Pediatrics, KS Hegde Medical Academy, Mangalore, Karnataka, India.
Pediatrics, KS Hegde Medical Academy, Mangalore, Karnataka, India
BMJ Case Rep. 2022 Jun 7;15(6):e248001. doi: 10.1136/bcr-2021-248001.
Inborn errors of metabolism constitute a differential diagnosis in infants presenting with encephalopathy in developing countries where expanded newborn screening is not a state health programme. Acute neurological presentation with encephalopathy is documented in paediatric COVID-19. The pandemic has also altered parents' healthcare-seeking behaviour, leading to delays in emergency care. We illustrate the challenges faced in diagnosing and managing an 18-month-old child who presented with acute metabolic crisis due to methylmalonic acidaemia on the background of the COVID-19 pandemic. We discuss the current global status of expanded newborn screening services for inborn error of metabolism and the impact of the pandemic on the healthcare of children.
先天性代谢缺陷是发展中国家出现脑病的婴儿的鉴别诊断,在这些国家,扩大新生儿筛查并不是一项国家卫生计划。急性神经表现伴脑病在儿科 COVID-19 中已有记载。大流行也改变了父母的医疗保健寻求行为,导致急诊延迟。我们在 COVID-19 大流行背景下,说明了一个 18 个月大的儿童因甲基丙二酸血症导致急性代谢危机的诊断和治疗方面面临的挑战。我们讨论了当前扩大先天性代谢缺陷新生儿筛查服务的全球状况以及大流行对儿童医疗保健的影响。