Endocrine Abstracts

Introduction: Neurofibromatosis type 1 (NF1; von Recklinghausen’s disease) is an autosomal disorder with the prevalence 1 in 3,000 births. It is caused by mutation of the tumour-suppressor gene encoding neurofibromin. NF1 may affect various organs and patients are at increased risk of developing many neoplasms.

Material and methods: We analysed seven cases of patients with NF1 (four females and three males) aged 19–52 who were treated at Endocrinology Department between 2003 and 2013 to describe clinical manifestations. In studied subjects, the diagnosis was made in childhood (four patients) or in adolescence (three cases), based on clinical symptoms and genetic tests as well.

Results: Five patients had a positive family history of NF1, two cases represented spontaneous mutation. All of analysed subjects presented café-au-lait spots and neurofibromas on the body. Neurological disorders such as: epilepsy (two patients) and Arnold–Chiari malformation (one man) have been observed. Benign brain neoplasms developed in two persons. Optic gliomas appeared in two cases: one man had a surgery and received radiotherapy due to optic chiasma astrocytoma, one woman was operated because of bilateral optic gliomas. Tumours were also found in other organs: leiomyomas in the uterus (two woman) and pheochromocytoma, nodule of the lung, adenoma in the pituitary gland and parathyroid adenoma with primary hyperparathyroidism – in one patient each. Four patients suffered from cognitive impairment. Moreover, we observed skeletal manifestations of NF1 such as scoliosis (one man) and short stature (six patients). Most of analysed subjects presented thyroid disorders, including hypothyroidism due to Hashimoto’s disease (four patients) and toxic nodular goiter (one woman). Other clinical symptoms such as: vitiligo, alopecia areata and coarctation of the aorta have also been found.

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