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

[A case of Morquio's syndrome with long survival time]

FOGARI, ROBERTO;
1983-01-01

Abstract

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
1983
(area 06) The General & Internal Medicine category covers resources on medical specialties such as general medicine, family medicine, internal medicine, clinical physiology, pain management medicine, geriatric medicine, military medicine, and hospital medicine.
Sì, ma tipo non specificato
Italiano
Nazionale
STAMPA
74
41
2485
2490
5
info:eu-repo/semantics/article
262
Cancarini, M; Fogari, Roberto; Zoppi, A; Rogledi, D; Finardi, G.
1 Contributo su Rivista::1.1 Articolo in rivista
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/438380
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