Two Further Cases of Spondyloenchondrodysplasia (SPENCD) With Immune Dysregulation
Two Further Cases of Spondyloenchondrodysplasia (SPENCD) With Immune Dysregulation
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DOI：
10.1002/ajmg.a.32518
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发表时间：
2008-11-01
影响因子：
2
通讯作者：
Crow, Y. J.
中科院分区：
文献类型：
--
作者：
Navarro, V.;Scott, C.;Crow, Y. J.
虽然脊椎软骨发育不良（SPENCD）的诊断只能在存在特征性干骺端和椎体病变的情况下进行，但最近的报告强调了这种疾病的多效性表现，包括显著的神经系统受累和可变的免疫功能障碍。在这里，我们提出了两个病人，其中之一是出生的近亲的父母，进一步说明了显着的临床频谱这种疾病。虽然这两名患者都表现出颅内钙化，但他们在智力迟钝、痉挛和白色物质异常方面的表现并不一致。虽然一名患者的特征与干燥综合征、多发性肌炎、甲状腺功能减退症和严重硬皮病的诊断一致，但另一名患者的临床表现和自身抗体谱与系统性红斑狼疮一致。这些病例进一步说明了SPENCD与免疫失调的相关性，并强调了与Aicardi-Goutieres综合征和其他与颅内钙化相关的疾病的鉴别诊断。毫无疑问，SPENCD潜在的分子和病理基础的鉴定将为免疫和骨骼调节提供重要的见解。(c)2008 Wiley-Liss，Inc.
Although the diagnosis of spondyloenchondrodysplasia (SPENCD) can only be made in the presence of characteristic metaphyseal and vertebral lesions, a recent report has highlighted the pleiotropic manifestations of this disorder which include significant neurological involvement and variable immune dysfunction. Here we present two patients, one of whom was born to consanguineous parents, further illustrating the remarkable clinical spectrum of this disease. Although both patients demonstrated intracranial calcification, they were discordant for the presence of mental retardation, spasticity and white matter abnormalities. And whilst one patient had features consistent with diagnoses of Sjogren syndrome, polymyositis, hypothyroidism and severe scleroderma, the other patient had clinical manifestations and an autoantibody profile of systemic lupus erythematosus. These cases further illustrate the association of SPENCD with immune dysregulation and highlight the differential diagnosis with Aicardi-Goutieres syndrome and other disorders associated with the presence of intracranial calcification. Undoubtedly, identification of the underlying molecular and pathological basis of SPENCD will provide important insights into immune and skeletal regulation. (c) 2008 Wiley-Liss, Inc.