Seizure solver- pyridoxine dependent seizures
1 Junior Resident, Department of Pediatrics, Base Hospital, Delhi Cantt, New Delhi, India.
2 Neonatologist and Head of Department, Department of Pediatrics, Base Hospital, Delhi Cantt, New Delhi, India.
3 Professor, Department of Pediatrics, Base Hospital, Delhi Cantt, New Delhi, India.
Case Study
Magna Scientia Advanced Research and Reviews, 2024, 12(01), 130–132
Article DOI: 10.30574/msarr.2024.12.1.0156
Publication history:
Received on 26 August 2024; revised on 04 October 2024; accepted on 07 October 2024
Abstract:
Pyridoxine dependency is a rare cause of seizures. Pyridoxine dependent seizures (PDS) occur despite normal vitamin B6 levels and is due to defective binding of pyridoxine to its apoenzyme, glutamate decarboxylase, which converts glutamic acid to gamma aminobutyric acid (GABA). Pyridoxine-dependent seizure is a rare autosomal recessive disorder that usually presents with neonatal intractable seizures. Parenteral pyridoxine injection test is a highly effective and reproducible test in confirming the diagnosis. Hunt, et al.(l) described the first case of PDS with autosomal recessive inheritance. Since then, several cases have been reported with onset of seizures after neonatal period (2-6). Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE-ALDH7A1. Intellectual disability is common, particularly in classic PDE-ALDH7A1.(7)
Keywords:
Pyridoxine deficiency; Refractory neonatal seizures; Status epilepticus; Whole exome sequencing; Neonatology
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