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Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase deficiency (MCADD; McKusick 201450) typically presents in the first two years of life with recurrent episodes of hypoketotic hypoglycaemia, lethargy, coma, or sudden infant death. The trigger may be fasting, intercurrent infections, anaesthesia, or surgery. Incidence in the UK is estimated at 0.45–1/10 000 live births.1 We describe the case of a child who presented with marked encephalopathy unexplained by perforated duodenal ulcer, which led to the diagnosis of MCADD.

A 2 year old girl presented with a three week history of coryzal symptoms and three day history of frequent coffee ground vomiting. She was shocked, and had hepatomegaly and decreased conscious level. Blood glucose was 3.9 mmol/l (reference interval 3.3–5.5), …