First report of glycogen storage disease type 111a in a Nigerian child
| Autor: | Idowu O Senbanjo, Moriam O Lamina, Tolulope Kumolu-Johnson, Hala El-Said, Mohamed Abdel Salam El-Guindi |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Nigerian Postgraduate Medical Journal, Vol 26, Iss 2, Pp 138-141 (2019) |
| Druh dokumentu: | article |
| ISSN: | 1117-1936 2468-6875 |
| DOI: | 10.4103/npmj.npmj_17_19 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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