Cephalic disorder involving cysts or cavities in the brain
Medical condition
Porencephaly
Specialty
Medical genetics, neurology
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia.[1] It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere.[2] Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain.[3] Derived from Greek roots, the word porencephaly means 'holes in the brain'.[4] The cysts and cavities (cystic brain lesions) are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage.[5] The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms.[6] Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while others may be severely disabled or die before the second decade of their lives. However, this disorder is far more common within infants, and porencephaly can occur both before or after birth.[2]
^Gul A, Gungorduk K, Yildirim G, Gedikbasi A, Ceylan Y (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. S2CID 26880094.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ abParker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ICON Health Publications.
^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. doi:10.1293/tox.25.45. PMC 3320157. PMID 22481858.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^Maria Gieron-Korthals; José Colón (2005). "Hypoxic-ischemic encephalopathy in infants: new challenges". Fetal and Pediatric Pathology. 24 (2). Taylor & Francis. ... Porencephaly (Greek for 'holes in the brain') are hemispheric cavitary lesions that typically communicate with the ventricular system....
^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. doi:10.1002/ana.20184. PMID 15293282. S2CID 33972596.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^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. doi:10.1016/j.ajhg.2011.11.016. PMC 3257897. PMID 22209246.{{cite journal}}: CS1 maint: multiple names: authors list (link)
hemisphere. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek roots, the word porencephaly means 'holes...
and psychomotor retardation. Schizencephaly can be distinguished from porencephaly by the fact that in schizencephaly, the fluid-filled component is entirely...
Autosomal dominant porencephaly type I is a rare type of porencephaly that causes cysts to grow on the brain and damage to small blood vessels, which can...
confirmed that mutations in the COL4A1 gene occur in some patients with porencephaly and schizencephaly. In humans, a novel mutation of the COL4A1 gene coding...
syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. The symptoms...
also capable of revealing treatable conditions, such as hydrocephalus, porencephaly, arteriovenous malformation, subdural hematomas and hygromas, and a vermian...
cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC) (2011), Porencephaly (2012), and Coffin–Siris syndrome (2012). Matsumoto has been the editor-in-chief...
neuronal migration errors, absent olfactory bulbs, meningomyelocele, and porencephaly. When structural impairments are not observable or do not exist, neurological...
misdiagnosed.[citation needed] Hydranencephaly is an extreme form of porencephaly, which is characterized by a cyst or cavity in the cerebral hemispheres...
hemispheres of the brain. Cerebral malformations such as hemimegalencephaly, porencephaly, Aicardi syndrome, olivary-dentate dysplasia, agenesis of mamillary bodies...
Williams, D. (September 1939). "Unusual Cortical Potentials in a Case of Porencephaly". Proc R Soc Med. 32 (11): 1417–1419. doi:10.1177/003591573903201141...
June 1894'. Journal of Mental Science. 40: 487–99. (1894). 'A Case of Porencephaly'. Journal of Mental Science 40: 649–65. (1896). 'The domestic treatment...
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