[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].

Objective: To explore the clinical characteristics and prognosis of infantile-onset glycogen storage disease type II (GSDII) in Chinese patients.

Methods: Sixteen children diagnosed as infantile-onset GSDII in Shanghai Children's Medical Center during Jan 2005 to Dec 2012 were recruited. Their disease history, presenting symptom, physical signs, biochemical tests and examinations of electrocardiogram and echocardiography were analyzed retrospectively. Follow-up data on motor development and survival were also collected and analyzed retrospectively.

Results: 16 cases were diagnosed as infantile-onset GSDII (10 males, 6 females), in which the peripheral blood levels of acidic α-glucosidase were remarkably low or completely absent. All of them were complicated with cardiac hypertrophy and left ventricular mass index was 161-616 g/m(2). Severe muscular weakness, hypotonia and development lag were found in all during the follow-up. Creatine kinase was detected in 15 patients and its level became significantly elevated in 14 of them. Alanine aminotransferase and aspartate aminotransferase were detected in 15 patients and their levels became significantly elevated in all of them. The median age was 3.6 (2.0-6.8) months at symptom onset and 6.5 (3.8-9.3) months at diagnosis. And 14 of them died during the follow-up and the median age at death was 9.0 (4.7-18.7) months.

Conclusions: As a fatal disease, infantile-onset GSDIIhas the prominent clinical manifestations of progressive cardiac hypertrophy and muscular weakness or hypotonia. The clinical features and nature history of Chinese patients are similar as those reported in other countries. Detection of acidic α-glucosidase activity in peripheral blood is an effective way of screening for infantile-onset GSDII.