Kearns–Sayre syndrome with a novel large-scale deletion: a case report

Abstract

Background Kearns–Sayre syndrome (KSS) is a rare, multisystem mitochondrial encephalomyopathy. We report a case of KSS with a novel 7.6-kb deletion as assessed through a long-range polymerase chain reaction (PCR) study in the blood. In addition, optical coherence tomography angiography (OCTA) confirmed deep retinal capillary atrophy for the first time. Case presentation A 13-year-old patient presented with progressive vision loss and difficulty with eye opening and was diagnosed with progressive external ophthalmoplegia and retinitis pigmentosa (RP). The patient also experienced heart block, vestibular dysfunction, growth retardation and multiple demyelinating lesions. A long-range PCR study in the blood revealed a large-scale Chrm: 6341–13,993 deletion, which was first reported and broadened the genetic spectrum of this disease. The patient underwent complete ophthalmic examination, medical history review and gene detection, resulting in a confirmation of the diagnosis of KSS. The patient was given a pair of applicable glasses to wear and was followed up every 3 months. An implantable pacemaker was also installed based on the advice of the physician. Conclusions We reported a novel large-scale deletion in the mitochondrial DNA of KSS, and OCTA was used for the first time to confirm deep retinal capillary atrophy. Furthermore, because ophthalmic symptoms are often the primary manifestation of KSS, the relationship between ophthalmology and mitochondrial diseases should be emphasised.

Mitochondrial Dynamics during Development

“…Some survivors go on to develop Kearns-Sayre syndrome, a progressive cardio-encephalo-myopathy caused by a large deletion or rearrangement of mtDNA. [379][380][381][382] Leigh syndrome, also termed subacute necrotizing encephalomyelopathy, is a rare, inherited progressive neurodegenerative disorder that usually manifests in infancy or early childhood. 383,384 Many cases can be diagnosed in early infancy and present with developmental delay, pyramidal and extrapyramidal symptoms, leukodystrophy, and brainstem dysfunction.…”

“…Some survivors go on to develop Kearns-Sayre syndrome, a progressive cardio-encephalo-myopathy caused by a large deletion or rearrangement of mtDNA. 379 – 382 …”

Clinical Approaches for Mitochondrial Diseases

“…Heart block, growth retardation, external ophthalmoplegia, vestibular dysfunction Vision loss, progressive external ophthalmoplegia, retinitis pigmentosa, heart block, vestibular dysfunction, growth retardation [68] Large deletion of mtDNA Photophobia, nystagmus, sensorineural hearing loss, tremor, progressive cerebellar ataxia [69] Chronic progressive external ophthalmoplegia (CPEO)…”