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Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

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Abstract

Incidental reports suggest that antenatal treatment of pyridoxine dependent seizures (PDS) may improve neurodevelopmental outcome of affected patients. Two families with PDS are reported, both with two affected siblings. Antenatal treatment with pyridoxine was instituted during the second pregnancy in each family (50 and 60 mg daily from 3 and 10 weeks of gestation, respectively). Perinatal characteristics and neurodevelopmental outcome at 4 (Family A) and 12 (Family B) years of age were compared between the untreated and treated child within each family. Meconium-stained amniotic fluid was present in both first pregnancies and abnormal foetal movements were noticed in one. In the treated infants, pregnancy and birth were uncomplicated. In family A, postnatal pyridoxine supplementation prevented neonatal seizures. Both children in family A were hypotonic and started walking after 2 years of age; both had white matter changes on MRI, and the first child was treated for squint. IQ was 73 and 98 in the antenatally untreated and treated child, respectively. The second child in family B developed seizures on the seventh day, because pyridoxine maintenance therapy had not been instituted after birth. Seizures responded rapidly to pyridoxine supplementation. MRI showed large ventricles and a mega cisterna magna. IQ was 80 and 106 in the antenatally untreated and treated child respectively. Both children had normal motor development. These results suggest that antenatal pyridoxine supplementation may be effective in preventing intrauterine seizures, decreasing the risk of complicated birth and improving neurodevelopmental outcome in PDS.

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Conflict of Interest

All authors declare that they have no conflict of interest. This study was not financially sponsored.

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Authors and Affiliations

  1. Department of Paediatrics, Máxima Medical Centre, P.O. Box 7777, 5500 MB, Veldhoven, The Netherlands

    Levinus A. Bok

  2. Department of Paediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands

    Jasper V. Been

  3. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands

    Eduard A. Struys & Cornelis Jakobs

  4. Department of Pediatric Psychology, Máxima Medical Centre, Veldhoven, The Netherlands

    Elisabeth A. M. Rijper

  5. Department of Paediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Michèl A. Willemsen

  6. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands

    Michèl A. Willemsen

Authors
  1. Levinus A. Bok
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  2. Jasper V. Been
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  3. Eduard A. Struys
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  4. Cornelis Jakobs
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  5. Elisabeth A. M. Rijper
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  6. Michèl A. Willemsen
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Correspondence to Levinus A. Bok.

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Bok, L.A., Been, J.V., Struys, E.A. et al. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr 169, 297–303 (2010). https://doi.org/10.1007/s00431-009-1020-2

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  • DOI: https://doi.org/10.1007/s00431-009-1020-2

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