Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).

Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus. This pattern of malformations was first recognized in 1964 by Bowen and Smith. Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. A full term, intrauterine growth restricted, male neonate was born to a 32-year-old, gravida 3, para 1 mother via spontaneous vaginal delivery. Polyhydramnios was noted in the pregnancy. Fetal ultrasonography demonstrated bilaterally enlarged ventricles in the brain and talipes equinovarus at 29 weeks of gestation. Apgar scores were 6 and 8 at 1 and 5min respectively. This patient presented with seizures at the time of birth and had classical findings suggestive of Zellweger syndrome including generalized hypotonia, large anterior fontanelle (6 x 6 cm), flat occiput, high forehead with shallow supraorbital ridges, mild micrognathia, weak suck, weak cry, single transverse palmar crease (simian crease), contractures at elbows and knees, short humeri, hepatomegaly, patent ductus arteriosus and ventricular septal defect and cryptorchidism. Figures 1 and 2: MRI of brain showing an abnormal band, isointense with gray matter in the subcortical region of the superior aspect of both cerebral hemispheres (Arrows). Note the dysgenesis of the corpus callosum