Porencephaly is a rare type of cephalic disorder that involves cystic degeneration and encephalomalacia. This neurological disorder affects the central nervous system by causing the formation of porencephalic cysts or cavities within the cerebral hemisphere. The cysts are usually residuals of lesions. An extreme form of Porencephaly is known as hydranencephaly.
Porencephaly is classified into two types: Familial and Sporadic porencephaly. Familial porencephaly is caused by genetic factors and its associated with defects linked to the COL4A1 gene. On the other hand, sporadic porencephaly is caused by external and lifestyle factors such as infections, maternal diabetes, smoking and accidents.
Porencephaly affects both men and women. There are many factors that cause this disorder. Largely, this condition is caused by the absence of brain development and damaged brain tissue. Patients who suffer from porencephaly exhibit both mild and severe symptoms.
Some of the risk factors that contribute to the development of cysts and cavities associated with porencephaly include:
- Drug abuse
- Accidents
- Hemorrhage
- Vascular occlusion
- Endotoxins
- Pathogenic infections
Effects of Porencephaly in women
Patients diagnosed with porencephaly generally suffer from developmental delays and epileptic seizures. However patients with mild symptoms exhibit less or no seizures at all. Other effects of porencephaly in women include:
Intellectual and cognitive disabilities
Paralysis of the appendages
Poor mental growth
Cerebral white-matter lesions
Hypotonia or lack of muscle tone.
Hemiplegia
Microcephaly-An abnormally small head
Macrocephaly-An abnormally large head
Cerebral palsy – This causes movement difficulties.
Tetraplegia
Cerebral lesions
Epileptic seizures
Poor growth and development
Contractures
This involves shortening of the muscles. The contraction of muscles is usually very painful and may affect motion.
Porencephaly may cause paralysis of the limbs. This leads to loss of functionality. A woman may not be able to walk properly or even hold things properly.
Severely affected women may portray poor or absent speech development, epilepsy, and mental retardation.
Porencephaly in women can also cause blood vascular diseases such as cerebral infarction and intracerebral hemorrhage
Spastic paresis- A woman experiences loss of or weakness in voluntary movement.
Other effects of porencephaly in women are:
#Accumulation of cerebrospinal fluid in the brain.
#Poor motor control
#abnormal movements of the appendages
Treatment
At the moment, the cure for this rare disorder has not been established. However, there are several tried and tested treatment options that can be used to manage this condition . Some of them are:
- Physical therapy
- Rehabilitation
- Anticonvulsants
- Surgical removal of the cysts
- Administration of anti-epileptic drugs
- Use of a shunt to drain the excess fluid fro the brain
- Medications such as valproate and clobazam can also be used.
Prevention
One of the ways to prevent Porencephaly is to undergo serologic testing in order to detect cytomegalovirus during pregnancy.
Genetic counseling is another preventive measure that can lower the risk of recurrence when associated with familial cases.
Medical imaging tests such as magnetic resonance imaging (MRI), ultrasonography, and computed toography (CT) are used by medical experts to check for the presence of neurological disorders such as Porencephaly.
Mild state of Porencephaly can actually be managed with various treatment options. However, severe Porencephaly is very fatal and could result in death.