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The infantile form of Pompe disease drives children to death before the first year of life due to cardiomyopathy and respiratory insufficiency. We present the seven-year follow-up experience with enzyme replacement therapy on a child with Pompe disease, being the longest follow-up in the country. The treatment was well tolerated without adverse reactions. The echocardiographic and electrocardiographic parameters clearly improved during the first year and remain stable. Motor milestones (like rolling over or sitting down without support) were initially achieved, but, after the third year were getting lost. The average age of ventilator dependence was also delayed (16 months). The 7-year old patient remains alive with severe generalized muscle weakness. The child notably overcame the average age of survival and onset of ventilator dependence. Although the cardiovascular improvement was clear, enzyme replacement therapy efficacy on skeletal muscle was limited in this patient.

Background: Acarbose, an alpha glucosidase inhibitor is a drug used in the treatment of non insulin dependent diabetes mellitus, that interferes with the intestinal absorption of monosaccharides., Aim: To study the effect of acarbose in non insulin dependent diabetic patients that had an inadequate metabolic control with diet and sulphonylureas., Patients and Methods: Diabetic patients received acarbose, 150 mg/day during four weeks and this dose was increased to 300 mg/day during 3 months. Afterwards, patients were followed for a period of 12 weeks without acarbose. Fasting and post-prandial blood glucose and glycosilated hemoglobin were measured sequentially during the study., Results: Eighty five patients were recruited for the study but 64 complied with the treatment protocol. The age of these patients was 56 +/- 8.8 years old, their diabetes duration was 7.8 +/- 8.8 years and their body mass index was 27.6 +/- 3.6 kg/m2. During acarbose treatment, glycosilated hemoglobin decreased from 8.36 +/- 1.33 to 7.71+ 1.7% (p < 0.001), fasting blood glucose decreased from 173 +/- 48 to 159 +/- 59 mg/dl (p < 0.03) and post-prandial blood glucose decreased from 254 +/- 80 to 241 +/- 80 mg/dl (NS). After discontinuing acarbose glycosilated hemoglobin and blood glucose levels returned to basal levels. Body weight and blood pressure did not change during the treatment period. Fifty nine patients had gastrointestinal symptoms (meteorism, flatulence and abdominal distention) that were mild in 59% and moderate in 39%. Episodes of hypoglycemia were not observed., Conclusions: Acarbose, associated to sulphonylureas is an effective drug to reduce blood glucose and glycosilated hemoglobin levels in patients with non insulin dependent diabetes.