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  1. Home /
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  3. Vol 41 No 1 (2010) /
  4. Case Report

Glycogen storage disease: report of two cases in the city of Cartagena

  • Abstract

Abstract

Objective: to report two cases of children with type Ia glycogen storage disease compatible with Von Gierke disease, suspected in the presence of findings such as hepatomegaly, nephromegaly, hypoglycemia, and stunted growth.
Method: Presentation of the clinical records of two patients referred to the diagnostic unit of innate errors of metabolism of the Faculty of Medicine in Universidad de Cartagena.
Results: The first case reported was a child who debuted with acute cyanosis without widespread neurological deficit when he was eleven months old, followed by hepatomegaly at two years of age. At 4 years of age, symptoms reappeared with similar characteristics: hypoglycemia, growth failure, and persistent hepatomegaly detected on physical examination. With the precedent that an older brother that presented similar symptoms was suspected of glycogen storage disease, a biopsy was performed and confirmed liver glycogen storage with normal structure. The patient’s treatment was modification of dietary habits (small, frequent feedings during the day) and cornstarch. The second event was the older brother who consulted for the first time when he was 18 months old due to prolonged diarrhea. Hepatomegaly was documented by ultrasound study without kidney compromise and no hypoglycemia was found.
Recommendations: It is necessary for the entire health team to be trained to detect rare diseases such as glycogen storage disease. If they make early diagnoses and establish support groups for interdisciplinary management of such diseases, they may change the prognosis and quality of life of these children.

Authors

  • Ciro C. Alvear Universidad de Cartagena
  • Miriam Barboza Universidad de Cartagena
  • Zeudy K. Rodríguez Universidad de Cartagena

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Submitted
2010-09-06
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How to Cite
Alvear, C., Barboza, M., & Rodríguez, Z. (1). Glycogen storage disease: report of two cases in the city of Cartagena. Colombia Médica, 41(1), 76-81. https://doi.org/10.25100/cm.v41i1.688
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Issue
Vol 41 No 1 (2010)
Section
Case Report

The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use

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