A rare mitochondrial disorder: Leigh syndrome - a case report

Shrikhande, Dhananjay Y; Kalakoti, Piyush; Syed, MM Aarif; Ahya, Kunal; Singh, Gurmeet

doi:10.1186/1824-7288-36-62

Cited by 29 publications

(26 citation statements)

References 23 publications

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“…Only in one of these patients, the EEG was indicative of generalized epilepsy . Electroencephalography indicating a status epilepticus was recorded in a 7‐month old girl with Leigh‐syndrome . In the first of two patients with AHS, the EEG showed low‐amplitude, polyspikes, polyspike‐waves, and very slow waves of high amplitude alternating with a trace of burst‐suppression activity .…”

Section: Electroencephalography In Midsmentioning

confidence: 99%

Mitochondrial epilepsy in pediatric and adult patients

Finsterer

Zarrouk‐Mahjoub

2013

Acta Neurol Scand

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Few data are available about the difference between epilepsy in pediatric mitochondrial disorders (MIDs) and adult MIDs. This review focuses on the differences between pediatric and adult mitochondrial epilepsy with regard to seizure type, seizure frequency, and underlying MID. A literature search via Pubmed using the keywords 'mitochondrial', 'epilepsy', 'seizures', 'adult', 'pediatric', and all MID acronyms, was carried out. Frequency of mitochondrial epilepsy strongly depends on the type of MID included and is higher in pediatric compared to adult patients. In pediatric patients, mitochondrial epilepsy is more frequent due to mutations in nDNA-located than mtDNA-located genes and vice versa in adults. In pediatric patients, mitochondrial epilepsy is associated with a syndromic phenotype in half of the patients and in adults more frequently with a non-syndromic phenotype. In pediatric patients, focal seizures are more frequent than generalized seizures and vice versa in adults. Electro-clinical syndromes are more frequent in pediatric MIDs compared to adult MIDs. Differences between pediatric and adult mitochondrial epilepsy concern the onset of epilepsy, frequency of epilepsy, seizure type, type of electro-clinical syndrome, frequency of syndromic versus non-syndromic MIDs, and the outcome. To optimize management of mitochondrial epilepsy, it is essential to differentiate between early and late-onset forms.

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Section: Electroencephalography In Midsmentioning

confidence: 99%

Mitochondrial epilepsy in pediatric and adult patients

Finsterer

Zarrouk‐Mahjoub

2013

Acta Neurol Scand

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“…These results suggest that mitochondrial fission plays a critical role in the attenuation of mitochondrial damage in MD fibroblasts.Biomolecules 2020, 10, 450 2 of 13 respiratory chain complexes [7]. However, in multiple cases, the exact genetic cause of Leigh syndrome remains unknown [8]. Currently, there is no cure or effective treatment for MD, but recent research has shown the potential benefits of some approaches, at least in preclinical in vivo models [9][10][11].…”

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confidence: 99%

Mitochondrial Dynamics Regulation in Skin Fibroblasts from Mitochondrial Disease Patients

et al. 2020

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Mitochondria are highly dynamic organelles that constantly fuse, divide, and move, and their function is regulated and maintained by their morphologic changes. Mitochondrial disease (MD) comprises a group of disorders involving mitochondrial dysfunction. However, it is not clear whether changes in mitochondrial morphology are related to MD. In this study, we examined mitochondrial morphology in fibroblasts from patients with MD (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and Leigh syndrome). We observed that MD fibroblasts exhibited significant mitochondrial fragmentation by upregulation of Drp1, which is responsible for mitochondrial fission. Interestingly, the inhibition of mitochondrial fragmentation by Drp1 knockdown enhanced cellular toxicity and led to cell death in MD fibroblasts. These results suggest that mitochondrial fission plays a critical role in the attenuation of mitochondrial damage in MD fibroblasts.Biomolecules 2020, 10, 450 2 of 13 respiratory chain complexes [7]. However, in multiple cases, the exact genetic cause of Leigh syndrome remains unknown [8]. Currently, there is no cure or effective treatment for MD, but recent research has shown the potential benefits of some approaches, at least in preclinical in vivo models [9][10][11]. Many researchers assume that both bulk and mitochondrial autophagy play protective roles in MD because the accumulation of damaged mitochondria and other toxic aggregates causes deterioration of the pathophysiology of the cell [12]. Preclinical studies suggest that a potential therapeutic target of disease progression is the mammalian target of rapamycin (mTOR) pathway, a biological route fundamental for regulating cell metabolism and physiology [13]. In mice models of Leigh syndrome, treatment with rapamycin, an mTOR inhibitor, extended lifespan and reduced disease progression and severity [14]. Civiletto et al. provided evidence that rapamycin induces improvements in mitochondrial function and ultrastructure, indicating powerful clearance of dysfunctional organelles via activation of autophagic flux in skeletal muscle.Mitochondria are highly dynamic organelles that continuously fuse, divide, and move, and mitochondrial function is controlled and maintained by these morphologic changes. Mitochondrial fission is specifically mediated by dynamin-related guanosine triphosphatase (GTPase) protein 1 (Drp1); in addition, dynamin-related GTPases mitofusin (Mfn) and optic atrophy 1 (OPA1) are associated with the outer and inner mitochondrial membranes, respectively, and mediate fusion of these membranes [15][16][17][18][19]. The most direct consequence of mitochondrial division and fusion is the change in size of the mitochondria [20][21][22]. Mitochondrial fission via Drp1 has been thought to regulate mitophagy by dividing mitochondria into fragments suitable for autophagosome engulfment [23][24][25] and/or separating damaged subdomains of mitochondria for elimination [26]. Mitochondrial fusion enables efficient mixing of m...

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“…A diagnosis of SNE can be made without histopathology on the basis of clinical signs and symptoms, mode of inheritance, metabolic abnormalities such as elevated CSF lactate, and neuroimaging findings [6,7]. In some reported cases, the diagnosis was purely made on clinical presentation and MRI findings [8,9]. Adult-onset SNE is rare, and has previously been defined as patients who survived longer than 18 years [4].…”

Section: Discussionmentioning

confidence: 99%

Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings

Khandwala¹,

Mubarak²

2019

Cureus

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Subacute necrotizing encephalomyelopathy (SNE) or Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder typically manifesting in the pediatric age group with variable clinical presentation and genetic heterogeneity. Late-onset varieties are extremely rare and only few cases have been reported globally. Neuroimaging however shows characteristic symmetrical necrotic lesions in the basal ganglia and/or brainstem. We report cases of two siblings who had history of seizures, but presented to us in adulthood. They had similar clinical presentation and radiological features on magnetic resonance imaging (MRI) and were subsequently diagnosed with SNE primarily based on imaging.

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A rare mitochondrial disorder: Leigh syndrome - a case report

Cited by 29 publications

References 23 publications

Mitochondrial epilepsy in pediatric and adult patients

Mitochondrial epilepsy in pediatric and adult patients

Mitochondrial Dynamics Regulation in Skin Fibroblasts from Mitochondrial Disease Patients

Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings

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