Torii Ikuko, Morikawa Shigeru, Tanaka Junichi, Takahashi Junko
Department of Pathology, 1st Unit, Shimane Medical University, Izumo-city, Shimane, Japan.
Pediatr Pathol Mol Med. 2002 Sep-Oct;21(5):467-76. doi: 10.1080/15227950290104797.
An infant with multiple joint ankyloses, facial anomalies, and pulmonary hypoplasia, features similar to the phenotype of Pena-Shokeir syndrome, was examined at autopsy. Histological examination of the skeletal muscles revealed many small muscle fibers in a mixed, not group, distribution, although the structure of them was normally arranged. Histochemical assessment of adenosine triphosphatase (ATPase) activity of the iliopsoas muscle demonstrated the failure of the differentiation into type I fibers and the retardation of the skeletal muscle. At the same time, severe pulmonary hypoplasia, which was the likely cause for the retardation of the respiratory system, was found. In contrast to these numerous pathologic changes in the skeletal muscles, no significant abnormalities were observed in the central nervous system except for a somewhat immature external appearance; however, an examination of the spinal cord could not be carried out. Overall, this pattern of pathology suggests the possibility that developmental disorders of the mesenchyme are the primary contributors to the pathogenesis of Pena-Shokeir syndrome, while the immaturity of the central nervous system is involved to a lesser degree.
对一名患有多关节强直性脊柱炎、面部畸形和肺发育不全（这些特征与佩纳 - 肖克综合征的表型相似）的婴儿进行了尸检。骨骼肌的组织学检查显示，许多小肌纤维呈混合分布而非成组分布，尽管其结构排列正常。对髂腰肌的三磷酸腺苷（ATPase）活性进行组织化学评估发现，其未能分化为I型纤维且骨骼肌发育迟缓。与此同时，发现了严重的肺发育不全，这可能是呼吸系统发育迟缓的原因。与骨骼肌中的这些众多病理变化形成对比的是，除了外观略显不成熟外，中枢神经系统未观察到明显异常；然而，未能对脊髓进行检查。总体而言，这种病理模式表明，间充质发育障碍可能是佩纳 - 肖克综合征发病机制的主要因素，而中枢神经系统的不成熟在其中所起的作用较小。
