Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature
Article first published online: 11 DEC 2008
©2008 The Author(s)/Journal Compilation ©2008 Foundation Acta Pædiatrica/Acta Pædiatrica
Volume 98, Issue 4, pages 758–759, April 2009
How to Cite
Eventov-Friedman, S., Singer, A. and Shinwell, E. S. (2009), Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature. Acta Paediatrica, 98: 758–759. doi: 10.1111/j.1651-2227.2008.01161.x
- Issue published online: 6 MAR 2009
- Article first published online: 11 DEC 2008
- Received 19 June 2008; revised 13 August 2008; accepted 13 November 2008.
- Atrial septal defect;
Background: The rare congenital combination of microcephaly, lymphedema and chorioretinopathy (MLCD) has been described. Recently, three cases with these clinical characteristics have been diagnosed as having, in addition, various congenital cardiac anomalies, which may be part of this genetic entity that presents with variable expression.
Clinical observation: Here we present a new case of a one-year-old infant who was born with microcephaly and lymphedema and atrial septal defect (ASD) and developed chorioretinopathy at the age of 6 months. This infant had normal neurodevelopment at one year of age.
Conclusion: We recommend that cardiac evaluation and long-term ophthalmologic follow-up should be part of the evaluation in each child born with microcephaly and lymphedema. Family counseling should include the fact that normal to near-normal development may be possible, despite the presence of microcephaly.