Zellweger Syndrome: Treatment, Procedure, Cost and Side Effects

Cerebrohepatorenal syndrome

Zellweger Syndrome is a very rare congenital disease that occurs due to an autosomal recessive trait which causes a reduction or absence of normal working peroxisomes in the cells. Zellweger syndrome is the most severe out of a group of similar biogenetic disorders called Zellweger Spectrum.

Zellweger syndrome causes an absence of normal peroxisomes in the cells. Most prominent consequence of it is improper placement and migration of neurons in the central nervous system, leading to impaired brain development in the foetus. Zellweger syndrome is also associated with hypomyelination, or reduced formation of myelin. Myelin is essential in normal CNS functioning and loss of it causes impairment in functioning and progressive degeneration of neurons. In addition, other organ systems are also affected by Zellweger syndrome. The symptoms appear within the first few hours after birth. Infants have bad muscle development and tone, liver cyst and dysfunction, seizures, feeding problems, loss of hearing and vision, flattened facial features, folds of skin on the neck, protruding tongue, cataracts, glaucoma, gaps in skull bones, and spots in bones.

Zellweger syndrome has no known cure and very little chance of prognosis. Affected infants do not usually survive beyond their first year. Treatment options available are targeted at the symptoms and their management.

Zellweger syndrome has no cure and almost no chance of recovery. Only its symptoms can be treated as they appear. Medical care is usually provided by a panel of specialists, apart from which supportive therapeutic approach is taken. Feeding difficulties in infants require placement of feeding tube. Simple formulae may be prescribed for feeding containing fat soluble vitamins A, D, E, and K as supplements, and anything more as required.

Symptoms of Zellweger syndrome appear soon after birth, within a few hours to days. These symptoms include poor musculature, liver dysfunction with or without cysts, feeding abnormalities, flattened abnormal facial features, tongue protruding from mouth, epithelial folding on the neck, and gaps in skull bones. Apart from these, affected infants may also develop cataracts, glaucoma, seizures, and small spots in the bones called chondrodysplasia punctata. Brain and CNS development and function are severely affected. Infants also develop other fatal conditions in vital organs. Appearance of one or more of these symptoms within a few hours to days after birth serves as an indication of Zellweger syndrome. Confirmatory tests including clinical genetic analysis are performed to confirm the condition.

Certain problems appear in infants soon after birth and disappear very quickly as well. Feeding difficulties, for example, may appear but usually goes away soon under normal circumstances. Treatment need not be started unless Zellweger syndrome is confirmed by clinical diagnostic tests.

Treatments for Zellweger syndrome are symptomatic and supportive with very few side effects.

Zellweger syndrome has a very poor prognosis and infants usually do not survive longer than one year of age, so there are no post treatment guidelines as such.

Treatments are symptomatic and the condition is incurable.

Cost of treatments for Zellweger syndrome ranges between Rs.10,000 and Rs.50,000. Supportive therapy is also recommended.

Zellwegers syndrome is incurable and treatments are simply symptomatic. So the results are not permanent.