Zellweger syndrome is diagnosed by measuring metabolic compounds in blood samples from patients. Various fatty acids, plasmalogens, pipecolic acid, and bile acid intermediates are usually studied
Diagnosis is primarily through history. When a patient who has recovered from polio some decades previously begins to experience muscle weakness, PPS must be strongly suspected.
Persons with Zellweger syndrome rarely live more than one year after diagnosis, with death due mostly to severe feeding difficulties, liver complications, respiratory distress, and cardiac defects.
I think the youngest you can be is about 3, but the majority get diagnosed in their teens, because that's the age when they go to high school. There are those that don't get diagnosed until their...
Bloom syndrome is characterized by short stature and a facial rash that develops shortly after first exposure to sun. This rash can make a butterfly-shaped patch of reddened skin on the cheeks. The...