一名患有 DOCK6 基因突变的新生儿手部出现不完全浅掌弓和坏疽。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL BMJ Case Reports Pub Date : 2024-11-07 DOI:10.1136/bcr-2024-261264
Aisha Naaz, Shahbaj Ahmad, Saikat Patra, Girish Gupta
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引用次数: 0

摘要

由桡动脉和尺动脉分支形成的掌浅弓为手部供血。在掌浅弓不完整的情况下,桡动脉和尺动脉分支无法连接。在掌浅弓不完整的情况下,尺动脉供血受到任何损害都会导致坏疽。这名婴儿的左手出现黑斑和坏疽,主要累及小指、无名指、中指和食指。及时使用抗生素和肝素进行干预后,无名指、中指和食指得以保住,而小指则被自动截肢。在临床外显子组测序中,婴儿被发现患有 DOCK6 基因突变。本病例强调了DOCK6突变累及血管的重要性,以及对不完全浅掌弓病例进行仔细评估和处理的必要性。
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Incomplete superficial palmar arch and gangrene in the hand in a neonate with DOCK6 mutation.

The superficial palmar arch, formed by the branches of radial and ulnar arteries, supplies the blood to the hand. In cases of incomplete superficial palmar arch, the radial and ulnar branches fail to join. Any compromise to the ulnar blood supply in an incomplete superficial palmar arch can lead to subsequent gangrene. This baby presented with blackish discolouration and gangrene on the left hand, primarily affecting the little, ring, middle and index fingers. Timely intervention with antibiotics and heparinisation led to salvage of the ring, middle and index fingers, while the little finger underwent auto-amputation. On clinical exome sequencing, the baby was found to have DOCK6 mutation. This case highlights the importance of vascular involvement in DOCK6 mutation and the need for careful evaluation and management in cases of incomplete superficial palmar arch.

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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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