Neurofibromatosis type 1 is a common cancer predisposing condition. Tumors, particularly gastrointestinal tumors, are commonly associated with NF1 but are not widely known. In addition, the relationship between lung cancer and neurofibromatosis has been controversial until recently with the discovery of oncogenes such as p53.

A 54 year old woman with neurofibromatosis type 1 (NF-1) was found to have multiple coronary aneurysms. Intraoperative intravascular ultrasound (IVUS) revealed severe coronary disease proximal to the aneurysm that had not been apparent angiographically. An IVUS picture of one of the giant coronary aneurysms is also shown. The vascular manifestations of neurofibromatosis and the causes of corona...

It is well known that neurofibromatosis is one apparent etiology for the type of intracranial arterial occlusive disease known as moyamoya disease [1-4]. All previously reported cases of neurofibromatosis with moyamoya disease have had involvement only of the intracranial carotid circulation (supraclinoid internal carotid artery, middle cerebral artery, anterior cerebral artery) [1 -4]. We repo...

MR imaging of four children with neurofibromatosis demonstrated areas of increased T2 signal involving widespread multifocal regions of basal ganglia and brainstem. Such abnormalities have not been previously reported. No corresponding CT abnormalities were present. These regions may represent hamartomatous or low-grade gliomatous change, and appear to be characteristic of neurofibromatosis in ...

The report presents two cases of neurofibromatosis type 1 one previously known and one detected during pregnancy. It describes how the disease was detected and diagnosed, and what was the outcome of pregnancies. This is the first case of prenatal neurofibromatosis type 1 diagnosed in our clinic.

INTRODUCTION Neurofibromatosis 1 is one of the most common heritable genetic disorders in humans. It is characterized by formation of neurofibromas, with marked variability in expression. Half the cases are due to autosomal dominant inheritance; the rest arise from de novo mutations. Prevalence varies by population, and prevalence in Cuba is unknown. OBJECTIVE Determine the prevalence of neurof...

Plexiform neurofibroma is a rare variant but pathognomonic of von Recklinghausen disease. We report an uncommon presentation of neurofibromatosis type I in a girl. This 11-year old girl had multiple plexiform neurofibromas on her left hand, and also several Lisch’s nodules. Classification and clinical features are discussed briefly with emphasis on the possibility this condition may not be give...

Segmental neurofibromatosis (NF5) is a rare variant of neurofibromatosis. To our knowledge, there have been few reports of cases presenting later in life. The recognition of NF5 is important, as there have been reports of paraneoplastic manifestations and transmission to offspring. Here we present the case of a patient who presented with NF5 first appearing in her mid-50s. This case illustrates...