Background and aims: To describe the characteristics of patients with type I glycogenosis, the presentation types, the main clinical signs, the diagnostic criteria and also the disease outcomes on long term follow-up.
Methods: The study group consisted of 6 patients (medium age 3 years 6 months) admitted in hospital between 2001 and 2005 and followed-up for 1 to 5 years. The sex ratio was 1:1.
Results: The referral reasons varied from hepatomegaly incidentally discovered (3 of 6 patients) to abdominal pain (4 of 6 patients), growth failure (3 of 6 patients), symptoms of hypoglycemia (3 of 6 patients), recurrent epistaxis (1 patient). Hepatomegaly was present in all cases. Biological profile: hypoglycemia, increased transaminase values, hypertriglyceridemia, lactic acidosis, normal uric acid levels. Two patients had neutropenia and other two had increased glomerular filtration rate. Liver biopsy showed glycogen-laden hepatocytes and markedly increased fat. Four patients had type Ia and 2 patients type Ib glycogenosis. The therapy consisted of: diet, ursodeoxycholic acid, granulocyte colony-stimulating factor, broad spectrum antibiotics for those with type Ib glycogenosis. The follow-up parameters were clinical, biological, imaging. Metabolic interventions and antiinfectious therapy were necessary. All patients are alive, two of them on the waiting list for liver transplantation.
Conclusions: Glycogen storage disease type I is a rare condition, but with possible life-threatening consequences. It has to be kept in mind whenever important hepatomegaly and/or hypoglycemia are present.