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KMID : 0378019730160020165
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New Medical Journal
1973 Volume.16 No. 2 p.165 ~ p.170
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Morquio-Brailsfords´s Disease
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李圭五/Lee, Kyu Oh
片英植/姜在道/姜昌洙/Ryun, Yung Sik/Kang, Jae Do/Kang, Chang Su
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Abstract
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One case of Morquio Brailsford´s Disease in a 10 2/12 year-old girl is reported.
Since Morquio and Brallsford described the disease in 1929, it has been a well recognized entity which may be defined as a characteristic growth disorder of cartilage and cartilage derived bone, presumably due to a hereditary metabolic disorder.
Involvement of other tissue and organs is minimal or abscent and intelligence is sometimes mildly impaired, but more often it is normal.
While, undoubtedly, the underlying metabolic disorder is congenital, nearly all children have been described as normal at birth, but there has been a suggestion of the disease at birth in only a few case.
In almost all cases, the first symptoms appear at about the time weight bearing begins by sitting and standing.
The first sign noted is usually a dorsolumbar kyphosis which is most frequent findings. Characteristic findings are dorsolumbar kyphosis, dwarfism and irregular configuration of epiphysis due to abnor￢mality of epiphyseal cartilage growth, and when the disease is matured, diagnosis is relatively easy with sight and X-ray examination because the deformity in well developed cases is so striking.
X-ray findings are alteration in the size and contour of the vertebral bodies which are flat with rough irregular contour and anterior central projection.
Cylindrical bone may be normal in length, but the growth ends of the long bones are broad with irregular zones of provisional calcification and irregularly ossified, flattened epiphyseal center.
The disease process is not affected by many therapy tried so far and orthopedic therapy is limited to the prevention and the correction of the secondary mechanical deformities.
Though life expectancy is better than typical gargoylism, nevertheless, most cases with Morquio´s disease seemed to survive childhood.
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