Síndromes Neurocutáneos identificables por el Médico General Integral mediante examen físico / Identifiable Neurocutaneous Syndromes at General Comprehensive Medical physical examination

Introducción: el Síndrome Neurocutáneo es el término general que se utiliza para referirse a determinados trastornos neurológicos. Constituye un grupo heterogéneo de desórdenes congénitos que afectan principalmente a las estructuras derivadas del neuroectodermo embrionario. Objetivo: caracterizar los hallazgos clínicos de los Síndromes Neurocutáneos identificables al examen físico por el Médico General Integral. Métodos: se realizó un trabajo de revisión donde se utilizaron métodos teóricos en el proceso de revisión de la bibliografía actualizada seleccionada, específicamente en el campo de la neurología, la dermatología y la genética. Resultados: las características clínicas de la Esclerosis Tuberosa, Neurofibromatosis Tipo 1, Tipo 2, Schwannomatosis y Enfermedad de Sturge-Weber (Sindromes Neurocutáneos) se pueden identificar durante el examen físico. Conclusiones: el adecuado conocimiento por el Médico General Integral, de las características clínicas del síndrome neurocutáneo, considerando su heterogeneidad y expresividad clínica, permite realizar al examen físico el diagnóstico oportuno de la enfermedad, lo que favorece el manejo del paciente...

Introduction: the neurocutaneous syndrome is the general term used to refer to certain neurological disorders. It is a heterogeneous group of congenital disorders that primarily affect structures derived from the embryonic neuroectoderm. Objectives: to characterize the clinical features of neurocutaneous syndromes that are identifiable at physical examination by the general comprehensive physician. Methods: a review of the selected current literature was performed for theoretical methods, specifically, in the field of neurology, dermatology and genetics. Results: the clinical characteristics of tuberous sclerosis, types 1and 2 neurofibromatosis, Schwannomatosis and Sturge-Weber disease (Neurocutaneous Syndromes) can be identified during the physical examination. Conclusions: knowledge of clinical features of the neurocutaneous syndrome, considering its clinical heterogeneity and expressiveness, physical examination allows early diagnosis of the disease by general comprehensive physician. This knowledge favors patient management...

Tuberous sclerosis with rhabdomyoma.

Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.

Parenchymal Neurocutaneous Melanosis in Association with Intraventricular Dermoid and Dandy-Walker Variant: A Case Report

Neurocutaneous melanosis (NCM) is a rare congenital disease that is characterized by the presence of large or multiple congenital melanocytic nevi and melanotic lesions of the central nervous system. We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation.