一例戴克-大卫杜夫-马森综合征并发肾发育不全:不寻常的关联

Pub Date : 2023-10-01 Epub Date: 2023-12-08 DOI:10.4103/ijabmr.ijabmr_189_23
Prem Shankar Patel, Amresh Krishna, Archana, Om Kumar
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引用次数: 0

摘要

戴克-戴维多夫-马森综合征(DDMS)是一种罕见的儿童神经-骨质综合征,是大脑半萎缩、面部不对称、癫痫发作、骨质改变和偏瘫的综合征。它通常表现为癫痫发作和偏瘫。除了一篇描述 DDMS 患者异位肾脏的病例报告外,现有文献对 DDMS 患者的肾脏受累情况尚不清楚。我们报告了一例 15 岁男孩的病例,他出现反复癫痫发作、右侧面瘫、左侧偏瘫和晚期肾功能衰竭。神经影像学检查发现他右侧大脑弥漫性萎缩,同侧侧脑室扩张,同侧小脑增厚。肾脏评估显示,诊断为慢性肾脏病 VD 期,可能是继发于先天性肾发育不全。
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A Case of Dyke-Davidoff-Masson Syndrome with Hypoplasia of the Kidney: An Unusual Association.

Dyke-Davidoff-Masson syndrome (DDMS) is a rare neuro-osteal syndrome of childhood and a constellation of cerebral hemiatrophy, facial asymmetry, seizures, osseous changes, and hemiplegia. It commonly presents with seizures and hemiplegia. The involvement of the kidney in DDMS is not known in the available literature, except in a case report that described ectopic kidney in DDMS. We present the case of a 15-year-old boy who presented with recurrent seizures, right facial palsy, left hemiparesis, and advanced renal failure. The neuroimaging revealed diffuse right cerebral atrophy, dilatation of the ipsilateral lateral ventricle, and ipsilateral thickening of the calvaria. The nephrological evaluation suggested the diagnosis of chronic kidney disease stage VD, probably secondary to congenital hypoplasia of the kidney.

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