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Case Reports
. 2019 Sep-Dec;12(3):325-328.
doi: 10.4103/apc.APC_136_18.

"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

Paquay Stéphanie  1 , Barrea Catherine  2 , Sluysmans Thierry  2 , Vachiery Jean-Luc  3 , Loeckx Isabelle  4 , Seneca Sara  5   6 , Vô Christophe  2 , Nassogne Marie-Cécile  1
Affiliations
Case Reports

"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

Paquay Stéphanie et al. Ann Pediatr Cardiol. 2019 Sep-Dec.

Abstract

NFU1 deficiency is a rare metabolic disorder affecting iron-sulfur cluster synthesis, an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. It is a little-known cause of pulmonary arterial hypertension (PAH), while PAH is a prominent feature of the disease. We herein report on a female infant diagnosed as having idiopathic PAH since 1 month of age, who did not respond to bosentan plus sildenafil. NFU1 deficiency was only suggested and confirmed at 10 months of age when she demonstrated neurological deterioration along with high glycine levels in body fluids. Unexplained PAH in early infancy should prompt clinicians to perform amino acid chromatography searching for high glycine levels. Early recognition will avoid further invasive procedures and enable appropriate genetic counseling to be offered. No effective treatment is currently able to prevent the fatal course of this metabolic condition.

Keywords: Hyperglycinemia; NFU1; lipoic acid; neurological regression; pulmonary hypertension.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Apical four-chamber view showing a dilated heart and hypertrophied right ventricle. LA: Left atrium; RA: Right atrium; LV: Left ventricle; RV: Right ventricle
Figure 2
Figure 2
Subcostal view showing a dilated pulmonary artery and right ventricle, squeezing the left ventricle with systolic septal bowing into the left ventricle
Figure 3
Figure 3
Continuous wave Doppler recording the high-velocity pulmonary regurgitation related to high pulmonary artery pressure
Figure 4
Figure 4
Brain MRI, Axial T2 (a) and Flair (b), coronal T1 (c), diffusion (d) and apparent diffusion coefficient (e) sequences; Computed tomography (CT) scanner (f). Images showing diffuse abnormal intensity of the white matter involving periventricular regions
See this image and copyright information in PMC

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