ZELLWEGER SYNDROME
WHAT IS ZELLWEGER SYNDROME?
Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain.
WHAT IS THE PROGNOSIS
The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.
CLINICAL FEATURES
NEUROLOGIC : Severe mental retardation, Hypotonia, Seizures
OTHER ABNORMALITIES Bell-shaped thorax, Nystagmus, High forehead and Macrocephaly
TREATMENT
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.
ANGEL OLIVIA FREETH
7-29-04 12-20-04
CLASSIC ZELLWEGER
INFANTILE REFSUM DISEASE
WHAT IS INFANTILE REFSUM DISEASE?
Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes 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 of Infantile Refsum Disease
visual impairments hearing impairments, hypotonia, failure to thrive, developmental delay, ataxia blood), and mild facial dysmorphism
What is the prognosis?
The prognosis for individuals with infantile Refsum disease is poor. Death generally occurs in the second decade of life.
Is there any treatment?
There is no cure or standard course of treatment for infantile Refsum disease. Treatment is symptomatic and supportive.
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