Ullrich's Disease 1례

A Case of Ullrich's Disease

저자들은 영아초기부터 시작된 전반적인 발달 지연과 근력저하를 주소로 본원에 내원하여 신체검사상 근위부 관절의 조기구축과 원위부 관절의 과신전을 보였고 근전도 검사상 근병증의 소견을 보이고 근생검상 dystrophin의 발현은 정상이면서 특징적인 퇴행위축의 소견을 보여 Ullrich병으로 진단 받은 환자 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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 associated 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 VIα2 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.