Article
3-Methylglutaconic aciduria type VIII in an Indian neonate.
Birth defects research - 1 Aug 2020
Sreedhara Malla Sadashivappa, Balakrishnan Umamaheswari, Amboiram Prakash, Chandrasekeran Ashok, Abiramalatha Thangaraj, Mohammad Shafi Jan Shaik, Rajendran Usha Devi, Jeyaraman Thinesh Kumar
Abstract excerpt
Neonatal encephalopathy manifests with altered sensorium, tone abnormalities, and often with abnormal movements and seizures. The causes are heterogeneous and many. We report a late preterm neonate who presented with depressed sensorium, cranial nerve abnormalities, mixed hypertonia and hypotonia, and respiratory failure. Neuroimaging and electrophysiological studies were normal. She had neutropenia and elevated...
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