{Reference Type}: Case Reports
{Title}: Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate.
{Author}: Rakholia VD;Bharadwaj SK;Mathai SS;Lewis LES;
{Journal}: BMJ Case Rep
{Volume}: 17
{Issue}: 7
{Year}: 2024 Jul 5
暂无{DOI}: 10.1136/bcr-2024-261325
{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.