A Case of Cerebral Dystrophy and Cerebellar Atropy in Seckel Syndrome.

Yoon,  Jang Won; Lim,  Jae Woo; Cheon,  Eun Jung; Ko,  Kyoung Og; Lee,  Young Hyuk

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Case Report

Journal of the Korean Child Neurology Society 2007;15(1):121-125.
Published online May 30, 2007.

A Case of Cerebral Dystrophy and Cerebellar Atropy in Seckel Syndrome.

Jang Won Yoon, Jae Woo Lim, Eun Jung Cheon, Kyoung Og Ko, Young Hyuk Lee

Department of Pediatrics, College of Medicine, Konyang University, Daejeon, Korea. limsoa@hanmail.net

Abstract

Seckel syndrome is a rare autosomal recessive disease. The characteristic features of Seckel syndrome include Intrauterine and postnatal growth deficiency, severe microcephaly, and a bird-like head. General appearance of our patient was characterized by Pre- and postnatal growth retardation, microcephaly, large eye, and a beaked nose. The patient had mental retardation with CNS anomalies. The CNS anomalies seen in the patient included cerebral dysgenesis and cerebellar atrophy. So, we report the case of CNS anomalies in Seckel syndrome.

Key Words: Seckel syndrome, Mental retardation, CNS anomalies

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