Clinical manifestations of neurofibromatosis type 1 – a diagnostic and management challenge

Abstract

Introduction. Neurofibromatosis type 1 (NF1), caused by mutation of the tumour-suppressor gene encoding neurofibromin, is an autosomal dominant disorder affecting various organs.

Aim. The aim of the study was to discuss the clinical symptoms of NF1 based on seven cases of the disease with regard to the literature.

Material and methods. We analyzed retrospectively patients with NF1 (4 females and 3 males) aged 19-52 who were treated at Endocrinology Department between 2003 and 2017. The diagnosis was made in childhood (4 patients) or in adolescence (3 cases), based on clinical symptoms and genetic tests.

Results. Five patients had a positive family history of NF1, two cases represented spontaneous mutation. All of analyzed subjects presented café-au-lait spots and neurofibromas on the body. We observed neurological disorders such as: epilepsy (2 patients), Arnold-Chiari malformation (1 man), benign brain neoplasms (2 persons). Optic gliomas appeared in two cases. Tumours were also found in other organs, including the uterus (2 women), the lung, the adrenals, the pituitary and the parathy­roid gland (with signs of primary hyperparathyroidism) – each tumour in another patient. Four subjects suffered from cognitive impairment. Skeletal manifestations of neurofibromatosis type 1 such as scoliosis (1 man) and short stature (6 patients) have been noted as well. Five patients presented thyroid disorders – hypothyroidism due to Hashimoto’s disease (4 patients), toxic nodular goiter (1 woman). Other clinical symptoms e.g. vitiligo, alopecia areata and coarctation of aorta have also been found.

Conclusions. Variety of clinical symptoms causes that NF1 still remains a diagnostic and management challenge for many physicians. Therefore, multidisciplinary approach is needed to optimize patients’ treatment.