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[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl]

Li Yang1, Yu-Fen Li, Li-Yun Xu

  • 1Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276001, China. taishanjiaoxia39@163.com.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|January 20, 2017
PubMed

Insights

Pyridoxine-dependent epilepsy is a rare genetic disorder. Early diagnosis and pyridoxine supplementation can effectively control seizures in affected children.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Pyridoxine-dependent epilepsy (PDE) is a rare inherited metabolic disorder.
  • It presents in infancy with intractable seizures resistant to conventional antiepileptic drugs.
  • Clinical suspicion of Dravet syndrome was initially considered due to refractory epilepsy and normal EEG/MRI findings.

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