Publications by authors named "Sanjeev Chetry"

2 Publications

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Complexities of pyridoxine response in PNPO deficiency.

Epilepsy Behav Rep 2021 3;16:100443. Epub 2021 Apr 3.

Pediatric Neurology, Department of Pediatrics, Kalawati Saran Children's Hospital, Delhi, India.

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Genetic report confirmed the diagnosis of PNPO deficiency. A literature review on phenotypic variants in terms of response to pyridoxine is also presented along with a proposed algorithm to manage a case of suspected vitamin responsive epilepsy. This case highlights our limited understanding of why variation in response to treatment exists in children with PNPO deficiency.
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April 2021