HEPATIC ULTRASOUND FINDINGS IN THE GLYCOGEN-STORAGE DISEASES

Hepatic ultrasonography was performed on 70 patients with the hepatic glycogen storage diseases (GSDs) to assess parenchymal echogenicity. 2 7 patients had GSD-I, 24 had GSD-III and 19 had GSDs-VI/IX; ages varie d from 0.6 to 35.7 years (median 11.7), 31 (44%) had normal or mild pa renchymal changes, and 41% (11/27) of those with GSD-I, 25% (6/24) wit h GSD-III and 11% (2/19) with GSDs-VI/IX had marked changes. No relati onships were found between the ultrasonographic appearances and other indices of metabolic control, including plasma triglycerides, total ch olesterol or height standard deviation score. Seven adult patients (21 -29 years) were found to have hepatic tumours: six with GSD-I and one with GSD-III. Those with GSD-I and tumours tended to have the more sev ere hepatic parenchymal changes. We conclude that ultrasonography may be useful in identifying patients with GSD-I at risk of hepatic tumour formation.