Santoro L, Marmo C, Gasparo-Rippa P, Toscano A, Sadile F, Barbieri F
Department of Clinical Neurophysiology, 2nd School of Medicine, University of Naples, Italy.
Clin Neuropathol. 1989 Mar-Apr;8(2):69-71.
A new case of congenital, hypotonic-sclerotic muscular dystrophy is presented. The patient showed congenital hyperlaxity and looseness of distal joints, muscle weakness, and spur-like protrusion of the calcaneus. Afterwards rapid progressive contractures of both knees and hip joints developed. Muscle biopsies revealed unequivocal dystrophic abnormalities and small atrophic fibers with numerous foldings of basal lamina suggestive of a neurogenic lesion. The disease presents clinical variability but the diagnosis is possible when a newborn shows: no dominant family history, slender body, marked distal joint laxity and hyperflexibility, proximal joint contractures and normal or slightly increased serum enzymes.
本文报告了一例先天性低张性硬化性肌营养不良的新病例。患者表现为先天性远端关节过度松弛、肌肉无力以及跟骨骨刺样突出。随后双膝关节和髋关节迅速出现进行性挛缩。肌肉活检显示明确的营养不良性异常以及小的萎缩纤维，基底膜有大量折叠，提示神经源性病变。该疾病临床表现具有变异性，但当新生儿出现以下情况时可作出诊断：无显性家族史、体型消瘦、明显的远端关节松弛和过度灵活性、近端关节挛缩以及血清酶正常或轻度升高。
