Le syndrome de Kearns-Sayre : à propos d’un cas

Gaboune, L.; Ali, T. Baha; Benfdil, N.; Khoumiri, R.; Ouaggag, B.; Sayouti, A.; Moutaouakil, A.

doi:10.1016/j.jfo.2012.06.010

Cited by 7 publications

(3 citation statements)

References 9 publications

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“…Chronic progressive external ophthalmoplegia that affects both ocular muscles and eyelid levator muscles resulting in a sever ptosis which is most often the revealing sign (46% of cases) [7]. Pigmentary retinopathy is atypical [8,9], which was the case for our patient who had a preserved visual acuity and a late hemeralopia without papillary atrophy or narrowing of the arteries caliber.…”

Section: Accepted Manuscriptmentioning

confidence: 60%

Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review

Moustaine,

Azemour,

Mohammed

et al. 2023

Arch Plast Surg

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Kearns Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia and an atypical pigmentary retinopathy. It’s also characterized by other endocrine, neurological and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by sever bilateral ptosis and confirmed by a muscle biopsy with “ragged red fibers”. The ptosis was surgically managed by cautious Frontal suspension under local anesthesia “Frontal nerve block”. Through this case we discuss challenges in the management of KSS patients.

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Section: Accepted Manuscriptmentioning

confidence: 60%

Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review

Moustaine,

Azemour,

Mohammed

et al. 2023

Arch Plast Surg

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“…Pigmentary retinopathy is defined by an appearance of fine pigment deposits at the fundus, a variable degree of retinal atrophy and optical atrophy. This is accompanied by a variable degree of night blindness and peripheral visual field impairment [29].…”

Section: Kearns-sayrementioning

confidence: 99%

Human Mitochondrial DNA: Particularities and Diseases

et al. 2021

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Mitochondria are the cell’s power site, transforming energy into a form that the cell can employ for necessary metabolic reactions. These organelles present their own DNA. Although it codes for a small number of genes, mutations in mtDNA are common. Molecular genetics diagnosis allows the analysis of DNA in several areas such as infectiology, oncology, human genetics and personalized medicine. Knowing that the mitochondrial DNA is subject to several mutations which have a direct impact on the metabolism of the mitochondrion leading to many diseases, it is therefore necessary to detect these mutations in the patients involved. To date numerous mitochondrial mutations have been described in humans, permitting confirmation of clinical diagnosis, in addition to a better management of the patients. Therefore, different techniques are employed to study the presence or absence of mitochondrial mutations. However, new mutations are discovered, and to determine if they are the cause of disease, different functional mitochondrial studies are undertaken using transmitochondrial cybrid cells that are constructed by fusion of platelets of the patient that presents the mutation, with rho osteosarcoma cell line. Moreover, the contribution of next generation sequencing allows sequencing of the entire human genome within a single day and should be considered in the diagnosis of mitochondrial mutations.

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“…Il se caractérise par l'apparition avant l'âge de 20 ans d'une ophtalmoplégie externe progressive (limitation progressive des mouvements oculaires dans toutes les directions du regard, ptosis, pupilles normales), d'une rétinopathie pigmentaire avec au moins l'un des symptômes suivants : troubles de la conduction cardiaque, hyperprotéinorachie, syndrome cérébelleux [Zeviani, Di Donato, 2004], [Gaboune et al, 2012]. D'autres manifestations systémiques peuvent s'y associer : myopathies de la face et des membres, retard de croissance, déficits hormonaux avec en particulier retard pubertaire, hypogonadisme, insuffisance rénale, surdité, régression psychomotrice [DiMauro, Schon, 2003].…”

Section: Présentation Cliniqueunclassified

VII-3 : DYSFONCTIONNEMENTS VISUELS ASSOCIÉS À QUELQUES MALADIES PÉDIATRIQUES MÉTABOLIQUES, SYSTÉMIQUES et NEUROLOGIQUES. Apport du bilan électrophysiologique Première partie

Rigaudière¹,

Delouvrier²

2013

Oeil Et Physiologie De La Vision

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Le syndrome de Kearns-Sayre : à propos d’un cas

Cited by 7 publications

References 9 publications

Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review

Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review

Human Mitochondrial DNA: Particularities and Diseases

VII-3 : DYSFONCTIONNEMENTS VISUELS ASSOCIÉS À QUELQUES MALADIES PÉDIATRIQUES MÉTABOLIQUES, SYSTÉMIQUES et NEUROLOGIQUES. Apport du bilan électrophysiologique Première partie

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