ask our doctors

Refsum Disease

Get the facts on Refsum Disease treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Refsum Disease prevention, screening, research, statistics and other Refsum Disease related topics. We answer all your qestions about Refsum Disease.

Question: Infantile Refsum Disease - what causes it? My cousins baby was diagnosed with this. Could it be confused with shaking a baby? My cousin has 2 kids - and can't take care of herself much less kids. She gave the 1st one up and took him back after the rough time with a premie was over. She has lost him several times ( he was found 3 blocks away by police, neighbors have found him wandering &called police, landlord has found him etc..), and left him sitting in a car on a hot day because she forgot him. With the second one she had no one to take the baby so she kept it and finally married that one's daddy. When the baby was 6 mo she got pregnant again. The daddy left apt, & a couple minutes later she left apt to go visit friends 2 doors down, later the 2 yr old left the apt and the baby was all alone. I don't know when anyone went back. I'm worried she might have left the baby with my aunt who is a known child abuser, or that the mommy might have hurt the baby herself. So I am trying to find out if they made the right diagnoses.

Answer: Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -- which acts as an insulator -- on nerve fibers in the brain. Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). Onset of the disorder begins in early infancy. Is there any treatment? There is no cure or standard course of treatment for infantile Refsum disease. Treatment is symptomatic and supportive. What is the prognosis? The prognosis for individuals with infantile Refsum disease is poor. Death generally occurs in the second decade of life.

Refsum Disease News