Near normalization of adolescent height with growth hormone therapy in very short children without growth hormone deficiency.

Ten prepubertal children with stature at or below the 1st percentile for height and without growth hormone deficiency received 0.3 U recombinant growth hormone per kilogram daily for 2 years before puberty. Their growth velocity increased from 4 +/- 0.3 cm/yr before treatment to 10.7 +/- 0.6 and 8.8 +/- 0.6 cm, respectively, during the first and second years of treatment, and then remained at 5.7 +/- 0.7 cm the year after the end of growth hormone administration. This resulted in a near normalization of adolescent height. Bone maturation paralleled chronologic age, and therefore the expected final height of the children increased by approximately 10 cm. Administration of growth hormone induced a reversible hyperinsulinemia, with moderate and transient changes in glucose metabolism. A prospective, randomized study, including an untreated cohort, will be needed to confirm the effects on final height and to determine the magnitude of the response in familial short stature.

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.

An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia. At the time of the acute episode and after ingestion of a medium-chain triglyceride load, one of them excreted large amounts of abnormal metabolites derived from the omega- and (omega-1)-oxidation of medium-chain fatty acids. Medium-chain acyl-CoA dehydrogenase activity was lower than 20% of control values in fibroblasts from both patients. This enzyme defect should be considered in children with a Reye-like syndrome with these distinctive manifestations.

Insulin pump therapy in young children with type 1 diabetes.

Six 17- to 53-month-old diabetic children had marked metabolic instability characterized by chronic hyperglycemia and frequent or severe hypoglycemia with conventional management that included twice daily insulin injections, diet, and home blood glucose monitoring. Because of the metabolic instability, all were given continuous subcutaneous insulin infusions (CSII) via portable externally worn infusion pump. During 6 months of CSII, there was marked improvement: hemoglobin A1 decreased from 192% +/- 8% (SD) to 152% +/- 31% of the normal mean (P less than 0.02), and hypoglycemic episodes decreased in both severity and frequency. CSII was incorporated into the children's treatment with no appreciable adverse psychologic effects or interference with normal activities. CSII, under carefully controlled clinical conditions, may be of benefit in some preschool children with unacceptable metabolic control of diabetes mellitus.

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

Two sisters developed severe hypoglycemia at 8 months of age, resulting in death in one of them. Metabolic studies of the second revealed decline of blood glucose concentration and low plasma ketone body values during a 20-hour fast, both reversed by administration of medium-chain triglycerides. Carnitine palmitoyl transferase activity was absent in the liver extract of the patient; lack of this enzyme impairs long-chain fatty acid oxidation and ketogenesis. Failure of gluconeogenesis could result from decreased production of acetyl-CoA and NADH.