A Case of Cerebral Dystrophy and Cerebellar Atropy in Seckel Syndrome.
- Author:
Jang Won YOON
1
;
Jae Woo LIM
;
Eun Jung CHEON
;
Kyoung Og KO
;
Young Hyuk LEE
Author Information
1. Department of Pediatrics, College of Medicine, Konyang University, Daejeon, Korea. limsoa@hanmail.net
- Publication Type:Case Report
- Keywords:
Seckel syndrome;
Mental retardation;
CNS anomalies
- MeSH:
Animals;
Atrophy;
Beak;
Head;
Humans;
Intellectual Disability;
Microcephaly;
Nose
- From:
Journal of the Korean Child Neurology Society
2007;15(1):121-125
- CountryRepublic of Korea
- Language:Korean
-
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.
