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

Published online by Cambridge University Press:  19 December 2005

Nuno JV Cordeiro ,
Kate R Gardner ,
Susan M Huson ,
Helen Stewart ,
John S Elston ,
Emma L Howard ,
Kjell O Tullus  and
Michael G Pike
Nuno JV Cordeiro
Affiliation:
Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
Kate R Gardner
Affiliation:
Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
Susan M Huson
Affiliation:
Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
Helen Stewart
Affiliation:
Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
John S Elston
Affiliation:
Oxford Eye Hospital, Oxford, UK.
Emma L Howard
Affiliation:
Department of Molecular Genetics, St Mary's Hospital, Manchester, UK.
Kjell O Tullus
Affiliation:
Department of Paediatric Nephrology, Great Ormond Street Hospital, London, UK.
Michael G Pike
Affiliation:
Department of Paediatrics, John Radcliffe Hospital, Oxford, UK.
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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.

Type
Case Report
Information
Developmental Medicine and Child Neurology , Volume 48 , Issue 1 , January 2006 , pp. 58 - 59
Copyright
© 2006 Mac Keith Press

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