Zellweger Syndrome

Zellweger syndrome is a peroxisomal biogenesis disorder caused by mutations in PEX genes. Clinical features include hypotonia, craniofacial dysmorphism, seizures, liver dysfunction, and developmental delay. Pathophysiology involves defective peroxisome assembly, leading to accumulation of very-long-chain fatty acids and neuronal migration defects. Diagnosis relies on biochemical testing, MRI, and genetic confirmation. Management is supportive; prognosis is poor, with most infants not surviving beyond the first year.