MON-080 Unusual Association Between Congenital Hyperinsulinism and Neurofibromatosis Type 1

Neurofibromatosis Type 1 and Diabetes Mellitus: An Unusual Association

Neurofibromatosis type 1 is a multisystemic disease. It may manifest as abnormalities of the nervous tissue, bones, soft tissue, or skin. Autoimmune disease associated with NF1 can be seen. Diabetes mellitus is rarely seen in association with NF1. Here, we report a case with established NF1 who also had a diagnosis of diabetes mellitus.

Neurofibromatosis Type 1 with Unusual Oral Manifestations

Neurofibromatosis (NF) is a genetically transmitted autosomal dominant disorder with variable penetrance and about 50% of cases representing new mutations. It is progressive in nature and one of its unique feature is the diversity of clinical expression from one patient to another and even within a family. The disease is often characterized by complex and multicellular neurofibroma. It may also...

[Congenital hyperinsulinism].

In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...

[Sturge-Weber syndrome and type 1 neurofibromatosis: a chance association?].

The association between hypotonia and brain tumors in children with neurofibromatosis type 1.

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...