Articles » NINDS Infantile Refsum Disease Information Page: NINDS

NINDS Infantile Refsum Disease Information Page: NINDS

Article title: NINDS Infantile Refsum Disease Information Page: NINDS

Main condition: Infantile Refsum Disease

Conditions: Infantile Refsum Disease

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What is Infantile Refsum Disease?
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.

What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as infantile Refsum disease. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.

Selected references

Bradley, W, et al (eds).
Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1532-1534 (1996)

Raymond GV.
Peroxisomal disorders Current Opinion in Pediatrics, 11:6:572-6 (Dec 1999)

Robertson, E, et al.
Treatment of Infantile Phytanic Acid Storage Disease: Clinical, Biochemical and Ultrastructural Findings in Two Children Treated for 2 Years European Journal of Pediatrics, 147; 133-142 (1988)

 Organizations

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



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