[A case of Morquio's syndrome with long survival time].
A long-surviving clinical case of suspected Morquio's syndrome is described. The locomotorium (vertebral dwarfism, hyphoscoliosis, but no hypoplasia of the odontoid process of the epistropheus, platyspondylia), cardiopulmonary (aortic insufficiency, arterial calcification, varices) visual (opaque lens on right eye, sclerosis of the lenticular lamellae but no corneal opacity on left eye) acoustic (deafness) and gastroenteric systems (hepatomegaly) are analysed. No pathological granulations were noted in the leukocytes. The plasmatic lysosome enzymes were normal and alpha-fucosidase subnormal. Abnormal keratan sulphate secretion was noted in the daily urine. All this would explain the patient's long survival.
D000328:Adult; D001022:Aortic Valve Insufficiency / Q000209:etiology; D003594:Cytoplasmic Granules; D006025:Glycosaminoglycans / Q000652:urine; D006337:Heart Murmurs; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007962:Leukocytes / Q000166:cytology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000401:mortality / Q000473:pathology*; D013131:Spine / Q000002:abnormalities; D013909:Thorax / Q000002:abnormalities
D006025:Glycosaminoglycans
Un caso di sindrome di morquio a lunga sopravvivenza.