منابع مشابه
MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome.
Alpers-Huttenlocher syndrome, considered a mitochondrial disease, combines encephalopathy and liver failure. An 11-year-old boy with Alpers-Huttenlocher syndrome underwent conventional MR imaging, diffusion-weighted imaging, and proton MR spectroscopy. Diffusion-weighted imaging showed cytotoxic edema interpreted as acute-phase encephalopathy. MR spectroscopy revealed a lactate peak in the cort...
متن کاملExplosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome
Alpers-Huttenlocher syndrome (AHS), first described over 80 years ago is an autosomal recessive neurodegenerative disorder characterised by the triad of refractory seizures, neuro-developmental regression and hepatic failure. AHS is now known to be caused by mutations in the gene encoding the catalytic subunit of polymerase gamma (POLG1), an important mitochondrial DNA replication enzyme. The p...
متن کاملAlpers–Huttenlocher syndrome: the role of a multidisciplinary health care team
Alpers-Huttenlocher syndrome (AHS) is a mitochondrial DNA-depletion syndrome. Age of onset is bimodal: early onset at 2-4 years and later adolescent onset at 17-24 years of age. Early development is usually normal, with epilepsy heralding the disorder in ~50% of patients. The onset of seizures is coupled with progressive cognitive decline. Hepatopathy is variable, and when present is a progress...
متن کاملAlpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in th...
متن کاملMolecular diagnosis of Alpers syndrome.
BACKGROUND/AIMS Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder. METHODS The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG muta...
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ژورنال
عنوان ژورنال: Radiology
سال: 2018
ISSN: 0033-8419,1527-1315
DOI: 10.1148/radiol.2017151748