Sonographic findings in type I glycogen storage disease

Carlo Pozzato, Anna Botta, Chiara Melgara, Laura Fiori, Maria Lorella Giann, Enrica Riva

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)456-461
Number of pages6
JournalJournal of Clinical Ultrasound
Issue number8
Publication statusPublished - 2001


  • Kidney
  • Liver
  • Type I glycogen storage disease
  • Ultrasonography

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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