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

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.

journal_name

Minerva Med

journal_title

Minerva medica

authors

Cancarini M,Fogari R,Zoppi A,Rogledi D,Finardi G

subject

Has Abstract

pub_date

1983-10-27 00:00:00

pages

2485-90

issue

41

eissn

0026-4806

issn

1827-1669

journal_volume

74

pub_type

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