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

  • Nuno JV Cordeiro (a1), Kate R Gardner (a1), Susan M Huson (a2), Helen Stewart (a2), John S Elston (a3), Emma L Howard (a4), Kjell O Tullus (a5) and Michael G Pike (a1)...


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.


Corresponding author

Paediatric Neurology, Department of Paediatrics, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK. E-mail:


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