TY - JOUR
T1 - Gastro-oesophageal reflux
T2 - Rare presentation of Sotos syndrome in a neonate
AU - Rakholia, Vaidehi Devendra
AU - Bharadwaj, Shruthi Kumar
AU - Mathai, Sheila Samanta
AU - Lewis, Leslie Edward S.
N1 - Publisher Copyright:
© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.
PY - 2024/7/5
Y1 - 2024/7/5
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85197806873
UR - https://www.scopus.com/pages/publications/85197806873#tab=citedBy
U2 - 10.1136/bcr-2024-261325
DO - 10.1136/bcr-2024-261325
M3 - Article
C2 - 38969392
AN - SCOPUS:85197806873
SN - 1757-790X
VL - 17
JO - BMJ Case Reports
JF - BMJ Case Reports
IS - 7
M1 - e261325
ER -