How to cite this article: Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. 2009. Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. Am J Med Genet Part A 149A:1789–1794.
Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder†
Version of Record online: 16 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1789–1794, August 2009
How to Cite
Zaki, M. S., Afifi, H. H., Barkovich, AJ. and Gleeson, J. G. (2009), Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. Am. J. Med. Genet., 149A: 1789–1794. doi: 10.1002/ajmg.a.32983
- Issue online: 23 JUL 2009
- Version of Record online: 16 JUL 2009
- Manuscript Accepted: 15 MAY 2009
- Manuscript Received: 9 JAN 2009
- unilateral ventriculomegaly;
- autosomal recessive;
- developmental brain defects
We identified two female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while Patient 2 was followed without surgical intervention. Both patients presented with mild developmental delay and hemiparesis contralateral to the involved hemisphere. Focal seizures were observed in Patient 1, whose neuroimaging revealed posterior insular polymicrogyria in the normal sized ventricle hemisphere and retrocerebellar cyst. Both siblings displayed near absence of white matter with marked thinning of the overlying cortex in the affected hemisphere and very thin corpus callosum. Investigations revealed no other system involvement and karyotyping was normal. Normal TORCH screening in subsequent pregnancies, normal parental coagulation profile and undetectable maternal autoantibodies suggested against the possible role of extrinsic factors as an etiological factor for unilateral ventriculomegaly. Parents had normal brain imaging findings. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance. © 2009 Wiley-Liss, Inc.