No abstract

Glycogen storage disease type III (GSD III) due to debranching enzyme deficiency presenting usually with hepatomegaly and hypoglycemia may be responsible for severe cardiomyopathy which is often fatal. Current treatment of GSD III is based on frequent high-carbohydrate meals that have no effect on the cardiomyopathy. We describe a 2-mo-old infant presenting with a familial form of GSD III complicated with cardiomyopathy. As conventional treatment was unable to improve his sister's cardiomyopathy who was deceased at age 11 mo, we proposed an experimental treatment combining the use of synthetic ketone bodies (D,L-3-OH butyrate) as an alternative energy source, 2:1 ketogenic diet to reduce glucose intake and high-protein diet to enhance gluconeogenesis. Twentyfour months after the onset of this treatment, echocardiography showed an improvement of cardiomyopathy. Growth and liver size remained normal, and no side effects were observed. Blood glucose levels remained within the normal range and insulin levels decreased. These findings show that synthetic ketone bodies as well as lowcarbohydrate, high-lipid, and high-protein diet may be a more beneficial therapeutic choice therapeutic choice for GSD III patients with cardiomyopathy. These encouraging data need to be confirmed in more GSD III patients presenting with cardiac or muscular symptoms. (Pediatr Res 70: 638-641, 2011)

No abstract

To evaluate the ambulatory management of ileo-colic intussusception in infants and children, a retrospective study over 3 years of 113 children treated for ileo-colic intussusception in a paediatric emergency department was undertaken with the aim of shortening the length of stay. A total of 113 children aged 10 days to 9 years (median 12 months) were treated for intussusception between January 1993 and December 1996. None had septic shock or peritoneal aeric effusion. Barium enema reduction was attempted in all patients. Successful reduction rate was 81%. Fifty patients (44.2%) were completely ambulatory managed and 42 were hospital-supervised after successful enema reduction. Twenty-one children underwent laparotomy after failure of enema. With the ambulatory device, costs were reduced ($1000/case) compared with conventional in-patient treatment. Outpatient treatment of acute ileo-colic intussusception is secure and reduces costs. It depends on the willingness of the medical team but requires simultaneous adaptation of hospital funding to promote this trend.