Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...

INTRODUCTION Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma. However, papillary thyroid carcinoma associated with neurofibromatosis type 1 is very rare. We present what is, to the best of our knowledge, the first case of papillary thyroid carcinoma to be detected in...

BACKGROUND Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously. AIMS To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid dise...

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cases lesions of both tibia and fibula were found, in one case even over long seg...

Background and Aim: Neurofibromatosis-1(NF-1) is a common genetic condition in children. It is becoming increasingly recognized that in neurofibromatosis, there might be anomalous development of bone with or without any local anomaly of neuro-ectodermal basis. This review was conducted to highlight the different features of spinal disorders in this congenital disease. Methods and Materials: Di...

We present a case of laryngeal neurofibroma associated with neurofibromatosis type 2. Although laryngeal neurofibromas have previously been reported in cases of neurofibromatosis type 1, their presence has never been described in a patient with neurofibromatosis type 2.

Children with the neurofibromatosis type 1 (NF1) inherited tumor predisposition syndrome are at risk for the development of brain tumors. In addition, children with neurofibromatosis type 1 often exhibit low tone (hypotonia). In this study, the authors explored the hypothesis that hypotonia could be a clinical indicator of glioma in children with neurofibromatosis type 1. A total of 56 children...

Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix. Neurofibromatosis type 1 is an autosomal dominant disorder caused by a mutation in the NF1 gene. Patients with neurofibromatosis type 1 have an increased incidence of typical neuroendocrine tumors, but it is unknown if ...

BACKGROUND AND PURPOSE Neurofibromatosis type 1 is associated with increased risk for stroke, cerebral vasculopathy, and neurocognitive deficits, but underlying hemodynamic changes in asymptomatic children remain poorly understood. We hypothesized that children with neurofibromatosis type 1 have decreased cerebral blood flow. MATERIALS AND METHODS Arterial spin-labeled CBF was measured in 14 ...