A Case of Ullrich's Disease / 대한소아신경학회지

ABSTRACT

Ullrich's disease is a congenital muscular dystrophy clinically characterized by generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. All the patients develop rigidity of spine, often assoicated with scoliosis, failure to thrive, and early and severe respiratory involvement, irrespective of their levels of motor function. Intellectual development is normal. The biopsied muscles show dystrophies including remarkable variation in the fiber size, notably proliferated endomysial connective tissues, and a lot of degenerated and regenerated fibers. The expression of merosin and dytrophin is normal. Recent studies have demonstrated that collagen VI is deficient in the muscles of the patients with Ullrich's disease, and some result from recessive mutations of the collagen VIalpha 2 gene(COL6A2). And a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients is also reported. These results suggest that collagen VI deficiency may lead to the reduction of fibronectin receptors and that any abnormalities of cell adhesion may be involved in the pathogenesis of the disease. A case of Ullrich's disease has not been reported yet in Korea. So, we describe a male patient with Ullrich's disease with a brief review of the literature.