Renal vascular disease in neurofibromatosis type 2: association or coincidence?

被引：11

作者：

Cordeiro, NJV

Gardner, KR

Huson, SM

Stewart, H

Elston, JS

Howard, EL

Tullus, KO

Pike, MG

机构：

[1] John Radcliffe Hosp, Dept Paediat, Oxford OX3 9DU, England

[2] Churchill Hosp, Dept Clin Genet, Oxford, England

[3] Oxford Eye Hosp, Oxford, England

[4] St Marys Hosp, Dept Mol Genet, Manchester M13 0JH, Lancs, England

[5] Great Ormond St Hosp Sick Children, Dept Paediat Nephrol, London WC1N 3JH, England

来源：

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2006年 / 48卷 / 01期

关键词：

D O I：

10.1017/S001262206000119

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：58 / 59

页数：2

共 13 条

[1]

Baser M. E., 2002, Neurology, V59, P1759

[2]

DeVitis LR, 1996, HUM GENET, V97, P632

[3] Monocular elevator paresis in neurofibromatosis type 2 [J].