Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency

Claudio Bruno, A. Pessagno, A. Rossi, M. Pedemonte, S. Assereto, S. Scapolan, M. Bado, L. Doria, M. Di Rocco, C. Minetti

Research output: Contribution to journalArticle

Abstract

Leigh's syndrome (LS) is a progressive neurodegenerative disorder with onset in infancy or early childhood. We report on two unrelated children with LS and cytochrome c oxidase deficiency. Genetic analysis revealed the presence of mutations in the SURF1 gene. In addition to the classical criteria of LS, both cases presented atypical clinical features and brain MRI abnormalities, contributing to a better clinical and neuroradiological characterization of this syndrome.

Original languageEnglish
Pages (from-to)169-172
Number of pages4
JournalItalian Journal of Pediatrics
Volume29
Issue number3
Publication statusPublished - Jun 2003

Fingerprint

Cytochrome-c Oxidase Deficiency
Leigh Disease
Neurodegenerative Diseases
Mutation
Brain
Genes

Keywords

  • Cytochrome c oxidase
  • Leigh's syndrome
  • Peripheral neuropathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency",
abstract = "Leigh's syndrome (LS) is a progressive neurodegenerative disorder with onset in infancy or early childhood. We report on two unrelated children with LS and cytochrome c oxidase deficiency. Genetic analysis revealed the presence of mutations in the SURF1 gene. In addition to the classical criteria of LS, both cases presented atypical clinical features and brain MRI abnormalities, contributing to a better clinical and neuroradiological characterization of this syndrome.",
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T1 - Clinical and neuroradiological features in two patients with Leigh's syndrome and cytochrome c oxidase deficiency

AU - Bruno, Claudio

AU - Pessagno, A.

AU - Rossi, A.

AU - Pedemonte, M.

AU - Assereto, S.

AU - Scapolan, S.

AU - Bado, M.

AU - Doria, L.

AU - Di Rocco, M.

AU - Minetti, C.

PY - 2003/6

Y1 - 2003/6

N2 - Leigh's syndrome (LS) is a progressive neurodegenerative disorder with onset in infancy or early childhood. We report on two unrelated children with LS and cytochrome c oxidase deficiency. Genetic analysis revealed the presence of mutations in the SURF1 gene. In addition to the classical criteria of LS, both cases presented atypical clinical features and brain MRI abnormalities, contributing to a better clinical and neuroradiological characterization of this syndrome.

AB - Leigh's syndrome (LS) is a progressive neurodegenerative disorder with onset in infancy or early childhood. We report on two unrelated children with LS and cytochrome c oxidase deficiency. Genetic analysis revealed the presence of mutations in the SURF1 gene. In addition to the classical criteria of LS, both cases presented atypical clinical features and brain MRI abnormalities, contributing to a better clinical and neuroradiological characterization of this syndrome.

KW - Cytochrome c oxidase

KW - Leigh's syndrome

KW - Peripheral neuropathy

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