Korean J Med.  2013 Nov;85(5):521-525.

Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report

• Na SJ
• Lee HY
• Kim HS
• Seong HJ
• Jeon BS
• Jeon HK

Abstract

Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including cafe au lait macules, freckling in the axillary or inguinal regions, neurofibromas, and Lisch nodules (iris harmartomas), it can affect all physiological systems in the body [1]. Neurofibromatosis-related pulmonary hypertension has also been reported, and some patients showed a poor prognosis despite having received proper medical treatment [2-4]. We herein describe a case of pulmonary hypertension in a patient with neurofibromatosis type I who had no identified risk factors of pulmonary hypertension. To our knowledge, this is the first such report in Korea.

Keyword

Hypertension; Pulmonary; Neurofibromatosis 1

MeSH Terms

Humans
Hypertension
Hypertension, Pulmonary*
Korea
Neurofibroma
Neurofibromatoses*
Neurofibromatosis 1*
Neurofibromin 1
Prognosis
Risk Factors
Neurofibromin 1