Ahmet Afsin Kundak

Therapeutic management of neonatal chylous ascites: report of a case and review of the literature

Congenital chylous ascites is a rare condition seen in the neonatal period and the data on pathogenesis and treatment modalities are limited. In this article, we report a case of neonate with chylous ascites and review the therapeutic management procedures on chylous ascites in childhood. We present our experience in the diagnosis and treatment of this condition.

An Unusual Presentation of Galactosemia: Hemophagocytic Lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis. The diagnosis of HLH can often be difficult. It may presents in many forms such as fever of unknown origin, hepatitis, acute liver failure, and sepsis-like illness. Here we present a newborn galactosemia case presented with HLH. Close monitoring of the diagnostic criteria of HLH during the course of galactosemia-associated hemophagocytosis, both before and after dietary treatment, should be performed in order to fully determine if the triggering mechanism is infection or accumulation of metabolites. Conflict of interest:None declared.

A Novel Mutation in ABCC8 Gene in a Newborn with Congenital Hyperinsulinism - A Case Report

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The genetic basis of CHI includes a variety of defects in key genes regulating insulin secretion. Mutations in at least seven genes are found in 50% of cases. The most common forms of medically unresponsive CHI, which requires a near-total pancreatectomy are associated with autosomal recessive mutations in the ABCC8 and KCNJ11 genes encoding the two subunits of the pancreatic β-cell ATP-sensitive potassium channel. We report a neonate with CHI and have a novel homozygous splicing mutation in the ABCC8 gene.

The effect of phototherapy on fecal calprotectin levels.

OBJECTIVE Fetal calprotectin levels increase in the early stages of necrotizing enterocolitis. Although the effects of several factors on fetal calprotectin have been studied, the effect of phototherapy is not known. In this study, we analyzed the effect of phototherapy on fetal calprotectin levels. METHODS Ninety breast-fed newborns (46 male, 44 female) who were hospitalized for indirect hyperbilirubinemia and treated with phototherapy were included to the study. Forty-two of them were term and 44 of them were preterm. Newborns treated with phototherapy (n = 53) constituted the phototherapy group (29 preterm, 24 term) and 37 newborns who did not receive phototherapy (19 preterm, 18 term) constituted the control group. Fecal samples were collected 24 hours after phototherapy had been started. Fecal samples (100 mg) were weighed with sensitive scales and preserved at -80°C after buffering with a special solution. All samples were studied at the same time with a fecal calprotectin kit by using enzyme-linked immunosorbent assay. RESULTS There were no statistically significant difference between fecal calprotectin levels of term and preterm babies who received phototherapy and babies who did not receive phototherapy. CONCLUSION There was no effect of 24-hour phototherapy on fecal calprotectin levels in preterm and term newborns.