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<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31841</a>
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Title
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Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Publisher
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American Journal Of Medical Genetics.Part A
Date
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2008
Subject
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Child; Female; Humans; Cerebrovascular Circulation; Q3 Literature Search; Acyl-CoA Dehydrogenase/deficiency/genetics; Brain/blood supply/physiopathology; Leu/genetics; Magnetic Resonance Angiography; MELAS Syndrome/ge [Genetics]; Point Mutation; RNA; Transfer
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Longo N; Schrijver I; Vogel H; Pique LM; Cowan TM; Pasquali M; Steinberg GK; Hedlund GL; Ernst SL; Gallagher RC; Enns GM
Description
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MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.
2008
Identifier
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<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">10.1002/ajmg.a.31841</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2008
Acyl-CoA Dehydrogenase/deficiency/genetics
American Journal Of Medical Genetics.Part A
Backlog
Brain/blood supply/physiopathology
Cerebrovascular Circulation
Child
Cowan TM
Enns GM
Ernst SL
Female
Gallagher RC
Hedlund GL
Humans
Journal Article
Leu/genetics
Longo N
Magnetic Resonance Angiography
MELAS Syndrome/ge [Genetics]
Pasquali M
Pique LM
Point Mutation
Q3 Scoping Review Results
RNA
Schrijver I
Steinberg GK
Transfer
Vogel H