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Saul Wilkes Stevenson Syndrome

Last updated May 29, 2018

Approved by: Maulik P. Purohit MD, MPH

Saul Wilkes Stevenson Syndrome is characterized by changes in skin pigmentation, severe mental retardation, and delayed psychomotor development, which may occur with recurrent seizures.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Ganglioside GM3 Deficiency Syndrome
  • Infantile-Onset Symptomatic Epilepsy Syndrome
  • Salt and Pepper Mental Retardation Syndrome

What is Saul Wilkes Stevenson Syndrome? (Definition/Background Information)

  • Saul Wilkes Stevenson Syndrome is characterized by changes in skin pigmentation, severe mental retardation, and delayed psychomotor development, which may occur with recurrent seizures
  • This condition, described by Saul and coworkers in 1983, falls under the umbrella term “Salt and Pepper Mental Retardation Syndrome”
  • Saul Wilkes Stevenson Syndrome is inherited in an autosomal recessive manner

Who gets Saul Wilkes Stevenson Syndrome? (Age and Sex Distribution)

  • Saul Wilkes Stevenson Syndrome is a rare congenital disorder. The presentation of symptoms may occur in infancy
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Saul Wilkes Stevenson Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Saul Wilkes Stevenson Syndrome is an inherited condition
  • Children born to consanguineous parents (close blood relatives, such as first cousins or siblings) may be at risk for developing the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Saul Wilkes Stevenson Syndrome? (Etiology)

  • Although the genetic cause of Saul Wilkes Stevenson Syndrome was not elaborated in the original publication in 1983, subsequent studies suggest that this condition may be caused by mutation(s) in ST3GAL5 gene
  • ST3GAL5 gene mutations are inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Saul Wilkes Stevenson Syndrome?

The signs and symptoms of Saul Wilkes Stevenson Syndrome may include:

  • Changes in skin pigmentation, more frequently in the face, trunk, and extremities. Hyperpigmentation gives the skin a “salt and pepper” appearance
  • Microcephaly
  • Scoliosis
  • Delay in psychomotor development
  • Low muscle tone
  • Erratic involuntary movements
  • Epilepsy
  • Mental retardation

How is Saul Wilkes Stevenson Syndrome Diagnosed?

Saul Wilkes Stevenson Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Saul Wilkes Stevenson Syndrome?

The complications of Saul Wilkes Stevenson Syndrome may include:

  • Risk of falls and injury due to seizures
  • Delay in speech development; being non-verbal
  • Movement disorders, resulting in loss of mobility as the disease progresses
  • Severe mental retardation resulting in need for assistance for day-to-day living

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Saul Wilkes Stevenson Syndrome Treated?

There is no cure for Saul Wilkes Stevenson Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Saul Wilkes Stevenson Syndrome be Prevented?

Saul Wilkes Stevenson Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Saul Wilkes Stevenson Syndrome? (Outcomes/Resolutions)

  • The prognosis of Saul Wilkes Stevenson Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Saul Wilkes Stevenson Syndrome:

Saul Wilkes Stevenson Syndrome is also known by the following additional synonyms:

  • Amish Infantile Epilepsy Syndrome
  • GM3 Synthase Deficiency Disorder
  • Salt and Pepper Developmental Regression Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 29, 2018
Last updated: May 29, 2018