Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature

Neurofibromatosis type 1 ( NF1 ) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders. The incidence of gastrointestinal manifestations of NF1 is relatively low, compared to neurological disorders, presenting approximately in 5 to 25% of the patient, but later in life.