Porencephaly
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| Porencephaly Classification and external resources | |
| ICD-10 | Q04.6 |
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| ICD-9 | 742.4 |
| OMIM | 175780 |
| DiseasesDB | 33031 |
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Overview
Porencephaly is a type of cephalic disorder. 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.
Causes
Porencephaly most likely has a number of different, often unknown causes, including absence of brain development and destruction of brain tissue.
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.
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.
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.
External links
Congenital malformations and deformations of nervous system (Q00-Q07, 740-742) | |
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| Brain | Anencephaly (Acephaly, Acrania, Iniencephaly) - Encephalocele - Microcephaly - Congenital hydrocephalus (Dandy-Walker syndrome) - other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) - Septo-optic dysplasia - Megalencephaly - Congenital cerebral cysts (Porencephaly, Schizencephaly) - Congenital brain tumors |
| Brain stem | Arnold-Chiari malformation |
| Spinal cord | Spina bifida - Currarino syndrome - Sacrococcygeal teratoma - Diastematomyelia - Syringomyelia |
| see also non-congenital CNS and PNS (G, 320-359) | |
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
