Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant...

In the current era of low-birth rate in Korea, it is important to improve our neonatal intensive care and to establish an integrative system including a regional care network adequate for both high-risk pregnancies and high-risk newborn infants. Therefore, official discussion for nation-wide augmentation, proper leveling, networking, and regionalization of neonatal and perinatal care is urgently needed. In this report,...

Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level...

Central venous catheters (CVCs) are regularly used in intensive care units, and catheter-related bloodstream infection (CRBSI) remains a leading cause of healthcare-associated infections, particularly in preterm infants. Increased survival rate of extremely-low-birth-weight infants can be partly attributed to routine practice of CVC placement. The most common types of CVCs used in neonatal intensive care units (NICUs) include umbilical venous catheters,...

The innate immune response is the first line of defense against microbial infections. Innate immunity is made up of the surface barrier, cellular immunity and humoral immunity. In newborn, immunologic function and demands are different to adults. Neonatal innate immunity specifically suppresses Th1-type immune responses, and not Th2-type immune responses, which are enhanced. And the impaired response of macrophages is...