La neurofibromatosis (NF) es un grupo de síndromes neurocutáneos cáncer tipo hereditario que se asocian a tumores del sistema nervioso central y periférico. Existen 3 subtipos: Neurofibromatosis 1 (NF1), 2 (NF2) la Schwannomatosis; NF1 más representativa con el 96 % todos los casos, también conocida como enfermedad Von Recklinghausen, hereda carácter autosómico dominante, debida una mutación en...

Gastrointestinal involvement in neurofibromatosis is well recognised. We present an unusual manifestation of gastro-intestinal neurofibromatosis--chronic gastrointestinal bleeding from extensive smooth muscle tumours.

Neurofibromatoses are a set of inherited disorders, designated as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis, that tend to result in the development of benign tumors of the nerve sheath. The 3 entities are distinguished by specific clinical features and are due to mutations in distinct genes (Table 1). Neurofibromatosis type 1 is the most common of the d...

Learning that a child has—or may have—neurofibromatosis can be a very difficult experience. Very often it comes as totally unexpected news about a child who appears to be perfectly healthy save for the presence of some innocent-looking brown spots on the skin. Often these spots have gone overlooked for years, passed off as simple "birthmarks". Now, suddenly, a child is labeled as having "neurof...

neurofibromatosis type 2 is an inherited disease. the main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve viii usually as schwannoma. we report here a 20-year-old woman with primary intracranial malignant nerve sheath tumor located in the left cerebellopontine angle. histologically, the tumor showed malignant spindle c...

Neurofibromatosis is extremely variable in its presentation. Segmental neurofibromatosis (SNF), which corresponds to NF-type 5 in the Riccardi classification, is a rare disorder. It may go unrecognized if few lesions are observed. We present a case of segmental neurofibromatosis in a 28 year-old patient who presented with multiple papules and nodules distributed in dermatomal fashion on the tru...

Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting th...

Cognitive problems are common in children with neurofibromatosis type 1 and they can often complicate treatment. The current literature review examines cognitive functioning in neurofibromatosis type 1, with a specific focus on executive functioning. This includes exploration of how deficits in executive functioning are expressed in children with neurofibromatosis type 1 and how these deficits ...

Three patients with the central type of neurofibromatosis, who on CT showed multiple subependymal calcified deposits, are presented. The literature on intracranial non-tumourous calcifications in neurofibromatosis is briefly reviewed. On the basis of our findings and the literature, it is proposed that such intracranial calcified deposits may be part of the neurofibromatosis syndrome and are ca...