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

• Baló Concentric Sclerosis
• Diffuse Cerebral Sclerosis of Schilder
• Marburg Variant of Multiple Sclerosis

What is Tumefactive Multiple Sclerosis? (Definition/Background Information)

• Tumefactive Multiple Sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS)
• Symptoms of Tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness
• The cause of Tumefactive Multiple Sclerosis is not known. It often develops into the relapsing-remitting form of MS
• In other cases there is only one occurrence of the condition. In still others, the disease process remains less clear
• While there is no cure for Tumefactive Multiple Sclerosis, treatments such as corticosteroids are available to decrease disease activity

(Source: Tumefactive Multiple Sclerosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Tumefactive Multiple Sclerosis? (Age and Sex Distribution)

• Tumefactive Multiple Sclerosis is a rare disorder. The median age for disease onset is 37 years
• Although both genders may be affected, females are marginally more susceptible to the condition than males (female-male ratio is 6:5)
• Worldwide, individuals of all racial and ethnic groups may be affected. However, individuals of north European descent have a higher risk for Tumefactive MS

What are the Risk Factors for Tumefactive Multiple Sclerosis? (Predisposing Factors)

Some risk factors for developing Tumefactive Multiple Sclerosis include:

• A positive family history of multiple sclerosis

• Living in countries with temperate climate such as Southern Canada, Northern United States, New Zealand, and Europe
• Being of Northern European descent 
• Presence of other autoimmune diseases such as type 1 diabetes mellitus and thyroid disease
• Smoking
• Vitamin D deficiency 

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 Tumefactive Multiple Sclerosis? (Etiology)

The exact cause of Tumefactive Multiple Sclerosis is not known.

• Since individuals with a parent with multiple sclerosis bear a higher risk of being diagnosed with Tumefactive MS, it is possible that genetic factors play a role in the development of the condition
• In addition to genetic factors, environmental factors may also play a role in the development of Tumefactive Multiple Sclerosis

What are the Signs and Symptoms of Tumefactive Multiple Sclerosis?

The signs and symptoms of Tumefactive Multiple Sclerosis may include:

• Headaches
• Changes in thinking
• Confusion
• Speech problems 
• Seizures
• Weakness

(Source: Tumefactive Multiple Sclerosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Speech problems that may include:
  • Aphasia, or inability to convey or understand speech
  • Apraxia, or inability to move the muscles for speech

How is Tumefactive Multiple Sclerosis Diagnosed?

Tumefactive Multiple Sclerosis is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Neurological tests
• Imaging studies
• Biopsy studies, if necessary
• Tests to rule out the presence of any brain tumor

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 Tumefactive Multiple Sclerosis?

The complications of Tumefactive Multiple Sclerosis may include:

• Risk of fall and injury due to seizures
• Progression to relapsing-remitting multiple sclerosis (RRMS)
• Loss of muscle control for bodily functions
• Depression

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

How is Tumefactive Multiple Sclerosis Treated?

• To date there have been no controlled treatment studies for Tumefactive Multiple Sclerosis. As a result, treatment decisions are largely based on a doctor's experience and information from single case reports
• In a small number of cases, people with Tumefactive Multiple Sclerosis have minimal to no symptoms. A reasonable approach of care in these cases is to monitor without treatment
• In most cases, the size of the lesion and resulting symptoms prompt treatment with corticosteroids
  • As with other forms of multiple sclerosis, corticosteroids (for example, intravenous methylprednisolone) should be the first line of treatment
  • If corticosteroids are not effective, plasma exchange is tried. Another second line treatment that has been tried with some success is Rituximab

(Source: Tumefactive Multiple Sclerosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Tumefactive Multiple Sclerosis be Prevented?

Currently, Tumefactive Multiple Sclerosis may not be preventable; it is believed to have a genetic basis, but the exact cause is not known.

• 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 Tumefactive Multiple Sclerosis? (Outcomes/Resolutions)

• The prognosis of Tumefactive Multiple Sclerosis is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Tumefactive Multiple Sclerosis:

Tumefactive Multiple Sclerosis is also known by the following names:

• Balo Disease
• Balo's Concentric Sclerosis
• Balo's Disease
• Concentric Demyelination
• Encephalitis Periaxialis Concentrica
• Tumefactive MS

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

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