DOAJ Open Access 2021

Complexities of pyridoxine response in PNPO deficiency

Rajni Farmania Ankit Gupta Kumar Ankur Sanjeev Chetry Suvasini Sharma

Abstrak

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.

Topik & Kata Kunci

Neurology. Diseases of the nervous system Neurophysiology and neuropsychology

Penulis (5)

Rajni Farmania

Ankit Gupta

Kumar Ankur

Sanjeev Chetry

Suvasini Sharma

Format Sitasi

APA MLA BibTeX

Farmania, R., Gupta, A., Ankur, K., Chetry, S., Sharma, S. (2021). Complexities of pyridoxine response in PNPO deficiency. https://doi.org/10.1016/j.ebr.2021.100443

Akses Cepat

PDF tidak tersedia langsung

Cek di sumber asli →

Lihat di Sumber doi.org/10.1016/j.ebr.2021.100443

Informasi Jurnal

Tahun Terbit: 2021
Sumber Database: DOAJ
DOI: 10.1016/j.ebr.2021.100443
Akses: Open Access ✓