Purpose: Microcephaly and chorioretinal dysplasia is a very rare syndrome, characterized by microcephaly, chorioretinal dysplasia, mental retardation, and is phenotypically classified according to the presence of lymphedema. Among previously described patients, there has been no association with brain anomaly other than simple microcephaly, except for one case that presented with micro-lissencephaly, who had lymphedema.
Methods: Herein, we describe a case of microcephaly and chorioretinal dysplasia without lymphedema who was shown to have lissencephaly and cerebellar vermis hypoplasia. His head circumference at birth was 28 cm (below -3SD) and both fundi showed pigmentary retinopathy with multiple punched-out lesions and retinal vascular attenuation.
Results: Magnetic resonance imaging of the brain showed lissencephaly accompanied by inferior cerebellar vermis hypoplasia.
Conclusions: These results show that microcephaly and chorioretinal dysplasia can be accompanied by lissencephaly, thus brain imaging should be considered in evaluating these patients.