiologia , Nanismo/etiologia , Eletroencefalografia , Feminino , Humanos , Lactente , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/etiologia , Imageamento por Ressonância Magnética , Masculino , Melanose , Neurofibromatose 1/epidemiologia , Neurofibromatose 1/patologia , Escoliose/epidemiologia , Escoliose/etiologia , Tomografia Computadorizada por Raios X