Definition:
Cerebrohepatorenal syndrome is a rare genetic disease characterized by the lack of peroxisomes, the cell structures that remove toxic substances from the body. Peroxisomes are found in the kidneys, liver and brain.
Diagnosis:
Cerebrohepatorenal syndrome can be diagnosed by means of genetic testing as well as by studying the presence of the symptoms in the patient.
Treatment:
There is no standard treatment for the disease. Only the symptoms can be managed, but complications such as pneumonia can lead to eventual death.
Symptoms and Signs:
The symptoms shown by a person with the disorder are enlarged liver, high amounts of iron in the blood, as well as vision problems. Some patients lack muscle tone and suffer from immobility. Jaundice and gastrointestinal bleeding are also common.
Causes:
Cerebrohepatorenal syndrome is an autosomal recessive defect. The mutations lie on the chromosome 2p15 and chromosome 7q21-q22.
