children s health issues
Peroxisomal Disorders
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD)
These three disorders are among a group of conditions called Zellweger spectrum disorders that have overlapping symptoms and affect many parts of the body. Zellweger syndrome is the most severe form, and infantile Refsum disease is the least severe form. Zellweger syndrome and neonatal adrenoleukodystrophy occur in infancy. Refsum disease occurs later, even in adulthood in some people. Symptoms of these disorders may include distinctive facial features, brain and spinal cord defects, destruction of the tissues that wrap around nerves (demyelination), Seizures in Children (in newborns), and weak muscle tone (hypotonia). Children may have an enlarged liver and cysts on their kidneys. Children may also have short limbs, a specific bone abnormality called chondrodysplasia punctata (which affects the growth of the long bones), cataracts, abnormal growth of blood vessels in the eye (retinopathy), hearing loss, and weakness, numbness, and pain in the hands and feet. Physical activity such as movement and speech is slowed. Doctors suspect these disorders when elevated levels of certain fatty acids are detected in the blood. Genetic testing is done to confirm the diagnosis. 