Alpers syndrome: progressive neuronal degeneration of children with liver disease
نویسندگان
چکیده
منابع مشابه
Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults.
Two unrelated and previously healthy girls, aged 17 and 18, presented with a subacute encephalopathy, visual and sensory symptoms and signs, and prominent seizures that were difficult to control. Brain MRI showed lesions (high signal on T2 weighted images) in the occipital lobes and thalamus; EEG showed slow wave activity with superimposed polyspikes. Inexorable downhill progression led to deat...
متن کاملProgressive cerebral poliodystrophy--Alpers' disease. Disorganized giant neuronal mitochondria on electron microscopy.
Three siblings who suffered from progressive mental retardation, seizures, and rigidity showed degeneration of the cerebral cortex. This was manifested by severe to complete neuronal loss with astrogliosis and microgliosis. In one child a brain biopsy was performed at the age of 3 months. The only lesion found was large disorganized perinuclear mitochondria in the neurones. The possibility that...
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INTRODUCTION Corticobasal syndrome (CBS) has a heterogeneous clinical presentation with no specific pathologic substratum. Its accurate diagnosis is a challenge for neurologists; in order to establish CBS definitively, postmortem confirmation is required. Some clinical and radiological features can help to distinguish it from other neurodegenerative conditions, such as Creutzfeldt-Jakob disease...
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: Developmental Medicine & Child Neurology
سال: 2007
ISSN: 0012-1622,1469-8749
DOI: 10.1111/j.1469-8749.2006.tb01275.x