Abstract

ORRACA CASTILLO, Miladys; LANTIGUA CRUZ, Araceli; LICOURT OTERO, Deysi  and  REYES LLANES, Mabel. A clinical and radiological study in patients suffering from type 1 neurofibromatosis. Pinar del Río.2006. Rev Ciencias Médicas [online]. 2008, vol.12, n.1, pp. 122-129. ISSN 1561-3194.

Type 1 Neurofibromatosis (NF1) is one of the most common autosomal and dominant diseases and is produced by defects in the NF1-gen located in 17q11.2 chromosome. A descriptive and transversal study was carried out in patients with NF1 in Pinar del Río during the year 2005, aimed at describing the brain clinical and radiological characteristics of this entity, selecting 42 patients suffering from NF1 associated with dimorphism, mental retardation, malignant degeneration, plexiform neurofibromas and masses of the CNS, predominating the milk-coffee colour spots, the inguinal and axillary freckles and Lisch's node, being frequent acromegaly, the mental retardation and the decrease in visual acuity; the increase of sella turcica was one of the most relevant radiological finding. The total of the predominant clinical characteristics in the study are diagnostic criteria of NF1. The radiological findings are a principal tool for diagnosis, predominating in those cases from a new mutation.

Keywords : Neurofibromatosis; degeneration.

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