Porencephaly

Overview

Porencephaly is a structural abnormality of the brain. It may manifest before or after birth. It is a very rare disorder that affects your central nervous system, children with this condition develop fluid-filled cavities, or cysts, on their brain. These brain cysts can delay and impair your child’s growth and development. These cysts can interfere with normal brain growth and development. Children with porencephaly may experience speech difficulties. They may also have other neurological deficits (abnormal functioning in areas of their body).However, on rare occasions, it can be related to an inherited genetic condition. There is no clear cure for porencephaly. However, there are many ways to manage its effects. Treatments focus on improving neurological impairments. If hydrocephalus is present, excess fluid around your child’s brain can be drained.

SYMPTOMS

Possible symptoms include:

Motor delay (differences in muscle tone, movement, posture, or developmental milestones)
Speech and language delay
Learning challenges
Cognitive or intellectual differences
Slow overall growth
Developmental delays in multiple areas (global delays)
Seizures
Spastic hemiplegia (stiffness and weakness in limbs)
Hypotonia (low muscle tone)
Macrocephaly (large head)
Microcephaly (small head)
Hydrocephalus (increased pressure in the brain)

Causes

With a lack of oxygen or bleeding in your child’s brain, fluid-filled cysts can replace normal brain tissue. This is more likely to happen if the following risk factors are present:

Alcohol or drug use during pregnancy.
Gestational diabetes.
Infection during pregnancy.
Infection shortly after birth.
Trauma during birth.
Other causes of stroke or lack of oxygen to their brain (like blood disorders and metabolic diseases). Sometimes, healthcare providers can find clues about the underlying cause based on the location, size and distribution of the cysts.

Some types of porencephaly are genetic and can be inherited. This means that a person only needs one abnormal gene copy to show symptoms. The abnormal gene can be inherited from a mother or father. A person with a COL4A1 or COL4A2 gene mutation has a 50 percent chance of passing on condition. Two people with the same mutation may have very different symptom severity.

Diagnosis

To confirm a diagnosis of porencephaly, your healthcare provider needs to see detailed images of your child’s brain. You or your child may have imaging tests like:

Prenatal ultrasound or ultrasound.
CT scan.
MRI.

Management and Treatment

There is no clear cure for porencephaly. This structural abnormality cannot be reversed. However, there are treatments that can help with symptoms arising in the aftermath of porencephaly.

Symptoms and Available Treatments

Cognitive, speech, language, or motor delays. Physical therapy, occupational therapy, special instruction, and speech therapy can be very effective.
Learning challenges. Working closely with school systems to generate individualized educational plans and support can be helpful. Special education programs can also help.
Seizures. Various medications can be used to treat seizures. There may be dietary and surgical options as well
Spasticity. Medications can manage high tone or stiffness in muscles. For instance, injections of botulinum toxin can help loosen muscles or medications such as baclofen are commonly used.
Adaptive equipment. Braces and adaptive equipment can significantly improve a child’s functioning and quality of life.
Hydrocephalus. This is increased pressure in the brain. Depending on the specific location of the porencephaly, a resection or surgical shunt can relieve this pressure.

Outlook

Outcomes can vary widely depending on the size and location of the fluid-filled cysts. Some children have mild or no symptoms. They may not even be diagnosed. Others may have some mild learning challenges. They may have treatable seizures or motor tone abnormalities. Children in this moderate category do very well with supportive treatment.

Still others may have more severe secondary symptoms. They may have larger cysts. Their cysts may be in problematic brain locations. These children may have been diagnosed soon after birth. Supportive care, therapies, and special education programs can go a long way. They can improve the long-term outcomes of these children.

Further, if you come across with this type of condition nearby in your country or with your friends or relatives you can share us the latest reports available via, email (query@gtsmeditour.com) or you can whatsapp the reports on +919880149003 and get free medical opinion from our panel of doctors and further support for the right treatment.

Thank you..!

Global Treatment Services