| CASE REPORT |
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| 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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpn.JPN_68_20
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.
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