背景:Klippel-Feil综合征是MauriceKlippel和AndréFeil于1912年描述的一种罕见疾病。它被定义为至少两个椎骨的先天性颈椎融合,与经典的临床症状三联征相关:短颈,后发际线低,和有限的运动范围。然而,Klippel-Feil综合征表现出广泛的表型,从无症状到完全三合会,有或没有其他相关畸形。最常见的是,CCF是由零星突变引起的,即使常染色体隐性遗传,常染色体显性,甚至可以检测到X链接的继承。ATP结合盒亚家族B成员4仅在肝脏中表达,并参与胆汁磷脂的分泌。临床频谱包括各种肝胆疾病,包括低磷脂相关性胆石症,从未与肌肉骨骼异常有关。
方法:一名55岁男性白种人患者出现低磷脂相关性胆石症综合征,伴有ATP结合盒B亚家族成员4突变和肝硬化,被转诊到我们的诊所进行肝移植。六个月前,患者接受T7-T9后路固定治疗T8骨质疏松性骨折.术后,他是四分法的,而在手术前他的神经完好无损.入院时,他仍然是四分症,并表现为颈椎病的临床体征。此外,他在所有方向上的颈椎活动范围受到限制,短脖子,和低后发际线。影像学显示颈胸椎多发椎体融合,以及颈椎狭窄。根据现有数据,我们根据Samartzis分类诊断为3型Klippel-Feil综合征。
结论:KFS的异质性和已知的各种潜在遗传联系表明,强调与已知遗传缺陷相关的所有潜在病例非常重要。目前,ATP结合盒亚家族B成员4突变与先天性宫颈融合之间没有关联的报道.这种情况的另一个重要临床焦点是胸椎手术后自发性四瘫的出现。这一机制尚不清楚,但考虑到不同的脊柱解剖结构,这可能是由于难以插管和病人的定位在他之前的手术。
BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel-Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations. Most commonly, CCF results from sporadic mutations, even though autosomal recessive, autosomal dominant, or even X-linked inheritance can be detected. The ATP-binding cassette subfamily B member 4 is only expressed in the liver and is involved in biliary phospholipid secretion. The clinical spectrum includes various hepatobiliary pathologies, including low phospholipid-associated cholelithiasis, and has never been associated with musculoskeletal anomalies.
METHODS: A 55-year-old male Caucasian patient presenting with low phospholipid-associated cholelithiasis syndrome with ATP-binding cassette subfamily B member 4 mutation and liver cirrhosis was referred to our clinic for a liver transplant. A period of 6 months before, the patient underwent a T7-T9 posterior fixation for a T8 osteoporotic fracture. Postoperatively, he was tetraparetic, whereas he was neurologically intact before the operation. At admission to our hospital, he was still tetraparetic and presented with clinical signs of cervical myelopathy. Moreover, he suffered a limitation of cervical range of motion in all directions, short neck, and low posterior hairline. Imaging showed multiple cervical and thoracic vertebral bodies fusion, as well as cervical spine stenosis. Based on the available data, we diagnosed a type 3 Klippel-Feil syndrome according to Samartzis\' classification.
CONCLUSIONS: The heterogeneity of KFS and the various potential hereditary links that are known indicate that it is important to highlight all potential cases related to known genetic defects. At present, no association between ATP-binding cassette subfamily B member 4 mutation and congenital cervical fusions has been reported. The other important clinical focus of this
case is the appearance of spontaneous tetraparesis after thoracic spine surgery. This mechanism remains unclear, but considering different spinal anatomy it might have been due to difficult intubation and patient\'s positioning during his previous operation.