Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.

Abstract

BACKGROUND AND STUDY AIMS:

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability.

PATIENTS AND METHODS:

We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt.

RESULTS:

Eighteen patients (58%) were males. Their ages ranged between 6 months to 12 years. The main presenting complaint was progressive abdominal distention in 55%. Twelve patients (38.7%) had a history of recurrent attacks of convulsions; four had an erroneous diagnosis of hypocalcaemia and epilepsy. Doll-like facies was noted in 90%. Abdominal examination of all cases revealed abdominal distention and soft hepatomegaly which had bright echogenicity by ultrasound. Hypertriglyceridaemia was present in 93.6%, hyperlactacidaemia in 51.6% and hyperuricaemia in 19.4%. Liver biopsy showed markedly distended hepatocytes with well distinct cytoplasmic boundaries and 32% had macrovesicular fatty changes. Serum creatine kinase was elevated in 64.6% of patients and correlated positively and significantly with age (r=0.7 and P=<0.001), while serum triglycerides correlated negatively with age (r=-0.4 and P=0.05).

CONCLUSION:

Blood glucose assessment and search for hepatomegaly in an infant with recurrent seizures may prevent delay in the diagnosis. A huge soft liver reaching the left midclavicular line that appears echogenic on ultrasonography is characteristic of GSD III. A distended hepatocyte with rarified cytoplasm is pathognomonic but not diagnostic. Hypertriglyceridaemia correlates negatively with age, in contrary to CK level.

• Authors: Hanaa El-Karaksy, Ghada Anwar, Mona El-Raziky, Engy Mogahed, Ekram Fateen, Amr Gouda, Fatma El-Mougy, Ahmed El-Hennawy
• Journal: Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology (Arab J Gastroenterol) Vol. 15 Issue 2 Pg. 63-7 (Jun 2014) ISSN: 2090-2387 [Electronic] Egypt
• PMID: 25097048 (Publication Type: Journal Article, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Arab Journal of Gastroenterology. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Triglycerides
• Creatine Kinase

Topics

• Age Factors
• Ascites (etiology)
• Child
• Child, Preschool
• Creatine Kinase (blood)
• Egypt
• Facies
• Female
• Glycogen Storage Disease Type III (blood, complications, pathology)
• Hepatocytes (pathology)
• Hepatomegaly (diagnostic imaging, etiology)
• Humans
• Hyperlactatemia (etiology)
• Hypertriglyceridemia (etiology)
• Hyperuricemia (etiology)
• Infant
• Male
• Seizures (etiology)
• Triglycerides (blood)
• Ultrasonography