Characterization and chronological changes of preterm human milk gangliosides.

OBJECTIVE: Gangliosides are present in high concentrations in the nervous tissue, and some are observed in small amounts in many extraneural tissues and body fluids. Human milk may play important roles in energy supplementation, prophylaxis of infection, and brain development. For preterm infants, human milk gangliosides are also very important substances during the early lactation stage. However, there are no data on human milk gangliosides from mothers at preterm delivery. We investigated the characterization of gangliosides and chronologic changes in human preterm milk earlier than 30 wk of gestation from 1 to 60 d after birth. METHODS: Forty-one samples were analyzed by high-performance thin-layer chromatography and a microtechnique using 1 mL of milk from each lactation and compared with 61 full-term human milk samples. RESULTS: Total lipid-bound sialic acid of human milk gangliosides after preterm delivery showed a peak concentration at 2 to 3 d postpartum and then remained at a high concentration until approximately 10 d. GD3 was the major ganglioside in the colostrum until approximately 7 to 10 d postpartum. GM3 was scarcely detected until 7 d postpartum and then increased gradually. There was no difference in the GD3 concentration per 1 mL of human milk between preterm and full-term human milk until approximately 5 to 8 d postpartum. After that time, the GD3 concentration decreased sharply. In contrast, the total concentrations of GM3 per 1 mL of human milk from mothers after preterm delivery were lower than those from mothers after full-term delivery throughout the entire period examined. CONCLUSION: This finding is essential to elucidate the composition of human milk gangliosides after preterm delivery, which may contribute to the analysis of the physiologic composition and formulation appropriate preterm infant nutrition.

Neonatal onset diffuse cutaneous mastocytosis: a case report and review of the literature.

Diffuse cutaneous mastocytosis is a rare variant of mast cell disease with widespread erythroderma, which is normally clinically apparent in early infancy. We report the case of a neonate who presented with diffuse erythrodermic rash and bullous lesions. Biopsy specimens showed a dense dermal infiltrate of mast cells. Serum histamine and tryptase levels were elevated. No somatic mutation of the c-kit gene was found. Blistering ceased at 5 months of age, but atopic dermatitis appeared at 6 months and allergic workup revealed a high level of food-specific IgE. Herein, we describe the case and provide the first review of the literature on neonatal onset diffuse cutaneous mastocytosis to clarify the prognosis of this condition.

The subclassification of schizencephaly and its clinical characterization.

We subclassified schizencephaly based on the association with optic nerve hypoplasia (ONH) and the absence of the septum pellucidum (ASP), and then characterized their clinical presentation and prognosis. The subjects of our study consisted of 10 cases with a mean age at the final evaluation of 10 years 3 months (range, 7 months to 25 years). The subclassification of schizencephaly consisted of the septo-optic dysplasia (SOD) group (n=3), with ONH and ASP; the optic hypoplasia (OHP) group (n=2), with ONH and without ASP, and; the classical group (n=5), without ONH. The subjects with an open-lip cleft in the SOD and the classical group showed hydrocephalus, but those in the OHP group did not. The SOD and the OHP group displayed severe psychomotor retardation regardless of the cleft morphology, but in the classical group, the subjects with an open-lip cleft or with diffuse cortical dysplasia were severely retarded. The SOD and the OHP group displayed intractable epilepsy. In contrast, all subjects in the classical group showed good control of epilepsy. The results of our investigation show that the subclassification of schizencephaly based on the association with ONH and ASP is useful. The SOD group means early fetal brain injury which results in extended cortical dysplasia while the OHP group means severe destructive brain injury which results in cerebro-cerebellar disruption.