Atypical Presentations of Leigh Syndrome: A Case Series and Review

Huntsman, Richard J.; Sinclair, D. Barry; Bhargava, Ravi; Chan, Alicia

doi:10.1016/j.pediatrneurol.2004.12.009

Cited by 67 publications

(72 citation statements)

References 10 publications

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“…Prenatal expression of mitochondrial disease has been described with oligohydramnios, intrauterine growth restriction and abnormal brain neuroimaging (Kumakura et al 2009;Sofou et al 2014). Late-onset Leigh syndrome has been associated with predominant extrapyramidal features, slow progression, acute deterioration, usually after decompensation with illness, and atypical presentations including features of Guillain-Barré syndrome, hypertrophic cardiomyopathy, anaemia and leukopenia (Huntsman et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

et al. 2016

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Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS).Subsequent persistent plasma elevations of C5-OH and propionylcarnitine (C3) as well as fluctuating urinary markers were suggestive of multiple carboxylase deficiency (MCD). Normal enzymology and mutational analysis of genes encoding holocarboxylase synthetase (HLCS) and biotinidase (BTD) excluded MCD. Biotin uptake studies were normal excluding biotin transporter deficiency. His clinical features at 13 months of age comprised psychomotor delay, central hypotonia, myopathy, failure to thrive, hypocitrullinemia, recurrent episodes of decompensation with metabolic keto-lactic acidosis and an episode of hyperammonemia. Biotin treatment from 13 months of age was associated with increased patient activity, alertness,

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Section: Introductionmentioning

confidence: 99%

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

et al. 2016

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“…7,8,10 Neurological symptoms are ataxia, apraxia, deficits of the pyramidal tract, myoclonus, ophthalmoplegia and respiratory difficulty. 7 Genetic irregularities are reported in 50% of all cases. There are many other biochemical irregularities which could lead to Leigh's disease.…”

Section: Discussionmentioning

confidence: 99%

Leigh syndrome: A rare mitochondrial disorder

Kundu

Akhter

et al. 2016

Bangabandhu Sheikh Mujib Medical University Journal

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<p>Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted. Magnetic resonance imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the appropriate diagnosis. Here, we report a case of progressive neurologic disorders presenting with motor and intellectual regression which on MRI was diagnosed as Leigh syndrome.</p>

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“…But her evolution was different, characterized by periods of exacerbation and remission of neurological symptoms. The two cases illustrate how the patients with this disease may progress in outbreaks or a slow and gradual progression [1][2][3] . This slow progression seems to occur more frequently in the late form of presentation 2,3 .…”

Section: Discussionmentioning

confidence: 99%

“…It affects mainly infants and preschool children. But its presentation is extremely variable and may occur in children and young adults in atypical way 2,3 . The most common symptoms are motor with pyramidal and cerebellar features 1,4,5 .…”

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confidence: 99%