Roșca Ioana, Preda Andrei Gheorghe, Constantin Andreea Teodora, Coroleucă Ciprian, Severin Emilia, Teleanu Raluca Ioana, Turenschi Alina
Neonatology Department, Clinical Hospital of Obstetrics and Gynecology "Prof. Dr. P. Sârbu", Bucharest, Romania.
Department of Pediatrics, Neonatology, and Specialized Care, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Front Pediatr. 2023 Jun 19;11:1162226. doi: 10.3389/fped.2023.1162226. eCollection 2023.
The premature birth of a newborn can present a complex challenge for healthcare providers, particularly in cases of extreme prematurity combined with intrauterine growth restriction and multiple metabolic deficiencies. In this report, we aim to shed light on the difficulties and considerations involved in the management of such a case. In addition, our study is aimed to raise awareness of the importance of a multidisciplinary team in managing an extreme premature case with multiple comorbidities.
We present the case of a 28-week premature female newborn with very low birth weight (660 g, percentile <10%) and intrauterine growth restriction. She was born through emergency cesarean delivery due to maternal Hemolysis, Elevated Liver enzymes, and Low Platelet count (HELLP) syndrome and had a high-risk pregnancy (spontaneous twin pregnancy, with one fetus stopping development at 16 weeks and maternal hypertension). In the first hours of life, she presented with persistent hypoglycemia requiring progressive glucose supplementation up to 16 g/kg/day to maintain normal blood glucose levels. The baby then showed favorable progress. However, from days 24 to 25, hypoglycemia recurred and did not respond to glucose boluses or supplementation in both intravenous and oral feeds, leading to the suspicion of a congenital metabolic disorder. Endocrine and metabolic screenings led to suspicion of primary carnitine deficiency and a deficiency in hepatic form of carnitine-palmitoyltransferase type I (CPT1) on the second screening.
The study highlights rare metabolic anomalies that can be due to both organ and system immaturity and delayed enteral feeding and excessive use of antibiotics. The clinical implications of this study emphasize the need for careful monitoring and comprehensive care of premature infants to prevent and manage potential metabolic abnormalities by neonatal metabolic screening.
新生儿早产会给医护人员带来复杂挑战，尤其是在极早早产合并宫内生长受限及多种代谢缺陷的情况下。在本报告中，我们旨在阐明处理此类病例所涉及的困难与注意事项。此外，我们的研究旨在提高人们对多学科团队在管理伴有多种合并症的极早早产病例中的重要性的认识。
我们呈现了一例28周早产的女婴病例，其出生体重极低（660克，百分位数<10%）且存在宫内生长受限。她因母亲溶血、肝酶升高及血小板减少（HELLP）综合征通过急诊剖宫产出生，且有高危妊娠史（自然双胎妊娠，其中一个胎儿在16周时停止发育，母亲患有高血压）。在出生后的最初几个小时，她出现持续性低血糖，需要逐渐增加葡萄糖补充量至16克/千克/天以维持正常血糖水平。随后婴儿情况好转。然而，在第24至25天，低血糖再次出现，对静脉和口服喂养中的葡萄糖推注或补充均无反应，这引发了对先天性代谢紊乱的怀疑。内分泌和代谢筛查在第二次筛查时导致怀疑存在原发性肉碱缺乏以及肝脏形式的肉碱棕榈酰转移酶I（CPT1）缺乏。
该研究突出了罕见的代谢异常，其可能归因于器官和系统不成熟、肠内喂养延迟以及抗生素的过度使用。本研究的临床意义强调了对早产儿进行仔细监测和全面护理的必要性，以便通过新生儿代谢筛查预防和管理潜在的代谢异常。
