A STUDY OF CLINICAL AND METABOLIC PROFILE OF NEONATAL ENCEPHALOPATHY

Dr. Preeti Singh, Dr. Monika Singh, Dr. Seema Kapoor and *Dr. N. B. Mathur

ABSTRACT

Background: The proportion of neonates with unexplained encephalopathy due to metabolic error are likely to be high in view of high consanguinity rates in our attending population. We therefore intend to evaluate this still undefined group of neonatal encephalopathy in neonates and evaluate the proportion contributed by inborn errors of metabolism. Methods: The cross sectional observational study was conducted in Department of Pediatrics Maulana Azad Medical College and associated LokNayak Hospital in collaboration with the Department of Radiology. Results: Of 200 babies, 10 neonates had IEM. Among the babies detected with IEM, 4 had congenital lactic acidosis, 1 each of isovaleric acidemia, methylmalonic acidemia, propionic acidemia, orotic aciduria, Tyrosinemia 1 and tyrosinemia 2. Among 10 cases, 3 patients found to have abnormal excretion of organic acids in urine. Conclusion: With the advent of the Golden minute NRP program and establishment of SNCUs with early registration and identification of ante-partum and post partum asphyxia the burden of HIE is bound to decrease. Metabolic causes both of transient nature and those due to inborn metabolic errors may then contribute to significant neonatal mortality and morbidity. Addressing this may improve our approach to attaining the Millennium Development goals. There is also the need to impart information in order to alter the dynamics of the thought process of both the neonatologists and pediatricians who despite concrete markers like a sibling death or consanguinity fail to carry bout metabolic testing. Apart from changes at the societal level identification of these disorders have important implication in each family as the diagnosis may alter their reproductive decisions through genetic counseling.

Keywords: NE, SNCU, HIE.