Mannose phosphate isomerase-congenital disorders of glycosylation (MPI-CDG) is a treatable congenital genetic metabolic disease caused by the pathogenic variation of the gene encoding MPI.It is mainly manifested as diarrhea, hepatomegaly, hypoglycemia, and coagulation dysfunction.This review described the pathogenesis, clinical manifestations, genotypes, diagnosis, treatment and management of MPI-CDG, aiming to enhance the understanding of MPI-CDG.

Objective To study the early survival rate and its influencing factors of extremely preterm infants and extremely low birth weight ( ELBW ) infants.Method All extremely preterm infants and/or ELBW infants in Shandong Provincial Hospital from January , 2010 to December 2015 were studied retrospectively.The factors affecting their survival rate and their complications were analyzed retrospectively . All cases were assigned into the survival group and the death group .On the other hand , they were also assigned into two groups according to their birth , pre-2014 and post-2014.Result A total of 142 extremely preterm infants and/or ELBW infants were enrolled, their gestational age was 28 (27, 29) weeks, birth weight was 925 (830, 965) g.76 cases (53.5%) survived, 66 cases (46.5%) died.Factors associated with the survival rate were early onset sepsis , placental abruption , perinatal asphyxia , birth weight and pulmonary hemorrhage (P<0.05).There were 67 cases pre-2014 in which 30 cases survived (44.8%), while 75 cases post-2014 in which 46 cases survived ( 61.3%) .Comparative analysis between the two groups pre-2014 and post-2014 revealed that the survival rate was significantly different (χ2 =3.900, P=0.048).The top 2 underlying causes of death before 2014 were perinatal asphyxia and early onset sepsis . Furthermore, early onset infection became the first cause of death after 2014.Conclusion Along with the prevalence of neonatal resuscitation program and the optimization of respiratory support strategies in premature infants , the early survival rate of extremely preterm infants and /or ELBW infants has improved significantly.However, early onset sepsis may have been the crucial cause for their perinatal mortality .

This study reported the diagnosis and treatment of cytochrome P450 oxidoreductase deficiency (PORD) in a male infant. The patient was admitted to Children's Hospital Affiliated to Shandong University at the age of 38 days due to nasal obstruction and feeding difficulties presented at 10 d after birth, as well as less weight gain. Physical examination showed craniosynostoses, hand and foot deformities, and normal external genitalia. Laboratory examination revealed mildly elevated serum adrenocorticotrophic hormone and decreased level of baseline cortisol. A homozygous mutation of c.1370G>A(p.R457H) in POR gene was detected by whole-exome sequencing, which confirmed the diagnosis of PORD. Skeletal deformities complicated by external genital malformations and/or adrenocortical hormone abnormalities are important diagnostic indicators for PORD.