Sonographic findings in type I glycogen storage disease

Purpose. The aim of this study was to document the sonographic appearance a nd dimensions of the liver and spleen in patients affected by type I glycog en storage disease and to correlate those findings with laboratory data to evaluate the potential role of sonography in diagnosing that disease. Methods. Fourteen patients (age range, 3-26 years; 10 patients younger than 18 years) with type I glycogen storage disease proved by liver biopsy were studied prospectively with gray-scale sonography, color Doppler sonography , and spectral analysis. The liver, kidneys, spleen, portal system, hepatic veins, and hepatic arteries were evaluated. Laboratory data were correlate d with sonographic findings. Results. In 13 (93%) of 14 patients, the liver was enlarged, and in 11 pati ents (79%), hepatic echogenicity was increased. In 9 patients (64%), both k idneys were enlarged, and in 6 cases (43%), the spleen was enlarged. In all patients, flow in the portal, splenic, and superior mesenteric veins was h epatopetal, and flow in the hepatic veins was triphasic. In 5 patients (36% ), both triglyceride and total cholesterol levels were higher than normal. No focal hepatic lesions were identified. Analysis found no significant ass ociation between sonographic findings and laboratory data. Conclusions. The most frequent sonographic findings in patients with type I glycogen storage disease were hepatomegaly, increased hepatic echogenicity , and enlarged kidneys. Sonography may help in the diagnosis of type I glyc ogen storage disease, but a liver biopsy is required for a definitive diagn osis. (C) 2001 John Wiley & Sons, Inc.