先天性筋線維タイプ不均等　結合織の異常を認めるＵｌｌｒｉｃｈ症候群の１例

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  • A case of Ullrich Syndrome with Congenital Fiber Type Dysproportion

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A 2-year-6-month-old Japanese boy with Ullrich syndrome was described. Clinical findings included distal dominant generalized muscle weakness and atrophy, acroatonia, contracture of hip joints, scoliosis, arefrexia, high arched palate, prominent calcaneus, and soft and elastic skin. These were consistent with Ullrich syndrome. Electromyographic examination of the left tibialis revealed neurogenic pattern with high amplitude potential of 4 mV. The right quadriceps femoris muscle showed a myopathic changes consisting of variations in the fiber size, and degeneration and redegeration fibers. Type I fiber predominance and hypotrophy were also found. Therefore this patient was diagnosed as having congenitai fiber type disproportion myopathy as well. Biochemical analysis of collagen in the skin revealed that the soluble fraction by pepsin digestion was increased, although the total amount of collagen was reduced, suggesting the presence of immature collagen.

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  • 脳と発達

    脳と発達 14 (6), 586-590, 1982

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

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