Sonographic findings in type I glycogen storage disease

• Published in: Journal of clinical ultrasound 2001-10, Vol.29 (8), p.456-461
• Main Authors: Pozzato, Carlo, Botta, Anna, Melgara, Chiara, Fiori, Laura, Giannì, Maria Lorella, Riva, Enrica
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Biological and medical sciences; Carbohydrates (enzymatic deficiencies). Glycogenosis; Child; Child, Preschool; Errors of metabolism; Female; Glycogen Storage Disease Type I - blood; Glycogen Storage Disease Type I - diagnostic imaging; Glycogen Storage Disease Type I - pathology; Hepatic Artery - diagnostic imaging; Humans; kidney; Kidney - diagnostic imaging; liver; Liver - diagnostic imaging; Liver - pathology; Male; Medical sciences; Metabolic diseases; Prospective Studies; Spleen - diagnostic imaging; Spleen - pathology; type I glycogen storage disease; ultrasonagraphy; Ultrasonography
• ISSN: 0091-2751; 1097-0096
• DOI: 10.1002/jcu.10008

Purpose The aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen 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 correlated with sonographic findings. Results In 13 (93%), of 14 patients, the liver was enlarged, and in 11 patients (79%), hepatic echogenicity was increased. In 9 patients (64%), both kidneys were enlarged, and in 6 cases (43%), the spleen was enlarged. In all patients, flow in the portal, splenic, and superior mesenteric veins was hepatopetal, 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 association 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 glycogen storage disease, but a liver biopsy is required for a definitive diagnosis. © 2001 John Wiley & Sons, Inc. J Clin Ultrasound 29:456–461, 2001.