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疫苗后急性播散性脑脊髓炎作为 15 个月大婴儿染色体 22q11.2 缺失综合征的首发表现:病例报告。

Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: a case report.

机构信息

Department of Pediatrics, University of Messina, Messina, Italy.

Department of Human Pathology, University of Messina, Messina, Italy.

出版信息

Vaccine. 2014 Sep 29;32(43):5552-4. doi: 10.1016/j.vaccine.2014.08.047. Epub 2014 Aug 30.

Abstract

We describe a case of a 15-month-old female child admitted to our hospital because of fever, rash, neurological signs (oscillation between states of irritability and drowsiness), palpebral edema and drooping eyelid, appeared 10 days after the vaccination for measles, mumps and rubella. Brain MRI images showed multiple bilateral hyperintense lesions in the white matter typical of acute disseminated encephalomyelitis (ADEM), an autoimmune demyelinating disorder with inflammatory lesions of the central nervous system, due to viral antigens or vaccines. In the mean time, because of patient's vague phenotypic manifestations, suggestive of a genetic defect, array comparative genomic hybridization was carried out which showed the presence of a microdeletion 22q11.21, linked to the DiGeorge syndrome. Our case suggests that pediatric cases of post-vaccination ADEM, in which neurological signs persist, should be investigated for genetic phenotypical features, in order to exclude the presence of a genetic syndrome or disease.

摘要

我们描述了一例 15 个月大的女性患儿,因发热、皮疹、神经系统症状(烦躁与嗜睡之间波动)、眼睑水肿和眼睑下垂而入院,该患儿在接种麻疹、腮腺炎和风疹疫苗后 10 天出现上述症状。脑部 MRI 图像显示多发性双侧白质高信号病变,符合急性播散性脑脊髓炎(ADEM)的典型表现,这是一种中枢神经系统炎症性脱髓鞘疾病,由病毒抗原或疫苗引起。同时,由于患儿的表型表现模糊,提示存在遗传缺陷,我们进行了 array comparative genomic hybridization 检查,结果显示存在 22q11.21 微缺失,与 DiGeorge 综合征相关。我们的病例提示,对于持续存在神经系统症状的疫苗接种后 ADEM 儿科病例,应进行遗传表型特征检查,以排除遗传综合征或疾病的存在。

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