Summary
Zellweger-like syndrome with normal peroxisomal function is a rare anomaly characterised by facial dysmorphism, profound hypotonia, intellectual deficit, and metabolic anomalies. It has been described in two sibs born to a consanguineous couple. The facial dysmorphism and clinical course resemble those found in Zellweger syndrome, but no peroxysomal defect is found in these patients. Muscular respiratory chain and dicarboxylic acid deficiencies were reported. Mitochondriopathy of autosomal recessive inheritance is hypothesised. Prognosis is very poor. *Author: Orphanet (February 2005)*.
