نتایج جستجو برای: encephalomyelopathy

تعداد نتایج: 94  

Journal: :SN Comprehensive Clinical Medicine 2023

Abstract Leigh syndrome (LS) or subacute necrotizing encephalomyelopathy is a progressive, lethal, mitochondrial disease mostly presenting in childhood. We report 36-year-old African male to the Emergency Department with 6-month history of progressive dysarthria. Examination also showed oculomotor limitations for downgaze and convergence, mild right hemiparesis Babinski sign, absent lower limb ...

Journal: :Gut 1983
M Camilleri T Krausz P D Lewis H J Hodgson C A Pallis V S Chadwick

A 62 year old Irish woman with an eight year history of probable coeliac disease developed brain stem signs, unilateral facial numbness and weakness, wasting and anaesthesia in both lower limbs. Over the next two years, a progressive deterioration in neurological function and in intestinal absorption, and the development of anaemia led to a suspicion of malignancy. Bone marrow biopsy revealed m...

Journal: :Human molecular genetics 2008
Hasan O Akman Beatriz Dorado Luis C López Angeles García-Cazorla Maya R Vilà Lauren M Tanabe William T Dauer Eduardo Bonilla Kurenai Tanji Michio Hirano

Mitochondrial DNA (mtDNA) depletion syndrome (MDS), an autosomal recessive condition, is characterized by variable organ involvement with decreased mtDNA copy number and activities of respiratory chain enzymes in affected tissues. MtDNA depletion has been associated with mutations in nine autosomal genes, including thymidine kinase (TK2), which encodes a ubiquitous mitochondrial protein. To stu...

Journal: :AJNR. American journal of neuroradiology 1990
L Medina T L Chi D C DeVivo S K Hilal

MR studies were correlated with biochemical results in nine children who presented with lactic acidosis and/or abnormal MR findings in the basal ganglia. Neurologic development was delayed in all nine children. Seven of these patients were diagnosed as having subacute necrotizing encephalomyelopathy (SNE, or Leigh syndrome) on the basis of history, clinical findings, and biochemical studies; of...

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