Kearns-Sayre syndrome is genetically and phenotypically heterogeneous

Finsterer, Josef; Zarrouk‐Mahjoub, Sinda

doi:10.4081/pmc.2018.193

Cited by 4 publications

(5 citation statements)

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“…According to mitochondrial myopathies [38][39][40], fortunately episodes of RM are infrequent and only a few examples will be analysed below. Generally, mitochondrial myopathy can be classified into 5 groups: 1) mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) [38], 2) myoclonus epilepsy associated with ragged-red fibres (MERRF) [41,42], 3) Kearns-Sayre syndrome (KISS) [43], 4) chronic progressive external ophthalmoplegia (CPEO) [44], and 5) neurogenic weakness with ataxia and retinitis pigmentosa (NARP) [45,46].…”

Section: Mitochondrial Myopathiesmentioning

confidence: 99%

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Non-traumatic and non-drug-induced rhabdomyolysis

Kolovou

Cokkinos

Bilianou

et al. 2019

Arch Med Sci Atheroscler Dis

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Rhabdomyolysis (RM), a fortunately rare disease of the striated muscle cells, is a complication of non-traumatic (congenital (glycogen storage disease, discrete mitochondrial myopathies and various muscular dystrophies) or acquired (alcoholic myopathy, systemic diseases, arterial occlusion, viral illness or bacterial sepsis)) and traumatic conditions. Additionally, RM can occur in some individuals under specific circumstances such as toxic substance use and illicit drug abuse. Lipid-lowering drugs in particular are capable of causing RM. This comprehensive review will focus on non-traumatic and nondrug-induced RM. Moreover, the pathology of RM, its clinical manifestation and biochemical effects, and finally its management will be discussed.

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Section: Mitochondrial Myopathiesmentioning

confidence: 99%

“…The KISS syndrome has a typical onset before the age of 20 and manifests with progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction block, hyperproteinorrhachia or ataxia [43].…”

Section: Kiss Syndromementioning

confidence: 99%

Non-traumatic and non-drug-induced rhabdomyolysis

Kolovou

Cokkinos

Bilianou

et al. 2019

Arch Med Sci Atheroscler Dis

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“…ure, or cardiac disease [4]. Concerning cardiac involvement, the most frequently reported condition is third-degree atrioventricular block, which requires implantation of a pacemaker.…”

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confidence: 99%

“…It is only reported that the index patient was of short stature, had retinitis pigmentosa, hypoacusis, and myopathy [ 1 ]. However, KSS patients may also present with endocrine abnormalities (e.g., diabetes or hypogonadism), renal failure, or cardiac disease [ 4 ]. Concerning cardiac involvement, the most frequently reported condition is third-degree atrioventricular block, which requires implantation of a pacemaker.…”

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confidence: 99%

Uncovering the etiology of ptosis prior to blepharoplasty

Finsterer

2020

Arch Plast Surg

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Letter Dear Editor, We read with interest the article by Weitgasser et al. [1] about ptosis correction in a 52-year-old man with Kearns-Sayre syndrome (KSS) and bilateral ptosis that started 20 years earlier. The authors concluded that "awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions" [1]. However, the report has a number of shortcomings. In the abstract, the authors state in one sentence that bilateral ptosis was "progressive," but in the next sentence, ptosis is described as "recurrent." To avoid any contradiction, it should be clearly stated whether the course was undulating, but progressive overall, or whether the patient's ptosis truly entirely disappeared and recurred. In the latter case, the authors must explain what they meant by "progressive. " A further shortcoming of the report is that KSS was diagnosed without genetic confirmation. In most cases, KSS is due to sporadic, single mitochondrial DNA (mtDNA) deletions [2]. However, in 4% of cases, the single mtDNA deletion is maternally transmitted [2]; for this reason, it is crucial to conduct clinical and genetic investigations of the mother of KSS patients. Since KSS may also occur due to mtDNA point mutations in rare cases [3], a negative result for mtD-NA deletion screening does not exclude a genetic cause. Interestingly, figure 1 shows bilateral ptosis with right-sided predominance despite ptosis correction on the right side 12 years prior [1]. It would be helpful to know the preoperative status of the eyelid and the surgical method applied for the first ptosis correction. The authors should explain why ptosis was more severe on the right side than on the left side, despite previous right-sided surgery. A further shortcoming is that the patient was not prospectively investigated for multisystem involvement. It is only reported that the index patient was of short stature, had retinitis pigmentosa, hypoacusis, and myopathy [1]. However, KSS patients may also present with endocrine abnormalities (e.g., diabetes or hypogonadism), renal fail

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“…We do not agree with the definition of KSS. Diagnostic criteria for KSS not only include ophthalmoplegia, onset <20 y, retinopathy, and cardiac conduction defects,1 but also short stature, elevated CSF protein, and endocrine abnormalities 4…”

mentioning

confidence: 99%