Examined for malignant hyperpyrexia (extremely high fever) were serum creatine phosphokinase (enzyme) levels of 27 children from 1-to 17-years-old with Noonan syndrome which is characterized by webbed neck, short stature and low set ears. (CL)

Studied were three unrelated infants with distal renal tubular acidosis (a condition characterized by an inability to acidify the urine to minimal pH levels resulting in the loss of bicarbonates). (DB)

Prenatal monitoring for metachromatic leukodystrophy (a fatal inherited metabolic disorder) suggested that the determination of levels of cerebroside sulfatase in the amniotic fluid helped in the prenatal detection of this disorder. (DB)

Briefly reviewed are varying treatment approaches for the ocular complications associated with diabetes. (CL)

Investigated in 16 persons ages 3 to 23 years with severe cystic fibrosis was the absorption level of digoxin (a lipid soluble medication). (CL)

Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)

Presented are case studies of two children, 2-and 14 years-old, with widely differing manifestations of B-glucuronidase deficiency: one child was severly retarded with multiple anomalies, the other child exhibited milder symptoms with cardiovasculor involvement. (CL)