Inherited diarrheal disorders cause serious morbidity resulting in dependence on intensive care and parenteral nutrition. Microvillus inclusion disease (MVID) has been classically described and results from mutations in the gene coding myosin Vb, which is responsible for enterocyte polarization. Newer reports of mutations resulting in truncated syntaxin 3 (STX3) and Munc18-2 (STXBP2) proteins have been elucidated as causative. To date, five cases of STX3 abnormalities resulting in MVID have been described. We report an infant who presented with congenital diarrhea and was determined to have a rare mutation of STX3. This new finding would be beneficial in future functional genotype–phenotype correlation studies.
Umbilical vein catheterization is considered a critical requirement in preterm neonates for the administration of fluids and parenteral nutrition. However, inadvertent migration and malposition are known to cause complications that are often life-threatening. We describe a neonate with parenteral nutrition-associated lipid ascites owing to extravasation from an umbilical vein cannula. Fatality was averted due to prompt recognition and paracentesis that was therapeutic and confirmed the diagnosis as well.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.