Long-term follow-up of portacaval shunt in glycogen storage disease type 1B

In two girls with glycogen storage disease (GSD) type 1b, terminolateral po rtacaval shunt (PCS) with partial circular resection of the lobus quadratus of the liver was performed at the age of 12 and 10 years, respectively. At that time, the patients had a height of -3.1 and -1.7 SDS, respectively. P CS resulted in a spectacular growth spurt of 35 cm within the first 5 years after surgery in both of them. As first sign of puberty, breast enlargemen t started 2.5 years after PCS in both patients. Improved glucose tolerance was evidenced by increased levels of blood glucose and insulin after PCS. D iet with raw cornstarch (CS), 2 g/kg body weight four times daily, was star ted 8 years after PCS in patient 1, but initiated with nightly gastric feed ing at the age of 2 years in patient 2, 8 years before PCS. Treatment with recombinant granulocyte colony-stimulating factor (rhGCSF), 6 mu g/kg body weight every 36-48 h, was started 20 years after PCS in patient 1, but only 1 month before PCS in patient 2. Progressive development of up to 7-8 live r adenomas was observed after PCS, but without conclusive signs of malignan cy on Ferrit MRI. The PCS is still open 23 and 7 years after PCS, respectiv ely. Terminolateral PCS with partial circular resection of the lobus quadra tus of the liver associated with dietary control and rhGCSF might still hav e a place in the treatment of GSD type 1b because it improves the tolerance to fasting and the quality of life and moreover yields excellent metabolic control. Conclusion TTreatment of glycogen storage disease type 1b by portacaval shu nt might be considered in patients with height-for-age below the 3rd percen tile occurring in spite of dietary control, or before considering liver tra nsplantation which, if necessary, can still be performed after shunt surger y.