Frontiers in Pediatrics (Sep 2022)

Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report

  • Ying Yu,
  • Cuiyun Li,
  • Wei Li,
  • Liting Chen,
  • Dan Wang,
  • Jie Wang,
  • Jian Wang,
  • Jian Wang,
  • Ruen Yao,
  • Ruen Yao

DOI
https://doi.org/10.3389/fped.2022.931667
Journal volume & issue
Vol. 10

Abstract

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SATB1 variants causing developmental delay with dysmorphic facies and dental anomalies have been reported in a small cohort. Most patients present epilepsy as a main clinical feature in neurodevelopmental disorders; however, its treatment is unknown. Here, we present a Chinese patient with a de novo truncating variation in SATB1 who presented with mild developmental delay. We disclose the detailed anti-epileptic pharmacological treatment that enabled a favorable outcome. Our study provides important information that may aid clinicians in the prognosis and treatment of rare neurological developmental disorders caused by gene mutations.

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