J Korean Child Neurol Soc.  2007 May;15(1):121-125.

A Case of Cerebral Dystrophy and Cerebellar Atropy in Seckel Syndrome

• Yoon JW
• Lim JW
• Cheon EJ
• Ko KO
• Lee YH

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.

Keyword

Seckel syndrome; Mental retardation; CNS anomalies

MeSH Terms

Animals
Atrophy
Beak
Head
Humans
Intellectual Disability
Microcephaly
Nose