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克恩斯-塞尔综合征减症：两例相同的大规模线粒体DNA缺失病例，临床表现超出经典三联征。

Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad.

作者信息

Gloria Pang Shir Wey, Chih Lee Hencher Han, Ng Wing Kei Carol, Yau Eric Kin Cheong, Hui Joannie

机构信息

Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.

Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong.

出版信息

Case Rep Genet. 2022 Apr 23;2022:4153357. doi: 10.1155/2022/4153357. eCollection 2022.

DOI:10.1155/2022/4153357
PMID:35502402
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9056216/
Abstract

A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns-Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook.

摘要

1958年，塞尔等人报告了一例伴有色素性视网膜炎、眼外肌麻痹和完全性心脏传导阻滞的奇特三联征。从那时起，以“卡尔恩斯-塞尔综合征（KSS）”命名的这种疾病开始代表成年前出现线粒体DNA缺失的患者，主要表现为慢性进行性眼外肌麻痹（CPEO）和色素性视网膜病变。然而，越来越多的研究指出，尽管存在相似的基因缺失，其临床表现仍可能有很大差异。在此，我们报告两例线粒体DNA存在相同大片段缺失但临床表现却大不相同的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/1705bbce7140/CRIG2022-4153357.006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/0d60856cc30f/CRIG2022-4153357.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/a93f5d2ae21e/CRIG2022-4153357.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/de8812595dc2/CRIG2022-4153357.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/767bccb43cc4/CRIG2022-4153357.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/2903188cb0ac/CRIG2022-4153357.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/1705bbce7140/CRIG2022-4153357.006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/0d60856cc30f/CRIG2022-4153357.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/a93f5d2ae21e/CRIG2022-4153357.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/de8812595dc2/CRIG2022-4153357.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/767bccb43cc4/CRIG2022-4153357.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/2903188cb0ac/CRIG2022-4153357.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de0c/9056216/1705bbce7140/CRIG2022-4153357.006.jpg

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