Byung Joo Lee1, Jeong Hun Kim, Young Suk Yu. 1. Department of Ophthalmology, Seoul National University College of Medicine, and Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
Abstract
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.
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.
Authors: Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour Journal: Eur J Hum Genet Date: 2013-11-27 Impact factor: 4.246