Santavuori Disease

Below you will find more information about Santavuori Disease from Medigest. If you believe that you are suffering from any of the symptoms of Santavuori Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Santavuori Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Santavuori Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Santavuori disease is a form of Neuronal Ceroid Lipofuscinoses, a genetic disorder marked by an excessive accumulation of lipopigments (lipofuscin) in the tissues. It is also alternatively known as Infantile Neuronal Ceroid Lipofuscinoses (INCL). Santavuori disease is extremely rare, with only 60 documented cases worldwide. Inherited via the recessive autosomal trait, this disease is degenerative, progressive, and often fatal.


Treatment for Santavuori disease is limited at best. Available medications are focused mostly on symptom relief, particularly to treat epilepsy and sleeping difficulties. Physiotherapy is also recommended to assist children in retaining an upright position while preventing some of the pain.

Symptoms and Signs

Children born with Santavuori disease develop normally at age 8-18 months. But shortly after, they begin to physically and mentally regress. Affected children will soon lose motor and speech skills, and develop blindness through optic athropy. Neurological symptoms in the form of epilepsy and myoclonic seizures (among others) also appear. Children with Santavuori disease typically survive up to 9 to 11 years old.

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