C

Recurrent fasting hypoglycaemia together with massive hepatomegaly, abdominal distension and the characteristic “doll-like” facies is the classic presentation of glycogen-storage disease type I (Von Gierke disease) in children, caused by glucose-6-phosphatase deficiency [Raza 2017, PMID 29018645]. Menkes, Down and Lesch-Nyhan syndromes do not produce this specific triad of hepatomegaly, doll face and severe hypoglycaemia.