Zellweger syndrome : a case report

Abstract EN

Zellweger syndrome, an autosomal recessive disorder, is generally considered as the prototype of the group of the rare peroxisomal disorders.

Infants with Zellweger syndrome have a striking constellation of clinical features, which usually suggests the diagnosis.

The condition has been reported in all races and from all parts of the world.

Considerable progress has been made recently in the biochemical and molecular aspects of the disease as well as identifying the genetic defects involved.

Here we present a case of Zellweger syndrome and discuss the pathophysiology of the disease.

To our knowledge, this is the first case of Zellweger syndrome reported from United Arab Emirates.