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20-September-2008 10:08:29 - Alpers' disease Alpers' disease Classification and external resources ICD-10 G31.8 ICD-9 330.8 OMIM 203700 DiseasesDB 29298 MeSH D002549 Alpers' disease, also called Alpers' syndrome,1 Alpers' Huttenlocher disease, progressive neuronal degeneration of childhood,1 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 that is sometimes seen in siblings. It is also thought that Alpers' syndrome is a transmissible spongiform encephalopathy disease caused by a prion23. Contents 1 Presentation 2 Treatment 3 Prognosis 4 Eponym 5 Notes 6 References 7 Further Reading Presentation 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 metabolic defect, no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter. Treatment There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone. Prognosis The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur. Eponym It is named for Bernard Jacob Alpers.45 Notes ^ a b 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. ^ Chakraborty, C., Nandi, S. and Jana, S. 2005.Current Pharmaceutical Biotechnology, 6:167-177 ^ Obi, R. K. and NwanebuAfrican, F. C. 2008 Journal of Clinical and Experimental Microbiology. 91:38-52 ^ Bernard Jacob Alpers at Who Named It ^ Alpers' disease at Who Named It References Alpers' Disease Information Page. Website. National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health. Non-Profit Organization. Website. Dedicated to research and education for mitochondrial diseases The Nicholas Appeal Website. Non-charitable trust v d e Pathology of the nervous system, primarily CNS G00-G47, 320-349 Inflammatory Meningitis Arachnoiditis - Encephalitis - Myelitis - Encephalomyelitis Acute disseminated - Tropical spastic paraparesis - Cavernous sinus thrombosis Systemic atrophies Huntington's disease - Spinocerebellar ataxia Friedreich's ataxia, Ataxia telangiectasia, Herary spastic paraplegia - Spinal muscular atrophy: Werdnig-Hoffman - Kugelberg-Welander - Fazio-Londe - MND ALS, PMA, PBP, PP, PLS Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia/Dyskinesia Spasmodic torticollis, Meige's, Blepharospasm - Essential tremor - Myoclonus - Lafora - Chorea Choreoathetosis - Restless legs - Stiff person Other degenerative/ demyelinating diseases dementia: Alzheimer's - Pick's - Dementia with Lewy bodies - Frontotemporal lobar degeneration mitochondrial disease: Leigh's demyelinating: Multiple sclerosis - Devic's - Central pontine myelinolysis - Transverse myelitis - Marchiafava-Bignami disease - CAMFAK syndrome - Alpers' Seizure/epilepsy Focal - Generalised - Status epilepticus - Myoclonic epilepsy Headache Migraine Familial hemiplegic - Cluster - Vascular - Tension Vascular Transient ischemic attack Amaurosis fugax, Transient global amnesia Cerebrovascular disease MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke Sleep disorders Insomnia - Hypersomnia - Sleep apnea Obstructive, Ondine's curse - Narcolepsy - Cataplexy - Kleine-Levin - Circadian rhythm sleep - Delayed sleep phase - Advanced sleep phase Intracranial hypertension Hydrocephalus Normal pressure - Idiopathic intracranial hypertension Other encephalopathy Brain herniation - Cerebral edema - Reye's Other spinal cord disease Syringomyelia - Syringobulbia - Morvan's syndrome - Spinal cord compression Further Reading 1 Retrieved from http://en..org/wiki/Alpers%27_disease Categories: Neurological disorders Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Deutsch Polski Suomi This page was last modified on 22 July 2008, at 22:1
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