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Congenital CNS Abnormalities
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What are Congenital CNS Abnormalities?

Birth malformations of the physical structure of the brain or spinal cord that arise during foetal intrauterine growth are known as congenital abnormalities of the CNS. This umbrella word comprises a wide range of illnesses and medical conditions, ranging from mild to severe anomalies, such as spina bifida (in which the spinal cord does not form properly) and microcephaly (in which brain growth is slowed).

What Causes Congenital CNS Abnormalities?

A variety of reasons can cause congenital CNS abnormalities. Genetic factors play a role in some of them. In other circumstances, exposure to one or more of the following (multifactorial) factors can contribute to the development of a CNS

Abnormality: alcohol, smoking, narcotics, vitamins, pharmaceuticals, environmental pollutants, other hazardous substances, or some viruses that infect the infant while in the womb. Many infants have no known or recognised cause.

What are the Various Types Of Congenital CNS Abnormalities?

  • Anencephaly- Anencephaly occurs when the head end of the neural tube fails to seal, resulting in the loss of a significant amount of the skull and brain. Because part of the skull is removed, brain tissue is accessible.
  • Encephalocele- Encephalocele is a condition in which a piece of the brain protrudes through a hole in the skull. The bulge is usually found at the back of the skull, along the front-to-back midline.
  • Arnold-Chiari, also known as Chiari II, is a condition in which a portion of the cerebellum, a brain region that regulates motor function, is moved downward into the upper spinal column. The brain or spinal cord is squeezed as a result of this.
  • Hydrocephalus- Hydrocephalus, also known as “fluid on the brain,” is a condition in which there is an excessive build-up of cerebrospinal fluid (CSF) due to poor CSF circulation. When there is too much fluid in the body, it can place undue pressure on the brain.
  • Dandy-Walker syndrome is characterised by the absence or abnormal growth of the cerebellum’s central portion.
  • Holoprosencephaly-It is a condition in which the brain is not divided into two parts or hemispheres.
  • Microcephaly-It is a condition in which the brain does not fully grow. Microcephaly is a condition caused by the Zika virus.
  • Megalencephaly-It is a condition in which a person’s brain is unusually huge or massive.

What are the Symptoms of Congenital CNS Abnormalities?

Congenital brain abnormalities have a wide range of symptoms. Each deficiency has its own set of symptoms and limitations.

Some of these signs may not appear until the child exhibits developmental or growth impairments after birth. Symptoms of certain congenital brain abnormalities do not appear until maturity. Some people never show any signs or symptoms.

Children with congenital brain abnormalities may also suffer from:

  • Cardiovascular illnesses
  • Gastrointestinal abnormalities
  • Cleft lip and palate (cleft lip and palate)
  • Seizures
  • A headache
  • Muscle wasting
  • Vision impairment
  • Difficulties with bowel and bladder

How are Congenital CNS Abnormalities Diagnosed?

It is possible to identify a congenital brain defect through prenatal screening with the help of Chorionic Villus Sampling (CVS).CVS is done when a mother is between 10 to 12 weeks pregnant. CVS can only identify genetic defects, so not all congenital brain defects can be identified with this procedure. That is why, in some cases, an accurate diagnosis may not be available until after birth, as indications such as intellectual impairments, delayed behaviour, or seizures become more evident after childbirth and growth.

By using a comprehensive ultrasound, the doctor may be able to detect a congenital brain problem. If more research is required, an MRI scan of the foetus’s brain and the spine may be performed.

How is a Congenital CNS Abnormality Treated?

Treatment differs depending on the condition’s kind and severity. Many therapies will concentrate on alleviating symptoms. Anticonvulsant drugs, for example, can assist in minimising seizure episodes.

Surgery can be used to address several disorders. Decompression surgery can increase the amount of space available for the brain and cerebrospinal fluid where it is required. Surgery to repair faulty skulls can allow the brain to grow properly again. The cerebrospinal fluid that builds up in hydrocephalus can be drained using shunts.

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