Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency.

ABSTRACT

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 11. 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.