A Case of Dandy-Walker Syndrome with Chromosomal Abnormality.
- Author:
Hyui Sung CHANG
;
Seok Kyu LEE
;
Gi Chung LEE
;
Woo Ki LEE
;
Kwang Woo KIM
- Publication Type:Case Report
- MeSH:
Brain;
Chromosome Aberrations*;
Clubfoot;
Congenital Abnormalities;
Dandy-Walker Syndrome*;
Dislocations;
Fingers;
Foot;
Hip;
Humans;
Infant;
Infant, Low Birth Weight;
Infant, Newborn;
Male;
Physical Examination;
Pulmonary Valve Stenosis;
Vomiting
- From:Journal of the Korean Pediatric Society
1994;37(12):1784-1788
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The Dandy-Walker syndrome is a developmental disorders of the brain characterized by cystic deformity of the 4th ventricle and agensis of the cerebellar vermis. Other systemic anomalies and chromosomal abnormalities are associated with this syndrome. We are experienced a case in a 9 months old male infant who presented initially with frequent vomiting, low birth weight, On the physical examination, a prominent occiput, palpable mass below the right upper quadrant, pulmonary valve stenosis, congenital dislocation of the hips, ventral flexion of fingers, clubfoots and the rocker-bottom deformities of feet were present. On the chromosomal study, there were chromosomal polymorphisms in a thickened C-band of chromosome No. 1 by C-banding method. The brain CT revealed a large, thin-walled, low density mass of CSF without enhancement in the posterior fossa, showing upward displacement of cerebellar hemisphere with absent inferior vermis(or associated with dysplastic cerebellar hemisphere). A brief review of the related literatures were included in this report.
