| Autor: |
Rajni Farmania, Ankit Gupta, Kumar Ankur, Sanjeev Chetry, Suvasini Sharma |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100443- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2589-9864 |
| DOI: |
10.1016/j.ebr.2021.100443 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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