title: Renal vascular disease in neurofibromatosis type 2: association or coincidence?
abstract: Neurofibromatosis type 2 (NF2) remains a challenging diagnosis in childhood where there may be no neurological involvement. A 12-month-old male in whom NF2 was suspected because of characteristic ophthalmological and cutaneous lesions is reported. Cranial MRI showed no tumours. A pathogenic mutation was identified on NF2 gene analysis. The child developed hypertension due to renal vascular disease. Although renal vascular disease is a recognized complication of neurofibromatosis type 1 (NF1), it has not been reported in NF2.
authors.affiliation: Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
authors.forename: Nuno J V
authors.initials: NJ
authors.lastname: Cordeiro
authors.forename: Kate R
authors.initials: KR
authors.lastname: Gardner
authors.forename: Susan M
authors.initials: SM
authors.lastname: Huson
authors.forename: Helen
authors.initials: H
authors.lastname: Stewart
authors.forename: John S
authors.initials: JS
authors.lastname: Elston
authors.forename: Emma L
authors.initials: EL
authors.lastname: Howard
authors.forename: Kjell O
authors.initials: KO
authors.lastname: Tullus
authors.forename: Michael G
authors.initials: MG
authors.lastname: Pike
mesh_terms: D001794:Blood Pressure; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D006978:Hypertension, Renovascular / Q000150:complications*; D007223:Infant; D008297:Male; D009154:Mutation; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000235:genetics