Idiopathic pulmonary arterial hypertension in infancy: Rule out NFU1 deficiency
(2017) Belgian Society of Pediatric Neurology — Location: Bruges (22.September.2017)
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- Abstract
- Idiopathic pulmonary arterial hypertension (PAH) in early infancy is a severe condition, raised when no other pediatric disease nor genetic predisposition are found for explaining high pulmonary pressures. We herein report on a female infant misdiagnosed as having idiopathic PAH since age one month, which did not respond to bosentan and sildenafil. NFU1 deficiency was only suggested at 9 months when she demonstrated a neurological regression along with cavitating leukoencephalopathy and high levels of glycine in body fluids. Targeted sequencing confirmed the presence of the known c.622G>T (p.Gly208Cys) homozygous mutation in NFU1, a gene involved in the iron-sulfur cluster synthesis, which is an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. Unexplained PAH in early infancy should prompt the clinician to perform amino acid chromatography searching for high level of glycine, in particular in the event of associated neurological findings. NFU1 deficiency should appear in the metabolic causes of infant PAH as it is a prominent feature of this rare condition. Early recognition will avoid additional investigations and allow appropriate genetic counselling. No effective treatment is available to date to prevent the fatal course of this multiple mitochondrial dysfunction syndrome.
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Paquay, S., Sluysmans, T., Loeckx, I., Sznajer, Y., Vachiery, J.-L., Seneca, S., Nassogne, M.-C., & et al. (2017). Idiopathic pulmonary arterial hypertension in infancy: Rule out NFU1 deficiency. Belgian Society of Pediatric Neurology, Bruges. https://hdl.handle.net/2078.5/22405