Zahid Maya, Khan Aysha Habib, Yunus Zabedah Md, Chen Bee Chin, Steinmann Beat, Johannes Haberle, Afroze Bushra
Aga Khan Medical University, Karachi, Pakistan.
Department of Pathology and Laboratory Medicine, Aga Khan University.
J Pak Med Assoc. 2019 Mar;69(3):432-436.
In spite of the efforts and interventions by the Government of Pakistan and The World Health Organization, the neonatal mortality in Pakistan has declined by only 0.9% as compared to the global average decline of 2.1% between 2000 and 2010. This has resulted in failure to achieve the global Millennium Development Goal 4. Hypoxic-ischaemic encephalopathy, still birth, sepsis, pneumonia, diarrhoea and birth defects are commonly attributed as leading causes of neonatal mortality in Pakistan. Inherited metabolic disorders often present at the time of birth or the first few days of life. The clinical presentation of the inherited metabolic disorders including hypotonia, seizure and lactic acidosis overlap with clinical features of hypoxic-ischaemic encephalopathy and sepsis. Thus, these disorders are often either missed or wrongly diagnosed as hypoxicischaemic encephalopathy or sepsis unless the physicians actively investigate for the underlying inherited metabolic disorders. We present 4 neonates who had received the diagnosis of hypoxic-ischaemic encephalopathy and eventually were diagnosed to have various inherited metabolic disorders. Neonates with sepsis and hypoxic-ischaemic encephalopathy-like clinical presentation should be evaluated for inherited metabolic disorders.
尽管巴基斯坦政府和世界卫生组织做出了努力并采取了干预措施，但2000年至2010年间，巴基斯坦的新生儿死亡率仅下降了0.9%，而全球平均降幅为2.1%。这导致未能实现全球千年发展目标4。缺氧缺血性脑病、死产、败血症、肺炎、腹泻和出生缺陷通常被认为是巴基斯坦新生儿死亡的主要原因。遗传性代谢紊乱通常在出生时或出生后的头几天出现。遗传性代谢紊乱的临床表现包括肌张力减退、癫痫和乳酸性酸中毒，与缺氧缺血性脑病和败血症的临床特征重叠。因此，除非医生积极调查潜在的遗传性代谢紊乱，否则这些疾病常常被漏诊或误诊为缺氧缺血性脑病或败血症。我们介绍了4例最初被诊断为缺氧缺血性脑病，最终被诊断为患有各种遗传性代谢紊乱的新生儿。具有败血症和类似缺氧缺血性脑病临床表现的新生儿应评估是否患有遗传性代谢紊乱。
