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

✍ Scribed by Nuno JV Cordeiro; Kate R Gardner; Susan M Huson; Helen Stewart; John S Elston; Emma L Howard; Kjell O Tullus; Michael G Pike

• Book ID: 104454327
• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 53 KB
• Volume: 48
• Category: Article
• ISSN: 0012-1622
• DOI: 10.1017/s0012162206000119

✦ Synopsis

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.