A newborn with hyperlactatemia and epileptic encephalopathy

Hyperlactatemia with encephalopathy in newborns can be attributed to multiple causes. A neonate with an epileptic encephalopathy caused by mutation of Arginyl tRNA synthetase (RARS2) gene was found to have hyperlactatemia. We propose a clinical paradigm for evaluation of hyperlactatemia in neonates utilizing clinical and radiological findings.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Tags: Case Studies issue Source Type: research