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韋氏症-嬰兒痙攣症

Name of disease:

West Syndrome-Infantile Spasms

ICD-10 diagnosis code:

G40.4

Causes:

West Syndrome can have autosomal dominant or X-linked recessive pattern of inheritance. X-linked recessive type of West syndrome is associated with the mutation of CDKL5 and ARX gene. Autosomal dominant type of West syndrome is associated with tuberous sclerosis complex.

Mode of inheritance:

Cases of West Syndrome are inherited in family in autosomal dominant or X-linked recessive pattern of inheritance

Prevalence:

1.6/100,000

Diagnosis:

Diagnosis of West syndrome is based on specific tests, including electroencephalography, computed tomography (CT) and magnetic resonance imaging (MRI) Molecular genetic testing for ARX and CDKL5 gene mutation can also be used to confirm X-linked recessive type West syndrome

Age of onset:

At birth or infant

Common signs and symptoms:

Epileptic spasm Seizure and stiffening of body Delay in acquiring skills that require coordination of muscles and voluntary movement Loss of appetite Changes in sleep patterns Delayed mental development

Available treatments (medicinal and non-medicinal):

Anticonvulsant drugs might be used to reduce and control seizure. Other drugs may also be used to treat epileptic spasm including adrenocorticotropic hormone (ACTH) and prednisone.

Disease management tips:

According to some research, ketogenic diet has been successful in the treatment of epileptic spasm. For autosomal dominant type of West syndrome, which is associated with tuberous sclerosis complex, we may perform epilepsy surgery to control spasm. However, there are some side effects related to the drugs used to control spasm. For example, ACTH may cause immunosuppression, hypertension, gastric issues, agitation and irritability If children with West syndrome shows developmental delay, occupation therapy and physical therapy may help.

References:

https://rarediseases.org/rare-diseases/west-syndrome/ https://www.cedars-sinai.org/health-library/diseases-and-conditions/w/west-syndrome.html

Other useful websites:

More about the disease:https://www.webmd.com/children/what-is-west-syndrome Patient groups: Charcot-Marie-Tooth Association https://www.cmtausa.org