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Porencephaly is an extremely rare cephalic disorder involving encephalomalacia.〔Gul A, Gungorduk K, Yildirim G, Gedikbasi A, Ceylan Y (May 2009). "Prenatal diagnosis of porencephaly secondary to maternal carbon monoxide poisoning". Arch. Gynecol. Obstet. 279 (5): 697–700. doi:10.1007/s00404-008-0776-3. PMID 18777036.〕 It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere.〔Parker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ICON Health Publications.〕 Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain.〔Hirowatari, C. , Kodama, R. , Sasaki, Y. , Tanigawa, Y. , Fujishima, J. , et al. (2012). Porencephaly in a Cynomolgus Monkey ( Macaca Fascicularis ). Journal of Toxicologic Pathology, 25(1), 45-49.〕 The cysts and cavities are usually the result of destructive or cystic brain lesions but can also be from abnormal development, direct damage, inflammation, or hemorrhage.〔Debus, O. , Kosch, A. , Strater, R. , Rossi, R. , & Nowak-Gottl, U. (2004). The Factor V G1691A Mutation is a Risk for Porencephaly: A Case-control Study.Annals of Neurology, 56(2), 287-290.〕 The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms.〔Yoneda, Y. , Haginoya, K. , Arai, H. , Yamaoka, S. , Tsurusaki, Y. , et al. (2012). De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly. Am J Hum Genet, 90(1), 86-90.〕 Depending on the patient, this disorder may cause only minor neurological problems, without any disruption on intelligence, while others may be severely disabled or face death before the second decade of their lives. However, this disorder is far more common within infants, and porencephaly can occur in both before or after birth.〔 ==Signs and Symptoms== Patients diagnosed with porencephaly display a variety of symptoms, from mild to severe effects on the patient. Patients with severe cases of porencephaly suffer epileptic seizures and developmental delays, whereas patients with a mild case of porencephaly display little to no seizures and healthy neurodevelopment. Infants with extensive defects show symptoms of the disorder shortly after birth, and the diagnosis is usually made before the age of 1.〔〔Shimizu, M. , Maeda, T. , & Izumi, T. (2012). The Differences in Epileptic Characteristics in Patients with Porencephaly and Schizencephaly. Brain Dev, 34(7), 546-552.〕 The following text lists out common signs and symptoms of porencephaly in affected individuals along with a short description of certain terminologies.〔〔〔〔Gould, D. , Phalan, F. , Breedveld, G. , van Mil, S. , Smith, R. , et al. (2005). Mutations in Col4a 1 Cause Perinatal Cerebral Hemorrhage and Porencephaly.Science, 308(5725), 1167-1171.〕 *Degenerative or non-degenerative cavities or cysts *Delayed growth and development *Spastic paresis - weakness or loss in voluntary movement *Contractures - painful shortening of muscles affecting motion *Hypotonia - reduced muscle strength *Epileptic seizures and epilepsy - multiple symptoms that involve sudden muscle spasms and loss of consciousness *Macrocephaly - condition where head circumference is larger compared to other children of a certain age *Microcephaly - condition where head circumference is smaller compared to other children of a certain age *Hemiplegia - paralysis of appendages *Tetraplegia - paralysis of limb leading to loss of function *Intellectual and cognitive disability *Poor or absent speech development *Hydrocephalus - accumulation of cerebrospinal fluid in the brain *Mental retardation *Poor motor control, abnormal movements of appendages *Cerebral palsy - a motor condition causing movement disabilities *Blood vascular diseases such as intracerebral hemorrhage and cerebral infarction. *Cerebral white-matter lesions 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「porencephaly」の詳細全文を読む スポンサード リンク
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