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Endocrine Abstracts (2016) 45 P24 | DOI: 10.1530/endoabs.45.P24

Diana Princes of Wales Hospital, Grimsby, UK.

Mauriac syndrome is a rare complication of poorly controlled type 1 diabetes (T1D) characterized by growth failure, hepatomegaly, elevated transaminases and cushingoid features. We report a case of an eleven year old boy with Mauriac syndrome.

Case Study: An eleven year old Caucasian boy, known to have T1D from 7 years of age with poor glycaemic control and high HbA1c noted to have abdominal distension with hepatomegaly at his clinic visit. It was also noted that his height centile moved from 9th to 2nd centile. Ultrasound confirmed hepatomegaly. He had raised alanine transaminase and gamma glutamyl transferase, total cholesterol and triglycerides. Autoantibodies, glandular fever screen, ceruloplasmin, alpha 1 antitrypsin, hepatitis, coeliac screen and drug history were negative. His Insulin like growth factor 1(IGF1) was low. A possible diagnosis of Mauriac syndrome was considered. A liver biopsy confirmed Glycogen hepatopathy (GH) and, in the clinical context, that of Mauriac syndrome.

Background: He was born at 35+4 weeks gestation to teenage Caucasian parents. Due to severe neglect and developmental delay, care was taken over by dad and step mum after social services involvement at 1 year of age.

Secondary to difficult childhood he had severe attachment disorder needing mental health input for few years. Early childhood challenges had huge impact on his diabetes management. He was non complaint with his treatment. There were many behavioral issues at school. He expressed several times how he hated his diabetes. He was started on pump therapy. With step-mother’s, diabetes team support his liver function tests normalized following improved glyceamic control.

Discussion: Our case demonstrated hepatomegaly, liver dysfunction, growth faltering and hypercholesterolemia secondary to poorly controlled diabetes. The proposed mechanism of growth delay is decreased glucose in tissues, IGF1 in circulation, and resistance to growth hormone. GH is reversible with improved glycaemic control.

Conclusions: Increased awareness of GH in clinicians will prevent delay in diagnosis and management. Our case highlights the importance of growth monitoring, focused examination in diabetes follow up. Health-care encounters should focus regularly on challenges in daily lives which can significantly affect management of diabetes.


Volume 45

44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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