Porencephaly
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| Porencephaly | |
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| Classification and external resources | |
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| ICD-10 | G93.0, Q04.6 |
| ICD-9 | 348.0, 742.4 |
| OMIM | 175780 |
| DiseasesDB | 33031 |
Porencephaly is a type of cephalic disorder involving encephalomalacia.[1] This is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth.
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[edit] Causes
Porencephaly most likely has a number of different, often unknown causes, including absence of brain development and destruction of brain tissue.
An association with COL4A1 has been described.[2][3]
[edit] Diagnosis
The presence of porencephalic cysts can sometimes be detected by transillumination of the skull in infancy. The diagnosis may be confirmed by CT, MRI, or ultrasonography. The diagnosis can be made antenatally with ultrasound.
[edit] Presentation
More severely affected infants show symptoms of the disorder shortly after birth, and the diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis), hypotonia (decreased muscle tone), seizures (often infantile spasms), and macrocephaly or microcephaly.
Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation.
[edit] Treatment and prognosis
Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus. The prognosis for individuals with porencephaly varies according to the location and extent of the lesion. Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled. Others may die before the second decade of life.
[edit] References
- ^ 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.
- ^ van der Knaap MS, Smit LM, Barkhof F, et al. (March 2006). "Neonatal porencephaly and adult stroke related to mutations in collagen IV A1". Ann. Neurol. 59 (3): 504–11. doi:10.1002/ana.20715. PMID 16374828.
- ^ Gould DB, Phalan FC, Breedveld GJ, et al. (May 2005). "Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly". Science 308 (5725): 1167–71. doi:10.1126/science.1109418. PMID 15905400. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=15905400.
[edit] External links
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