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CASE REPORT
Year : 2019  |  Volume : 26  |  Issue : 2  |  Page : 138-141

First report of glycogen storage disease type 111a in a Nigerian child


1 Department of Paediatrics and Child Health, Lagos State University College of Medicine, Lagos, Nigeria
2 Department of Paediatrics and Child Health, Lagos State University Teaching Hospital, Lagos, Nigeria
3 Department of Clinical Biochemistry, National Liver Institute, Menoufia University, Menoufia, Egypt
4 Department of Paediatrics, National Liver Institute, Menoufia University, Menoufia, Egypt

Correspondence Address:
Dr. Idowu O Senbanjo
Department of Paediatrics and Child Health, Paediatrics Gastroenterology/Hepatology/Nutrition Unit, Lagos State University College of Medicine, PMB 21266, Ikeja, Lagos
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/npmj.npmj_17_19

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Glycogen storage disease (GSD) is a rare inborn error of metabolism with an incidence of 1/20,000–40,000 live births. Some of the presenting clinical features can mimic diseases commonly seen in the tropics and subtropics. We report a 14-month-old Nigerian child who presented at our institution with GSD Type 111a to alert physicians on the need to consider and recognise this rare disorder. The child presented with progressive abdominal swelling due to marked hepatomegaly. From the clinical history, the only clue to hypoglycaemia was that she eats very frequently. Her random blood sugar was normal; however, fasting blood sugar was low. The diagnosis was further entertained with laboratory results showing hypercholesterolaemia and uricaemia and confirmed by histology of biopsied liver tissue. GSD should be suspected in a child with unexplained hepatomegaly and investigated accordingly.


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