Abstract

A 7-day-old neonate presents to our NICU with multiple jerky movements of both upper and lower limbs and floppiness. He is the product of a third-degree consanguineous marriage and is born in a peripheral institution. He has a sister who is 6 years old and is healthy. ### Birth to 7 Days after Birth The neonate is born vaginally and requires bag and mask ventilation for 5 minutes. He is transferred to a level II NICU, where he stays for 5 days. He exhibits features of encephalopathy and also has a multifocal clonic seizure 2 hours after birth; he receives a single loading dose of phenobarbital. He is diagnosed as having hypoxic-ischemic encephalopathy (HIE) grade 2. Subsequently, his sensorium improves and he is discharged while breastfeeding exclusively. Since day 6, he has been having multiple episodes of multifocal clonic seizures and is brought to our NICU on day 7. ### Day 7 to Day 23 A strong suspicion of neurometabolic disorder arises in view of consanguinity and refractory seizures. He is nil per os. He requires full loading doses of antiepileptic drugs (AEDs) phenytoin and phenobarbital, after which his seizures stop. Testing for blood glucose, arterial lactate, pH, serum ammonia, urine ketones, and urine-reducing substances and tandem mass spectroscopy …

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