Definition:
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:
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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