Causes of west syndrome:
1. Usually, a specific cause is detected in 70 to 75 5 patients with the west syndrome.
2. From trauma to brain malformations, any other brain disorder can be a cause of the west syndrome.
3. Chromosomal abnormalities such as Down syndrome, neurocutaneous disorders such as tuberous sclerosis complex (TSC), Sturge Weber syndrome, and incontinentia pigmenti can be the cause of west syndrome to develop.
4. Different metabolic/genetic diseases such as pyridoxine deficiency, non-ketotic hyperglycemia, maple syrup urine disorder, phenylketonuria, mitochondrial encephalopathies, biotinidase deficiency, Otahara’s syndrome, and an abnormality (mutation) in the ARX gene or CDKL5 gene located on the X chromosome. are the cause of the west syndrome
5. TSCtuberous sclerosis complex is the most common disorder the cause of the west syndrome.
TSC is an autosomal genetic condition associated with seizures, eye, heart, and kidney tumors or skin conditions.
6. X-linked West syndrome can be caused by a mutation in the CDKL5 gene or the ARX gene in the X chromosome. X-linked genetic disorders are conditions caused by a non-working gene on the X chromosome and manifest mostly in males.
7. Females that have a non-working gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the non-working gene.
8. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a non-working gene he will develop the disease.
9. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.
10. If a male with an X-linked disorder can reproduce, he will pass the non-working gene to all of his daughters who will be carriers.
The child's body may suddenly bend forward and the arms and legs stiffen,Some children arch their backs while extending their arms and legs
Involuntary muscle spasms that occur due to episodes of uncontrolled electrical disturbances in the brain (seizures)
Adrenocorticotropic hormone (ACTH),Prednisone,Vigabatrin,Pyridoxine