Renal vascular disease in neurofibromatosis type 2: association or coincidence?
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.
Cordeiro
Nuno J V
NJ
Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
Gardner
Kate R
KR
Huson
Susan M
SM
Stewart
Helen
H
Elston
John S
JS
Howard
Emma L
EL
Tullus
Kjell O
KO
Pike
Michael G
MG
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