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Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate
  1. Vaidehi Devendra Rakholia1,
  2. Shruthi Kumar Bharadwaj2,
  3. Sheila Samanta Mathai2 and
  4. Leslie Edward S Lewis1
  1. 1Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India
  2. 2Department of Neonatology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India
  1. Correspondence to Dr Shruthi Kumar Bharadwaj; shruthi.kb{at}


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.

  • genetic screening / counselling
  • neonatal intensive care
  • congenital disorders
  • SIDS
  • pediatrics

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  • X @Shruthi Bharadwaj @skb_bmc

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: VDR, SKB, SSM and LESL. The following authors gave final approval of the manuscript: VDR, SKB, SSM and LESL.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.