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.

We present a patient with NF1, ventricular polyposis and attentional disorders with cognitive phenotype, while both of her daughters also present with cutaneous manifestations of NF1.

To the best of our knowledge, this is the first reported case of NF1 with ventricular polyposis as a gastrointestinal manifestation in the mother and NF1 with no signs of inner organ involvement in both of her daughters.