Porencephaly
| Porencephaly | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | G93.0, Q04.6 |
| ICD-9-CM | 348.0, 742.4 |
| OMIM | 175780 |
| DiseasesDB | 33031 |
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral 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 in the brain'. 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. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. 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.
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.
The following text lists out common signs and symptoms of porencephaly in affected individuals along with a short description of certain terminologies.
Porencephaly is a rare disorder. The exact prevalence of porencephaly is not known; however, it has been reported that 6.8% of patients with cerebral palsy or 68% of patients with epilepsy and congenital vascular hemiparesis have porencephaly. Porencephaly has a number of different, often unknown, causes including absence of brain development and destruction of brain tissue. With limited research, the most commonly regarded cause of porencephaly is disturbances in blood circulation, ultimately leading to brain damage. However, a number of different and multiple factors such as abnormal brain development or damage to the brain tissue can also affect the development of porencephaly.
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