Finsterer Josef
Neurology, Neurology & Neurophysiology Center, Vienna, AUT.
Cureus. 2021 Dec 23;13(12):e20641. doi: 10.7759/cureus.20641. eCollection 2021 Dec.
Chronic progressive external ophthalmoplegia (CPEO) manifests phenotypically as ptosis with ophthalmoplegia or CPEO-plus, with the affection of muscles or organs other than the extra-ocular eye muscles. Herein, a case of CPEO-plus caused by a single mitochondrial DNA (mtDNA) deletion is represented, along with several previously unreported phenotypic features. The patient is a 76-year-old Caucasian female who had experienced slowly progressive bilateral ptosis since the age of 15, followed by gradual ophthalmoparesis without double vision. Since the age of 56, she had developed mild quadriparesis, depression, easy fatigability, hypersomnia, a facial tic, optic atrophy, cataract, glaucoma, hepatomegaly, hepatic steatosis, cholecystolithiasis, diverticulosis, hyperhidrosis, mild hyper-creatine-kinase-emia, hyperlipidemia, and hyperuricemia. Moreover, she had faced previously unreported manifestations of mitochondrial disorders, psoriasis, and multiple scalp atheromas. The phenotype and a single 5kb mtDNA deletion were employed to diagnose CPEO-plus. This case demonstrates that the phenotypic spectrum of CPEO-plus is broader than expected, that psoriasis and scalp atheromas are unique features of a mitochondrial disorder, and that CPEO progresses to CPEO-plus during the years.
慢性进行性眼外肌麻痹（CPEO）的表型表现为上睑下垂伴眼外肌麻痹或CPEO加征，伴有眼外肌以外的肌肉或器官受累。本文报道了一例由单个线粒体DNA（mtDNA）缺失引起的CPEO加征病例，并伴有一些以前未报道的表型特征。患者为一名76岁的白种女性，自15岁起出现缓慢进展的双侧上睑下垂，随后逐渐出现眼肌麻痹但无复视。56岁起，她出现轻度四肢无力、抑郁、易疲劳、嗜睡、面部抽搐、视神经萎缩、白内障、青光眼、肝肿大、肝脂肪变性、胆囊结石、憩室病、多汗、轻度高肌酸激酶血症、高脂血症和高尿酸血症。此外，她还出现了线粒体疾病、银屑病和多发性头皮动脉粥样硬化等以前未报道的表现。根据表型和单个5kb mtDNA缺失诊断为CPEO加征。该病例表明，CPEO加征的表型谱比预期的更广，银屑病和头皮动脉粥样硬化是线粒体疾病的独特特征，且CPEO在数年内会进展为CPEO加征。
