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G66(P) Interesting cases of pyridoxine dependent epilepsy in late childhood
  1. S Jain,
  2. E Wassmer
  1. Neurology, Birmingham Children’s Hospital, Birmingham, UK


We report cases of two children with intractable epilepsy who responded to treatment with pyridoxine in late childhood.

Case details Case 1: A 14 year old girl born following an uneventful pregnancy to non consanguinous parents. She has global developmental delay. She developed epilepsy at around 2 years of age. Her extensive investigations including an MRI of brain were normal. She had various types of seizures and these were refractory to antiepileptic medications. A trial of pyridoxine at around 13 years of age surprisingly had a very good effect on her seizure control. We are currently awaiting the result of urinary L-α-aminoadipic semialdehyde (AASA).

Case 2: A 4 year old girl born following normal pregnancy developed infantile spasms at 4 months of age. She was treated with numerous courses of steroids with suboptimal response. Extended investigations including the MRI brain were normal. She eventually developed refractory epilepsy with cognitive decline. A trial of pyridoxine at 3 years of age achieved good control of epilepsy and improved her cognition as well. The urinary AASA was negative and the result of PNPO gene mutation is awaited.

Discussion Pyridoxine dependent epilepsy is a syndrome that usually presents with neonatal intractable seizures. It may present later in infancy or early childhood. A variety of seizure types are reported, the most common being generalised tonic clonic seizures which progress to status epilepticus. Urinary AASA is usually elevated and the genetic testing is available for this condition now. Our cases responded to the empirical trial of Pyridoxine at a much later age.

Conclusion We recommend testing for pyridoxine deficiency and therapeutic trial with pyridoxine in children with refractory epilepsy in all the age groups. Early detection and treatment of this condition not only achieves good seizure control but can possibly improve developmental outcome as well.

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