You are here

Article Text

Article menu
Download PDFPDF
LETTER
Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency
  1. V Kairamkonda1,
  2. M Dalzell1,
  3. P D Losty2,
  4. C Davidson3
  1. 1Department of Gastroenterology, Royal Liverpool Children’s NHS Trust, Alder Hey Children’s Hospital, Liverpool, UK
  2. 2Department of Surgery, Royal Liverpool Children’s NHS Trust, Alder Hey Children’s Hospital
  3. 3Department of Metabolic Medicine, Royal Liverpool Children’s NHS Trust, Alder Hey Children’s Hospital
  1. Correspondence to:
    Dr M Dalzell, Department of Gastroenterology, Royal Liverpool Children’s NHS Trust, Alder Hey Children’s Hospital, Liverpool L12 2AP, UK;
    mark.dalzell{at}rlch-tr.nwest.nhs.uk

https://doi.org/10.1136/adc.88.1.88-a

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    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), …

    View Full Text