Infantile bilateral striatal necrosis
Familial bilateral striatal necrosis, Infantile striatonigral degeneration
Type of disease: Rare conditions
Infantile bilateral striatal necrosis (IBSN) is a rare genetic condition. It can appear as either a familial condition that is passed down through families or as a sporadic condition that occurs without any family history. Symptoms of IBSN include involuntary muscle movements, muscle spasms, being rigid, random movements, difficulty swallowing, vision problems, intellectual disability, very low body weight, failure to develop after a certain point, arm and leg weakness, trouble balancing, and involuntary eye movements.
The development of IBSN may change based on whether it is familial or sporadic. For familial IBSN, symptoms usually appear between the ages of 7 and 15 months. This type usually develops slowly and gets worse more gradually. Individuals with the sporadic form of IBSN will usually develop symptoms anytime from infancy to their teenage years, and the condition will progress more quickly. Usually, these individuals will develop a fever and will then soon begin to show nerve or brain problems.
Doctors can diagnose IBSN by looking at clinical symptoms in an individual. Key things that doctors will look for may be involuntary movements of the face, arms, legs, trunk, and other body parts, as well as problems with the brain that can be found using brain scans. For the familial type, there is not a standard treatment. For the sporadic type, treatment often depends on the type of infection that caused the fever.
Individuals with familial IBSN tend to have a more severe form of the disease, and may die due to infection. The sporadic form may be less severe and individuals with this type may gradually recover from the symptoms after recovering from the infection. If you or a family member has been diagnosed with infantile bilateral striatal necrosis, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.