Síndrome de Leigh: relato de caso Leigh syndrome: case report

Síndrome de Leigh: relato de caso Leigh syndrome: case report

Os autores descrevem pela primeira vez no país um caso de criança do sexo feminino, com 10 anos de idade, atendida no ambulatório de Oftalmologia do Hospital Universitário Clementino Fraga Filho - UFRJ, portadora da síndrome de Leigh, que faz parte de um grupo de enfermidades metabólicas conhecidas...

Full description

Bibliographic Details
Main Authors:	Adriano de Carvalho Roma, Paula Resende Aquino de Assis Pereira, Adalmir Morterá Dantas
Format:	Article
Language:	English
Published:	Conselho Brasileiro de Oftalmologia 2008-02-01
Series:	Arquivos Brasileiros de Oftalmologia
Subjects:	Doença de Leigh Encefalomiopatias mitocondriais Doenças metabólicas Mitocôndria Citocromos C Relatos de casos Leigh disease Mitochondrial encephalomyopathies Metabolic diseases Mitochondria Cytochromes c Case reports
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492008000100026

Similar Items

Leigh Encephalopathy
by: J Gordon Millichap
Published: (1992-11-01)

Late onset Leigh syndrome mimicking central nervous system vasculitis
by: Pankaj Prasun, et al.
Published: (2014-01-01)

Leigh’s Disease: A case Report
by: Nikhil Verma, et al.
Published: (2014-12-01)

Abordagem anestésica em paciente pediátrico com síndrome de Leigh Abordaje anestésico en paciente Pediátrico con el síndrome de Leigh Anesthetic management of a pediatric patient with Leigh syndrome
by: Ismail Serhat Kocamanoglu, et al.
Published: (2013-04-01)

Caracterização das principais mutações de ponto do DNA mitocondrial em um grupo de pacientes com doenças neurodegenerativas
by: Castro, Daniela Medeiros de
Published: (2002)

Anesthetic Management of Leigh Syndrome
by: Ayşe Çiğdem TÜTÜNCÜ, et al.
Published: (2017-04-01)

Molecular basis of Leigh syndrome: a current look
by: Manuela Schubert Baldo, et al.
Published: (2020-01-01)

A Novel Mitochondrial DNA 8597T>C Mutation of Leigh Syndrome: Report of One Case
by: Jeng-Dau Tsai, et al.
Published: (2012-02-01)

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
by: Junling Wang, et al.
Published: (2021-06-01)

Leigh syndrome associated with TRMU gene mutations
by: Júlia Sala-Coromina, et al.
Published: (2021-03-01)

Anesthetic considerations in Leigh disease: Case report and literature review
by: Abdullah Sulieman Terkawi, et al.
Published: (2012-01-01)

Leigh syndrome: Clinical and paraclinical study
by: "Ashrafi MR, et al.
Published: (2002-12-01)

Leigh′s disease (subacute necrotising encephalo-myelopathy)-a case report
by: AG Hombal, et al.
Published: (2005-04-01)

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
by: Junling Wang, et al.
Published: (2021-03-01)

Leigh’s Syndrome with Two Mitochondrial Defects
by: J Gordon Millichap
Published: (1992-02-01)

Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
by: Farzad Ashrafi, et al.
Published: (2016-12-01)

Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
by: Farzad Ashrafi, et al.
Published: (2017-01-01)

Mitochondrial DNA (mtDNA) mutations in patients with suspected myoclonic epilepsy and ragged red muscle fibres (MERRF), Leigh syndrome (LS), and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
by: Prosser, Debra Olive
Published: (2013)

Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report
by: Jisoo Oh, et al.
Published: (2020-11-01)

The prevalence of mitochondrial DNA mutations in Leigh syndrome in a Brazilian series
by: Suely Kazue Nagahashi Marie, et al.

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
by: Tao-Ran Li, et al.
Published: (2019-04-01)

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
by: Tao-Ran Li, et al.
Published: (2019-09-01)

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
by: Paolo Aretini, et al.
Published: (2018-07-01)

Leigh syndrome: Clinical and paraclinical study
by: "Ashrafi MR, et al.
Published: (2002-08-01)

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
by: Sunho Lee, et al.
Published: (2019-05-01)

Adult onset Leigh syndrome
by: Pandit Lekha, et al.
Published: (2007-01-01)

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
by: Anna Ardissone, et al.
Published: (2021-10-01)

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome
by: Chan-Mi Hong, et al.
Published: (2020-04-01)

Why does Leigh syndrome respond to immunotherapy?
by: Josef Finsterer, MD, PhD, et al.
Published: (2017-06-01)

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
by: Danis Daniel, et al.
Published: (2018-04-01)

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil
by: Gabriela Palhares Campolina-Sampaio, et al.

Adult-onset Leigh′s disease: A rare entity
by: Shaik Afshan Jabeen, et al.
Published: (2016-01-01)

Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?
by: Miguel Chuquilin, M.D., et al.
Published: (2016-09-01)

Patrick Leigh Fermor’s “Hellen-Romaic Dilemma”
by: Przemysław Kordos
Published: (2015-07-01)

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis
by: Kenichiro Yamada, et al.
Published: (2014-01-01)

Anima animus: Jennifer Jason Leigh's bisexual method in Last Exit to Brooklyn
by: Ian Murphy
Published: (2012-12-01)

Perioperative risk assessment for successful kidney transplant in leigh syndrome: a case report
by: Kathryn Ducharlet, et al.
Published: (2018-02-01)

Abordagem anestésica em paciente pediátrico com síndrome de Leigh
by: Ismail Serhat Kocamanoglu, et al.
Published: (2013-04-01)

Leigh Syndrome: A Tale of Two Genomes
by: Ajibola B. Bakare, et al.
Published: (2021-08-01)

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons
by: Teresa Galera-Monge, et al.
Published: (2020-04-01)