Late onset presentation of Leigh syndrome on two cases

Thomé, Úrsula; Fernandes, Alexandre Ribeiro; Nascimento, Osvaldo J. M.; Freitas, Marcos R. G. de; Leite, Marco Antônio Araújo

doi:10.1590/s0004-282x2010000300027

Cited by 5 publications

(9 citation statements)

References 9 publications

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“…Although LS often occurs in early childhood, there are few reports of late-onset presentation in literature. [ 3 4 5 ] The most common neurological features are developmental delay, seizures, and altered level of consciousness. Other associated neurological features include abnormalities in tone, muscle weakness, movement disorders, ataxia, tremor, peripheral neuropathy, central respiratory disturbance, bulbar symptoms (dysarthria, dysphagia), and abnormalities of thermoregulation.…”

Section: Discussionmentioning

confidence: 99%

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Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

et al. 2018

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Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene).

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Section: Discussionmentioning

confidence: 99%

“…Thomé et al . [ 3 ] reported two cases with late-onset of LS with involuntary movements. In another case, Ashrafi et al .…”

Section: Discussionmentioning

confidence: 99%

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Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

et al. 2018

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“…Usual age of presentation is before six months of age in about 50% cases. Late-onset and adult-onset varieties of Leigh syndrome have been rarely described in the literature [2][3][4]. We report an atypical variety of SNE that presented in adulthood in two siblings who had identical clinical presentation and magnetic resonance imaging (MRI) features.…”

Section: Introductionmentioning

confidence: 95%

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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“…Mobile: 9647722604163 eigh's syndrome, or sub acute necrotizing encephalomyelopathy, described by Leigh in 1951, is characterized by symmetrical necrotic lesions in the central nervous system, involving areas such as the basal ganglia, brainstem, spinal cord and cerebellum. It is a mitochondrial disease related to various enzymatic defects that affect the oxidative metabolism [1,2]. Leigh syndrome is faced in approximately 1 in 40,000 births with no known gender or racial predilection [3].…”

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confidence: 99%

Leigh Syndrome: Report of a Rare Case with Late Onset Presentation

Hassan¹

2018

Al-Kindy Col. Med. J

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Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still remains to challenge the clinicians on the basis of history; hence the role of imaging is very essential. It is the neuroimaging, chiefly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Late-onset varieties are rare and only few cases were reported all over the world. Here, I report a case of late onset (juvenile) Leigh syndrome presenting with an acute polyneuropathy. Neuroimaging confirmed it to be a case of Leigh syndrome.

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Late onset presentation of Leigh syndrome on two cases

Cited by 5 publications

References 9 publications

Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings

Leigh Syndrome: Report of a Rare Case with Late Onset Presentation

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