https://pubmed.ncbi.nlm.nih.gov/33106122/ Glycogen storage disease

Trop Doct. 2020 Oct 27;49475520961935.

doi: 10.1177/0049475520961935.Online ahead of print.
Clinical profile and outcome of glycogen storage disease in Indian children
Vishrutha Poojari 1, Ira Shah 1, Naman S Shetty 1, Sonal Mirani 1, Drishti Tolani 1

Abstract

We aimed to determine the clinical profile and outcome of Indian children with glycogen storage disorders. Ours was a retrospective study from 2005 to 2018 in 36 children diagnosed on the basis of a liver biopsy. Most (77.7%) presented with abdominal swelling but a quarter with convulsion, four of whom had documented hypoglycaemia associated, doll-like facies or developmental delay. Diarrhoea was found in four patients, ascites in two and portal hypertension in one. One child died, and over half were unfortunately lost to follow-up, though the rest had recurrent seizures, three more developed neutropenia, two recurrent infections, one portal hypertension with epistaxis, one nephrocalcinosis and liver adenoma. Liver function improved in six (37.5%) with normalisation of triglycerides, and four of serum transaminases.