What is Porencephaly?
Porencephaly is an extremely rare form of central nervous system disorder mostly seen in infants where there is development of cysts or cavities in the cerebral hemisphere. These cysts or cavities are normally formed due to destructive cystic brain lesions. These cysts or cavities can also be formed due to abnormal fetal development, inflammation, or a direct damage to the brain. These cysts or cavities may result in numerous physical and neurological problems for the infant in majority of the cases, although there have been cases where Porencephaly has not caused much difference in the development of the child. Children with severe cases of Porencephaly are not able to survive more than two decades of their lives. Porencephaly can develop after and before birth.
What are the Causes of Porencephaly?
The exact cause of Porencephaly is still unknown but it is believed to be caused due to destructive lesions in the brain causing destruction of the brain tissues thus damaging the brain severely. An absence of cerebral development of the fetus is also one of the causes of Porencephaly. Some researchers also are of the opinion that Porencephaly can be caused by some sort of abnormality in the blood circulation causing damage to the brain resulting in Porencephaly.
What are the Symptoms of Porencephaly?
The symptoms exhibited by patients with Porencephaly are highly variable. Some infants with severe form of this condition may show wide variety of symptoms while infants with mild form of Porencephaly may exhibit no symptoms at all.
The various signs and symptoms that are commonly associated with Porencephaly are mentioned below:
- Mental retardation
- Developmental delays
- Cognitive impairments
- Speech abnormalities
- Poor motor control
- Cerebral palsy
- Loss of voluntary movement.
How is Porencephaly Diagnosed?
The diagnosis of Porencephaly begins with the doctor taking a detailed history of the patient. A detailed family history of the patient will also be taken looking for any other family members with the same symptoms or having a confirmed diagnosis of Porencephaly. A detailed neurological examination of the patient may also be performed to check out for other features of Porencephaly. Radiological studies in the form of CT and MRI scan may be ordered to rule out other conditions of the brain that may be causing the symptoms.
Transillumination of the skulls of infants who are suspected to have Porencephaly is the best way to diagnose this condition definitively as it clearly shows the cysts and cavities in the cerebral hemisphere thus confirming the diagnosis of Porencephaly. Porencephaly can also be diagnosed prenatally via ultrasound which will clearly show presence of cysts or cavities and an underdeveloped cerebral hemisphere of the baby. The above tests are enough to confirm the diagnosis of Porencephaly.
How is Porencephaly Treated?
As of now, there is no definite cure for Porencephaly. Research is still ongoing as to the causes of it and how to treat it. As of now, treatment is mainly supportive and consists of:
- Rehabilitation exercises for restoring some voluntary movement
- Physical therapy for strengthening the muscles that are weak
- Speech and language therapy for making the child somewhat independent and be able to communicate with others
- The Porencephaly patient can also undergo surgery for complete removal of the cyst from the cerebral hemisphere
- To control seizures that occur due to Porencephaly, medications in the form of anticonvulsants are given to control the seizures.
- For infants with hydrocephalus due to Porencephaly, use of a VP shunt is advised to remove excess fluid from the brain.
What is the Prognosis of Porencephaly?
The prognosis of Porencephaly is dependent on the severity of the condition and the location of the cysts along with how much damage has been done to the brain. For mild cases of Porencephaly, there may no symptoms observed and the child may lead a healthy life. Children with moderate form of this condition may lead a normal life with proper treatment, medication, rehab, and physical therapy but in most severe cases the child may not be able to survive more than two decades of life due to Porencephaly.
- National Institute of Neurological Disorders and Stroke (NINDS). (2021). Porencephaly Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Porencephaly-Information-Page
- Sharma, S., & Sharma, V. (2019). A review of porencephaly. Journal of Pediatric Neurosciences, 14(1), 1-4. https://doi.org/10.4103/JPN.JPN_115_18
- Kaddurah, A. K., & Sujirarat, W. (2020). Porencephaly. In StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK538453/
- Genetic and Rare Diseases Information Center (GARD). (2021). Porencephaly. https://rarediseases.info.nih.gov/diseases/7317/porencephaly
- Agrawal, R., & Gupta, D. K. (2018). Neuroimaging and neuropathology in porencephaly. Journal of Pediatric Neurosciences, 13(4), 427-428. https://doi.org/10.4103/JPN.JPN_118_18