Alpers' Disease - Presentation

Presentation

Alpers' formal name is Alpers-Huttenlocher syndrome (AHS). 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 mental retardation, 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. While some researchers believe that Alpers' disease is caused by an underlying mitochondrial metabolic defect of POLG, no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter. It has been hypothesized that Alpers' disease may be caused by a proteinaceous infectious particle, better known as a prion. Prions are thought to be the pathogen responsible for the group of extremely rare, incurable and degenerative neurological disorders known as transmissible spongiform encephalopathy (TSE's). Diseases such as Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, Fatal Familial Insomnia, and Kuru are all caused by prions. In animals, the TSE's Scrapie and more importantly Bovine Spongiform Encephalopathy (BSE), better known as "mad cow disease", are prion-induced as well. These encephalopathies present in much the same way as Alpers' disease, sharing the characteristic vacuole laden holes that cause brain tissues to have a "sponge-like" texture when viewed under a microscope, hence the term spongiform. This new possible explanation of the cause of Alpers' disease has caused dispute within the scientific community.