Maternal death after postpartum onset of citrullinemia type Ⅰ: a case report

VernacularTitle:瓜氨酸血症Ⅰ型产妇产褥期发病后死亡一例
Author: Qiuming WANG ; Yahui XU ; Haiying WU
From: Chinese Journal of Perinatal Medicine 2021;24(2):131-134
CountryChina
Language:Chinese
Abstract: This paper reports a woman diagnosed with citrullinemia type I (CTLNⅠ) in puerperium who was unfortunately died later. The 28-year-old patient (G1P1) delivered a live girl at 39 +2 gestational weeks and was transferred from a local hospital to Henan Provincial People's Hospital on January 11, 2020, due to "a 3-day paroxysmal confusion accompanied by dizziness 4 days after delivery". Intermittent confusion, elevated blood ammonia, and citrulline concentration, and encephaledema were presented 10 h after delivery, and the patient eventually died of cerebral hernia on the day of self-discharge. Two pathogenic mutations of the ASS1 gene were found by genetic testing, including c.422t>G (p.val141gl; HET) and c.431c>G (p.pro144arg; HET) and confirmed the diagnosis of CTLNⅠ. CTLNⅠ is a life-threatening disease that could be easily overlooked and misdiagnosed and was difficult to treat. It most often occurs in newborns and infants, whilst it is rare during pregnancy and postpartum. The possibility of this disease should be considered in patients with neurological system symptoms and elevated blood ammonia during pregnancy or puerperium.