Pulmonary Arterial Hypertension as a Fatal Complication of Neurofibromatosis Type 1 in a Neonate: A Diagnostic Dilemma

Sinan Yavuz; Mona K Abdullah; Nader Francis

doi:10.7759/cureus.17137

Pulmonary Arterial Hypertension as a Fatal Complication of Neurofibromatosis Type 1 in a Neonate: A Diagnostic Dilemma

Cureus. 2021 Aug 12;13(8):e17137. doi: 10.7759/cureus.17137. eCollection 2021 Aug.

Authors

Sinan Yavuz¹, Mona K Abdullah², Nader Francis³

Affiliations

¹ Department of Pediatrics/ Specialist Pediatric, Al Qassimi Women and Children Hospital, Sharjah, ARE.
² Department of Pediatrics /Consultant Pediatrics and Neonatology, Al Qassimi Women and Children Hospital, Sharjah, ARE.
³ Department of Pediatrics/ Consultant Pediatric Pulmonology, Al Qassimi Women and Children Hospital, Sharjah, ARE.

Abstract

Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is a genetically transmitted autosomal dominant disease, with a prevalence of one per 4000 live births. Pulmonary arterial hypertension (PAH) is a rare but potentially life-threatening complication of NF1. There are no confirmatory data about the congenital association between PAH and NF1. However, in most cases, PAH is observed in late childhood or adulthood. Herein, we present a preterm baby with genetically confirmed NF1 who presented with PAH.

Keywords: congenital disease; genetic syndromes; idiopathic pulmonary arterial hypertension; neurofibromatosis type 1 (nf-1); preterm neonate.

Publication types

Case Reports