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A Rare Case of Pyridoxine-dependent Seizures in Infancy

V S S Yerramilli Murty1, M S S Kishore, Manisha R Patel

  • 1Department of Pediatrics, Maharajhas Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India.

Journal of Clinical Neonatology
|September 13, 2013
PubMed

Insights

Pyridoxine-dependent seizures cause recurrent neonatal seizures resistant to standard treatments. Prompt response to pyridoxine administration confirms this rare condition, highlighting the importance of continued treatment.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Pyridoxine-dependent seizures (PDCS) are a rare genetic disorder causing severe neonatal seizures.
  • These seizures are often refractory to conventional antiepileptic drugs.

Observation:

  • A male infant experienced neonatal seizures initially responsive to anticonvulsants.
  • Seizures recurred and became unresponsive to all anticonvulsant medications.
  • The infant's seizures ceased upon administration of pyridoxine.

Findings:

  • Recurrence of seizures after pyridoxine discontinuation confirmed the diagnosis.
  • Pyridoxine administration effectively controlled seizures in this patient.
  • The case underscores the critical role of pyridoxine in PDCS.

Implications:

  • Early diagnosis and treatment with pyridoxine are vital for preventing neurological damage.
  • Pyridoxine-dependent seizures require specific diagnostic and therapeutic approaches.
  • Increased awareness among clinicians can improve outcomes for affected infants.

Keywords:
Neonatal seizurespyridoxinepyridoxine-dependent seizuresresistant seizures

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