A Case of Diffuse Cerebral Cortical Dysplasia and Partial Agenesis of Corpus Callosum in Seckel Syndrome / 대한소아신경학회지

ABSTRACT

Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including receding forehead and chin, a prominent beaked nose and large eyes. A number of CNS anomalies have been reported in literature that are mental retardation, seizures, pachygyria, arachnoid cysts, large basal ganglia, agenesis of corpus callosum, hypoplasia of cerebellar vermis and cerebral aneurysms. Our patient had seizures, microcephaly, mental retardation and CNS anomalies, including diffuse cerebral dysgenesis, pachygyria and partial agenesis of corpus callosum. We report a case of Seckel syndrome with CNS anomalies and a follow up visit at 5 years later