Twins with different temporal lobe malformations: Schizencephaly and arachnoid cyst

  • Briellmann R
  • Jackson G
  • Torn-Broers Y
 et al. 
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The etiology and relationships between different forms of malformations of cortical development are poorly understood. Schizencephaly is generally regarded as unrelated to arachnoid cysts. As part of a systematic study of epilepsy in twins we observed a monozygotic twin pair discordant for temporal lobe epilepsy where the twin with epilepsy had unilateral temporal schizencephaly and periventricular heterotopia. The twin without epilepsy had an arachnoid cyst in the same temporal lobe. Although an incidental association is possible, this observation, together with occasional reports of schizencephaly and arachnoid cysts within one individual, suggests a shared pathogenic mechanism. Schizencephaly can be caused by both genetic and acquired factors. We propose that our observations in this twin pair are best explained by a genetic factor present in both twins, with an additional environmental insult resulting in schizencephaly in only one of the pair.

Author-supplied keywords

  • Arachnoid cyst
  • Magnetic resonance imaging
  • Schizencephaly
  • Temporal lobe epilepsy
  • Twins

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