Late Diagnosis of Lateral Meningocele Syndrome in a 55-Year-Old Woman With Symptoms of Joint Instability and Chronic Musculoskeletal Pain
Late Diagnosis of Lateral Meningocele Syndrome in a 55-Year-Old Woman With Symptoms of Joint Instability and Chronic Musculoskeletal Pain
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DOI：
10.1002/ajmg.a.36301
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发表时间：
2014-02-01
影响因子：
2
通讯作者：
Grammatico, Paola
中科院分区：
文献类型：
--
作者：
Castori, Marco;Morlino, Silvia;Grammatico, Paola
外侧脊膜膨出综合征（LMS）是一种罕见的遗传性结缔组织疾病，其特征是全脊髓脊膜膨出，特定的面部畸形，骨骼和软组织异常，以及张力减退和/或肌无力。在11例患者中观察到LMS，其中2例为垂直传播，7例为散发病例，诊断时年龄为25个月至33岁。我们报告进一步观察LMS在一个55岁的妇女提出了一个长期的历史关节不稳定，慢性肌肉骨骼疼痛，医源性膀胱和肛门直肠功能障碍，由于不可逆的神经损伤手术切除脑膜囊肿。她的临床特征与以前报道的患者，以及另外两个最初诊断为Hajdu-Cheney和Ehlers-Danlos综合征的病例进行了比较，但显示出LMS的典型特征。(c)2013 Wiley Periodicals，Inc.
Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on a further observation of LMS in a 55-year-old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision of a meningeal cyst. Her clinical characteristics are compared with those of previously reported patients, as well as two further cases originally diagnosed with Hajdu-Cheney and Ehlers-Danlos syndromes, but displaying typical features of LMS. (c) 2013 Wiley Periodicals, Inc.