ESPE Abstracts

Background: Adrenal insufficiency is a rare cause of neonatal cholestasis, which is reversible with prompt glucocorticoid administration.

Case presentation: A 2-month old baby boy was referred to the paediatric endocrine department for evaluation of intermittent hypoglycaemia associated with metabolic acidosis, hyponatraemia and hyperkalaemia. The infant was second born to second-degree consanguineous parents whose firstborn had died in the neonatal period with a history of hypoglycaemia and septic shock. The baby was born at term with a birth weight of 2.19 kg and was transferred to a tertiary care centre for further management of projectile vomiting associated with acid-base imbalance and hypoglycaemia. The infant was under evaluation for prolonged cholestatic jaundice and was considered for Kasai procedure while considering the reduced benefit of surgical correction at this point. Other medical problems included congenital cytomegalovirus (CMV) infection, dilated left ventricle and myocarditis for which he was on ganciclovir and anti-heart failure regimen. On examination, the infant was pigmented, mildly jaundiced without associated pallor or hepatomegaly and had normal external genitalia with pigmented scrotal sacs.

Results: Biochemistry revealed direct hyperbilirubinaemia with mildly raised liver enzymes and a normal coagulation profile. Ultrasound abdomen did not reveal a gall bladder and the 99-Technetium HIDA scintigraphy revealed findings compatible with biliary atresia. A standard dose synacthen test produced cortisol levels of 9.5 nmol/l, 4.5 nmol/l and 3.3 nmol/l at 0 minutes, 30 minutes and 60 minutes respectively, and a normal 60-minute 17-hydroxyprogesterone level (3.87 nmol/l). Plasma renin concentration was elevated (> 1000 mU/L). The thyroid function test was mildly deranged (TSH 10mIU/L) with a normal thyroid ultrasound. Following the commencement of hydrocortisone, direct hyperbilirubinaemia improved but liver enzymes worsened for which liver failure regimen was commenced. Repeat abdominal ultrasound and 99-Technetium HIDA scintigraphy 6 weeks later revealed a normal gall bladder and a normal hepatobiliary study.

Conclusion: A clinical diagnosis of congenital adrenal hypoplasia was made and genetic confirmation was not feasible. Adrenal insufficiency can present with severe neonatal hepatitis and mimic biliary atresia, and should always be excluded in a neonate with prolonged cholestatic jaundice and can prevent unnecessary complex surgery.