Summary:
Glycogen storage disease(GSD) are a group of disorders
caused by lack of enzymes involved in glycogen synthesis
or breakdown with buildup of glycogen in tissue. The
incidence of glycogen storage disease (GSD) is not
uncommon in paediatric population. We report the case of
a twelve year old boy of glycogen storage disease who
presented with gradual abdominal distension since his two
years of age and two episodes of epistaxis. There was no
history of jaundice, blood transfusion, convulsion, contact
with TB patient, travelling to malaria or kala azar endemic
zone or deterioration of school performance. On
examination, he was mildly pale, stunted and had gross
hepatosplenomegaly. The single positive lab investigation
in this case was increased triglyceride and the final diagnosis
was made by liver biopsy. After diagnosis, treatment was
provided by counseling and appropriate feeding advice. This
case is being reported because this type of presentation with
gross hepatosplenomegaly without a single episode of
convulsion is unusual in glycogen storage disease, and the
age of presentation is also late.
(J Banagladesh Coll Phys Surg 2015; 33: 48-51)