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.
Keywords: atheroma; deletion; mitochondrial; mtdna; multisystem; ophthalmoplegia; phenotype; phenotypic heterogeneity; psoriasis; respiratory chain.
Copyright © 2021, Finsterer et al.