Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency.
OBJECTIVE
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.
Moraru
Evelina
E
2nd Clinic of Pediatrics, Sf. Maria Emergency Hospital for Children, Str. Vasile Lupu 62, Iasi, Romania. emoraru@iasi.mednet.ro
Cuvinciuc
Oana
O
Antonesei
Luiza
L
Mihaila
Doina
D
Bozomitu
Laura
L
Rusu
Tania
T
Stana
Bogdan
B
Sacaci
Paula
P
Luchian
Ana
A
Bratu
Livia
L
Popescu
Alice
A
Mircan
Ozkan
O
Moraru
Dan
D
D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D016896:Treatment Outcome