Author ORCID Identifier
Abstract
Pyridoxine dependent epilepsy (PDE) is a rare seizure disorder which manifests in neonatal period, but can be manifested in early infancy also. Seizures are seen in the first month of life in the classical form, but in the atypical form they don't show up until later in life, sometimes as late as three years old. It has an autosomal recessive inheritance caused by mutation in ALDH7A1 gene, causing deficiency of alpha-aminoadepic semialdehyde dehydrogenase commonly known as antiquitin (ATQ). Its deficiency leads to accumulation of metabolites, which causes deficiency of functional form of pyridoxine. The seizures are non-responding to antiepileptic medications, , but can be controlled with pyridoxine monotherapy .Herein, we are presenting a case of neonate presented at day of life 4 with mutifocal refractory seizures, had significant family history of neonatal seizure, responded to pyridoxine therapy. Genetic evaluation revealed the ALDH7A1 homozygus gene mutation, i.e. PDE.
Publication Date
2024
Publisher
JSS Academy of Higher Education & Research
Conflict of Interest
Nil
Keywords
neonatal seizure, epilepsy, pyridoxine, ALDH7A1 gene.
Word Count
851
Recommended Citation
Thorat R, Ansari Q, Randad K, Singh V, Sarkate A.
A rare case of early onset vitamin B6 dependent epilepsy.
Digital Journal of Clinical Medicine.
2024;
6(4):
-.
doi:
https://doi.org/10.55691/2582-3868.1190
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