Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when he presented with obstructive jaundiced and renal cysts. He died at the age of seven months. Biochemical studies revealed elevation of very long chain fatty acids and phytanic acid consistent with a peroxisomal disorder. The recognition of this syndrome is important since it is a fatal hereditary disease. Zellweger syndrome should be included in the differential diagnosis of infantile hypotonia and dysmorphism.
Key words: Child; Peroxisomal disorders; Zellweger syndrome
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