Neurofibromatosis Type 1 (von Recklinghausen's disease) and pheochromocytoma: Case repor


Ukinç K., Erdöl H., EREM C., ALHAN E., Ersöz Ö., Hacıhasanoğlu A., ...More

Turkiye Klinikleri Journal of Medical Sciences, vol.26, no.6, pp.693-698, 2006 (Scopus)

  • Publication Type: Article / Article
  • Volume: 26 Issue: 6
  • Publication Date: 2006
  • Journal Name: Turkiye Klinikleri Journal of Medical Sciences
  • Journal Indexes: Scopus
  • Page Numbers: pp.693-698
  • Karadeniz Technical University Affiliated: Yes

Abstract

Abstract

A thirty years old male patient presented with elevated liver enzymes. Abdominal USG revealed an incidental large mass on the right surrenal gland. Clinical diagnosis of von Recklinghausen's (Neurofibromatosis Type 1) disease was made based on 6 or more cafe'au lait spots, 2 or more neurofibromas, 2 or more Lisch nodules, and scoliosis. Whole body metaiodobenzylguanidine ( 131I-MIBG) scintigraphy showed increased activity of the right adrenal gland. Urine metanephrine, normetanephrine, epinephrine, and norepinephrine levels were elevated. The diagnosis was pheochromositoma accompanying Neurofibromatosis Type 1. Surgery for the right pheochromositoma mass was planned. After preoperative preparation, right adrenalectomy was performed and the patient was healthy on discharge. Copyright © 2006 by Türkiye Klinikleri.