Syndrome de Leigh et leucodystrophie par déficit partiel en succinate déshydrogénase: régression sous riboflavine

Pinard, Jean-Marc; Marsac, Cécile; Barkaoui, E.; Desguerre, I.; Birch‐Machin, Mark A.; Reinert, P.; Ponsot, G

doi:10.1016/s0929-693x(99)80224-3

“…Complex II (succinate:ubiquinone oxidoreductase) deficiency accounts for approximately 2% of mitochondrial encephalomyopathies 29, 30. Among a wide range of clinical presentations, leukodystrophy and Leigh syndrome have been reported to be associated with complex II deficiency 31, 32…”

Section: Discussionmentioning

confidence: 99%

p53 and Ki‐67 as markers of radioresistance in head and neck carcinoma

Couture

¹

,

Raybaud‐Diogène²,

Têtu

³

et al. 2002

Cancer

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A deficiency of succinate dehydrogenase is a rare cause of mitochondrial encephalomyopathy. Three patients, 2 sisters and 1 boy from an unrelated family, presented with symptoms and magnetic resonance imaging signs of leukoencephalopathy. Localized proton magnetic resonance spectroscopy indicated a prominent singlet at 2.40ppm in cerebral and cerebellar white matter not present in gray matter or basal ganglia. The signal was also elevated in cerebrospinal fluid and could be identified as originating from the two equivalent methylene groups of succinate. Subsequently, an isolated deficiency of complex II (succinate:ubiquinone oxidoreductase) was demonstrated in 2 patients in muscle and fibroblasts. One of the sisters died at the age of 18 months. Postmortem examination showed the neuropathological characteristics of Leigh syndrome. Her younger sister, now 12 months old, is also severely affected; the boy, now 6 years old, follows a milder, fluctuating clinical course. Magnetic resonance spectroscopy provides a characteristic pattern in succinate dehydrogenase deficiency.

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“…29,30 Among a wide range of clinical presentations, leukodystrophy and Leigh syndrome have been reported to be associated with complex II deficiency. 31,32 Although Patient 3 showed a milder clinical course and succinate and lactate concentrations in affected white matter not as high as the 2 sisters had (as measured by MRS), white matter changes as shown on MRI were more extensive than in the girls. The characteristic topological MRI pattern of Leigh syndrome with the involvement of basal ganglia and brainstem was not present in any of the patients.…”

Section: Fig 4 Patient 3 (Unrelated To Patients 1 and 2) (A B) T2-mentioning

confidence: 96%

Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

Brockmann

¹

,

Bjørnstad

²

,

Dechent

³

et al. 2002

Annals of Neurology

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A deficiency of succinate dehydrogenase is a rare cause of mitochondrial encephalomyopathy. Three patients, 2 sisters and 1 boy from an unrelated family, presented with symptoms and magnetic resonance imaging signs of leukoencephalopathy. Localized proton magnetic resonance spectroscopy indicated a prominent singlet at 2.40ppm in cerebral and cerebellar white matter not present in gray matter or basal ganglia. The signal was also elevated in cerebrospinal fluid and could be identified as originating from the two equivalent methylene groups of succinate. Subsequently, an isolated deficiency of complex II (succinate:ubiquinone oxidoreductase) was demonstrated in 2 patients in muscle and fibroblasts. One of the sisters died at the age of 18 months. Postmortem examination showed the neuropathological characteristics of Leigh syndrome. Her younger sister, now 12 months old, is also severely affected; the boy, now 6 years old, follows a milder, fluctuating clinical course. Magnetic resonance spectroscopy provides a characteristic pattern in succinate dehydrogenase deficiency.

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“…Thiamine, a cofactor of pyruvate dehydrogenase complex has been reported to improve the neurological status in some patients [21]. Marked improvement was observed with riboflavin, which nearly normalized the adenosine triphosphate production [22,23]. Rapid clinical and biochemical improvement was observed in patients with acute central respiratory failure with the use of intravenous soya bean oil (ketogenic emulsion) [24].…”

Section: Discussionmentioning

confidence: 99%

A rare mitochondrial disorder: Leigh syndrome - a case report

Shrikhande

¹

,

Kalakoti

²

,

Syed

³

et al. 2010

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Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.

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Syndrome de Leigh et leucodystrophie par déficit partiel en succinate déshydrogénase: régression sous riboflavine

Cited by 20 publications

References 14 publications

p53 and Ki‐67 as markers of radioresistance in head and neck carcinoma

p53 and Ki‐67 as markers of radioresistance in head and neck carcinoma

Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

A rare mitochondrial disorder: Leigh syndrome - a case report

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