Case of familial metaphyseal dysplasia (Pyle) associated with idiopathic macular atrophy and demyelinating encephalopathy
Ueda, T.; Umezawa, K.
Nihon Seikeigeka Gakkai Zasshi 37: 197-210
1963
ISSN/ISBN: 0021-5325 PMID: 13995163 Document Number: 8433
There have been very few reports of the familial metaphyseal dysplasia in the past, and to our know ledge, none has ever been reported in Japan. In this paper the twenty-first case of the disease in the world, in a male, sixteen of age, is presented in detail. Roentgenograms taken for the motility disturbance of his extremities as the chief complaint revealed marked clubbing of the metaphysis throughout the long and short bones associated with thinning of the cortex and the diasappearance of the normal trabeculation of the spongy substance bisymmetrically. Compared author's case with that of previous reports, it was concluded that a striking feature of the tibia, characterized by the S-shaped curvature may probably be due to mere appearance on × -ray films rather than the true osteomalacic bone change. Although the detail of the family history of the case is not completely clear, no hereditary relationship seemed to be present. Interesting facts to note in this case are that a rare systemic skin disease, atrophia cutis maculosa idio・ pathica was combined and that the patient had an attack of acute demyelinating encephalopathy recently. It is thought that the familial metaphyseal dysplasia would be due to a combined mal-growth anomaly of the mesoderm and the ectoderm.
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