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Alpers' disease
Alpers' disease, also called Alpers' syndrome,〔Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) ("Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study" ) ''Journal of Neurology Neurosurgery and Psychiatry'', 2004;75:910-913. (Fee for full text.) Retrieved on 2007-09-27.〕 progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder meaning two copies of the defective gene is required for active disease, a single copy conveys carrier status. Alpers' disease is caused by certain genetic mutations in the ''POLG'' gene.
==Presentation==
Alpers' formal name is Alpers-Huttenlocher syndrome (AHS). It was first recognized by Alfons Maria Jakob, a German neuropathologist. First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive intellectual disability, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. Alpers' disease is caused by an underlying mitochondrial metabolic defect of ''POLG'',.〔Davidzon, G.; Mancuso, M.; Ferraris, S.; Quinzii, C.; Hirano, M.; Peters, H. L.; Kirby, D.; Thorburn, D. R.; DiMauro, S. :
POLG mutations and Alpers syndrome. Ann. Neurol. 57: 921-924, 2005.〕 Pathologically, there is status spongiosus of the cerebral grey matter.
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