Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2021  |  Volume : 16  |  Issue : 1  |  Page : 69--70

Treatable cause of refractory seizures in an infant with a novel mutation


Ruchi R Mittal1, Ranjith Kumar Manokaran2, Saji James1 
1 Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
2 Department of Paediatric Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Ranjith Kumar Manokaran
Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, No. 1, Ramachandra Nagar, Porur, Chennai 600116, Tamil Nadu.
India

Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures. Magnetic resonance imaging (MRI) brain was normal. Clinical exome sequencing showed a novel mutation in PROSC gene. He responded very well to pyridoxine and has been seizure free since the beginning of the treatment. PROSC gene mutations have been recently described as a cause for pyridoxine-dependent epilepsy. Here, we describe a first case report of PROSC mutation from India with a rare genetic variant presenting as pyridoxine-dependent epilepsy.


How to cite this article:
Mittal RR, Manokaran RK, James S. Treatable cause of refractory seizures in an infant with a novel mutation.J Pediatr Neurosci 2021;16:69-70


How to cite this URL:
Mittal RR, Manokaran RK, James S. Treatable cause of refractory seizures in an infant with a novel mutation. J Pediatr Neurosci [serial online] 2021 [cited 2021 Sep 20 ];16:69-70
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2021;volume=16;issue=1;spage=69;epage=70;aulast=Mittal;type=0