Ullrich型先天性肌营养不良三例临床及病理特点

目的 探讨Ullrich型先天性肌营养不良(UCMD)患者的临床和病理特点.方法 收集并分析我院收治的3例UCMD、2例Duchenne型肌营养不良(DMD)和1例先天性肌营养不良1A型的临床和病理资料.全部患者均进行肌肉活体组织检查,并对标本行组织化学和免疫组织化学染色,其中2例UCMD和1例DMD患者的标本行免疫荧光染色.结果 UCMD患者均以新生儿肌张力低下为首发表现,其临床标志为近端关节挛缩和远端关节弹性过度.组织化学染色提示UCMD患者存在肌纤维发育不良伴结缔组织增生,坏死和变性不及DMD患者显著.抗Ⅵ型胶原抗体免疫组织化学染色显示3例UCMD患者中1例为完全缺失,2例仅为部分缺失.免疫荧光染色能更清晰地显示Ⅵ型胶原的部分性缺失.结论近端关节挛缩和远端关节弹性过度是UCMD的标志性临床特征.抗Ⅵ型胶原抗体的免疫组织化学染色是确诊UCMD的重要方法 .

Clinical and pathological features in 3 Chinese patients with Ullrich congenital muscular dystrophy

Objective To investigate the clinical and pathological features of Uurich congenital muscular dystrophy (UCMD). Methods The clinical aspects of 3 patients with UCMD, 2 with Duchenne muscular dystrophy (DMD) and 1 with congenital muscular dystrophy 1A (MDC1A) were analyzed. And the muscle specimens from these patients were studied using immunohistochemistry and immunofluorescence staining. Results UCMD was clinically characterized by neonatal hypotonia with proximal contracturos and distal hyperlaxity at birth or early infancy. Histochemical staining revealed muscle frber hypoplasia andinterstitium proliferation. Immunohistochemistry staining with anti-collagen Ⅵ antibody revealed complete(1/3) or partial (2/3) deficiency of collagen Ⅵ in the sarcolemma and interstitial matrix. Partial deficiency was better demonstrated by immunofluorescence staining. Conclusions The proximal contractures and distal hyperlaxity is the clinical hallmark of UCMD. Collagen Ⅵ immunolabelling can confirm the diagnosis of UCMD.