Gastro-oesophageal reflux: Rare presentation of Sotos syndrome in a neonate

  • Vaidehi Devendra Rakholia
  • , Shruthi Kumar Bharadwaj*
  • , Sheila Samanta Mathai
  • , Leslie Edward S. Lewis
  • *Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.

Original languageEnglish
Article numbere261325
JournalBMJ Case Reports
Volume17
Issue number7
DOIs
Publication statusPublished - 05-07-2024

All Science Journal Classification (ASJC) codes

  • General Medicine

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