Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

West Syndrome

Also known as epileptic spasms or infantile spasms.

What is West Syndrome?

• This is a rare epileptic disorder that first occurs during infancy.
  • Symptoms usually begin between the third and twelfth month of life
• In its modern definition, West syndrome is characterized by three defining signs:
  • Developmental regression
  • Pathognomonic EEG (electroencephalography) patterns
  • Infantile spasms
• First described in 1841 by William James West, a physician from England
  • The case originally described symptoms he identified in his own son

How Do You Get it?

• The bio-chemical mechanism behind West syndrome is still not understood
• The cause is believed to be an organic dysfunction of the brain that can occur before, during, or after birth.
• Other rare disorders that are linked to West syndrome include:
  • Aicardi syndrome
  • Hypoglycemia
  • Sturge-Weber syndrome
• West syndrome also occurs in about 5 percent of Down syndrome cases
• When the patient has another disorder but a direct cause hasn’t been identified, the case is referred to as ‘cryptogenic’ West syndrome
• Idiopathic cases with no clear cause at all also exist
• Certain genetic mutations affecting the CDKL5 and ARX genes are also associated with the syndrome.

What Are The Symptoms?

• Symptoms include:
  • Developmental regressions
  • Epileptic seizures
• Seizures in West syndrome are separated into three cateogories:
  • Lightning attacks – These are severe and sudden attacks of myoclonic convulsions that occur in a matter of seconds and can impact the entire body or multiple areas at once. The legs are typically bent.
  • Jackknife attacks – Spasms of the flexor muscles that causes the arms to raise and bend while the head and torso are bent forward. The arms may flail or be drawn towards the chest.
  • Nodding attacks – The head is drawn inwards and the chin is pulled towards the chest. The neck flexor and throat muscles are affected.

How Is It Treated?

• Treatment options are limited for West syndrome
• Common approaches include prednisone and adrenocorticotrophic hormone (ACTH).
  • In the US, prednisone is most common because ACTH is very costly
• Some patients are also treated with vigabratrin, but this treatment risks vision problems when used for a long period.
• In some cases, epilepsy surgery is considered.

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the Epilepsy Foundation.