title: [Central von Recklinghausen disease: report of a clinical case with multifocal symptoms and hydrocephalus due to stenosis of the aqueduct (author's transl)].
abstract: A case of von Recklinghausen disease is described in a boy aged 9 years, whose major manifestation was a severe progressive hydrocephalus due to aqueductal stenosis. Family history revealed an autosomal dominant mode of inheritance of the neurofibromatosis. Like other reports in the literature, our case suggests secundary aqueductal stenosis to gliosis typical of "central" forms of von Recklinghausen disease. It seems probable that aqueductal stenosis is dependent on periaqueductal gliosis.
mesh_terms: D002535:Cerebral Aqueduct; D002648:Child; D003251:Constriction, Pathologic; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree
vernacular_title: Malattia di von Recklinghausen ad espressione "centrale": descrizione di un caso clinico con sintomatologia multifocale ed idrocefalo da stenosi dell'acquedotto di Silvio.