THE DEFECT IN HURLER AND HUNTER SYNDROMES, II. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATION

Cultured fibroblasts, derived from patients with the Hurler and Hunter syndromes, show defective degradation of sulfated mucopolysaccharide. The aberrant metabolism of Hurler cells can be corrected by secretions of fibroblasts of genotype other than Hurler, and similarly, the defect of Hunter cells can be corrected by secretions of fibroblasts of genotype other than Hunter. The active factors in these secretions, which are heat labile and associated with macromolecules, accelerate the degradation of mucopolysaccharide.     

Mitral insufficiency following myocardial infarction.

Severe mitral insufficiency following myocardial infarction in 15 patients is reported. The mean interval from infarction to surgery was 2.8 years. All patients were operated on with mitral valve replacement and in 14 aortocoronary bypass and/or resection of left ventricular aneurysm was necessary as well. Rupture of one or more heads of the papillary muscle was found in 5 patients. In another 5 the papillary muscles were discoloured, fibrosed and shortened, and in the last 5 patients the mitral incompetence was caused by a marked dilatation of the atrioventricular ring. Five patients (33%) died, 3 early and 2 late after surgery. All the patients who died had a markedly imparied left ventricular function pre-operatively with end-diastolic pressures from 15 to 26 mmHg.     

Acromesomelic dwarfism: Manifestations in childhood

Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.