Lethargy and hypotonia in a preterm neonate: Usual symptom with unusual diagnosis of mitochondrial trifunctional protein deficiency

Methodical evaluation of a neonate with common clinical findings (hypotonia and lethargy) is important whenever it cannot be attributed to the frequent causes. This case report is on a preterm neonate with persistent hypotonia and metabolic acidosis who was evaluated and diagnosed with mitochondrial trifunctional protein deficiency. A preterm male baby, second born to second degree consanguineous parents, was found to have persistent lethargy and hypotonia with severe metabolic acidosis despite the shock being corrected. Strong clinical suspicion for inborn errors of metabolism (IEM) was considered despite negative reports of first tier investigations for IEM. He was started on carnitine and biotin. Whole exome sequencing of the baby and Sanger sequencing of mother revealed mutation in HADHA gene suggesting mitochondrial trifunctional protein (MTFP) deficiency. He was started on special infant formula containing medium chain triglycerides along with breastfeeding. When common causes cannot be attributed to the clinical picture, evaluation for uncommon aetiologies should be strongly considered. In case of IEMs, early diagnosis and appropriate therapeutic measures can have satisfactory growth and development in the child

Incidence of complications following umbilical vein catheterisation in neonates

Background: Umbilical vein catheter (UVC) insertion in newborns has life threatening complications like Catheter related bloodstream infections (CRBSI), Portal vein thrombosis (PVT) and other mild complications. This study has been done to assess the incidence and risk factors of complications in neonates with umbilical vein catheterisation.Methods: A prospective observational study was carried out in neonates admitted to a South Indian tertiary care hospital between January 2017- June 2018.Results: Umbilical vein catheterisation was done for 65 neonates, of them 46 completed the study. One neonate (2%) developed CRBSI and none of them developed PVT in both baseline and follow up scans. Minor complications noted were repositioning in 26%, umbilical site leak in 23%, reattempts in 19%, catheter block in 13%, periumbilical erythema in 6% and umbilical site bleed in 2%. There was no statistical significance between minor complications and baseline study characteristics.Conclusions: Although UVC is a common and easy vascular access, it is not without complications. Incidence of serious complications following umbilical vein catheterisation is low when proper technique and sterile precautions are followed. However, the occurrence of mild complications following UVC insertion is high.