Shintaku Masayuki, Wada Kyosuke, Koyama Takashi, Kohno Hiroaki, Sakamoto Takeshi, Hida Shinya
Department of Pathology, Osaka Red Cross Hospital, Osaka, Japan.
Clin Neuropathol. 2013 Jan-Feb;32(1):51-7. doi: 10.5414/NP300498.
Klippel-Feil syndrome is an uncommon congenital anomaly that is characterized by abnormal fusion of the cervical vertebrae and occasionally accompanied by various anomalies of other bones and internal organs. We report the autopsy case of a 5-year-old girl with this syndrome ssociated with congenital cervical dislocation, with special reference to the pathological findings of the vertebral column and spinal cord. Principal anomalies of the cranio-spinal axis were as follows: partial defect of the clivus, scoliosis, hypoplasia of the whole cervical vertebrae, anterior dislocation of C7 with S-shaped deformity of the spinal canal, fusion of the spinous processes of the cervical and thoracic vertebrae, fusion of the vertebral bodies of C6 and C7 with collapse of C7, and spina bifida occulta of L5 and S1. In addition to these skeletal anomalies, subarachnoid vascular malformation in the medulla oblongata, a bronchogenic cyst in the posterior mediastinum, anomalous lobation of the lungs, and the mobile cecum were found at autopsy. The cervical cord showed an increase of the antero-posterior diameter, multifocal spongy changes of the white matter, and partial branching or duplication of the central canal. The brain showed features of anoxic encephalopathy. The partial defect of the clivus, C7 dislocation, and various lesions of the medulla oblongata and cervical cord were interpreted as integral components of, or lesions closely associated with, Klippel-Feil syndrome.
克-费综合征是一种罕见的先天性异常，其特征为颈椎异常融合，偶尔伴有其他骨骼和内脏的各种异常。我们报告一例5岁患有该综合征并伴有先天性颈椎脱位的女童尸检病例，特别提及脊柱和脊髓的病理发现。颅-脊柱轴的主要异常如下：斜坡部分缺损、脊柱侧弯、全颈椎发育不全、C7向前脱位伴椎管呈S形畸形、颈椎和胸椎棘突融合、C6和C7椎体融合伴C7塌陷以及L5和S1隐性脊柱裂。除了这些骨骼异常外，尸检还发现延髓蛛网膜下血管畸形、后纵隔支气管源性囊肿、肺叶异常分叶以及游动盲肠。颈髓显示前后径增加、白质多灶性海绵状改变以及中央管部分分支或重复。脑部显示缺氧性脑病的特征。斜坡部分缺损、C7脱位以及延髓和颈髓的各种病变被解释为克-费综合征的组成部分或与之密切相关的病变。
