RT Journal Article
SR Electronic
T1 Rare association of Beckwith-Wiedemann syndrome with Hirschsprung’s disease in an infant with hypoglycemia
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e235121
DO 10.1136/bcr-2020-235121
VO 13
IS 4
A1 Nikhil Shah
A1 Anuradha Khadilkar
A1 Vaman Khadilkar
A1 Sagar Lad
YR 2020
UL http://casereports.bmj.com/content/13/4/e235121.abstract
AB Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia. She underwent a rectal biopsy for this, which was highly suggestive of Hirschprung’s disease. Following surgery, her abdominal distension and feed intolerance were settled and sugar control was improved. We present a rare association of Hirschsprung’s disease with Beckwith-Wiedemann syndrome. To the best of our knowledge, this association has not been previously reported and this added to the difficulty in managing hyperinsulinemic hypoglycaemia in our patient.