An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.

[zellweger syndrome]

Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures , inability to feed , liver cysts with hepatic dysfunction , chondrodysplasia punctata . Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance , skeletal abnormalities , dermatoglyphic abnormalities , mental retardation and short stature . Abnormal liver functions and some atypical findings were also reported in some patients with Kabuki syndrome . In this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen in Kabuki Syndrome will be presented . The inclusion of Zellweger syndrome into the differential diagnosis of the patients with Kabuki-like phenotype in addition to abnormal liver functions is emphasized .