Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome

What's already known about this topic? Megalencephaly‐capillary malformation (MCAP) syndrome is a rare disorder characterized by growth dysregulation, central nervous system and vascular anomalies, and distal limb malformations. Disruption of PI3K‐AKT signaling has recently been implicated as t...

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Published in:Prenatal diagnosis 2013-10, Vol.33 (10), p.1010-1012
Main Authors: Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B., Zackai, Elaine H.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Adult
Diagnosis, Differential
Female
Humans
Hydrops Fetalis - diagnostic imaging
Infant, Newborn
Male
Medical treatment
Megalencephaly - diagnostic imaging
Pregnancy
Skin Diseases, Vascular - diagnostic imaging
Telangiectasis - congenital
Telangiectasis - diagnostic imaging
Ultrasonography, Prenatal
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Summary:What's already known about this topic? Megalencephaly‐capillary malformation (MCAP) syndrome is a rare disorder characterized by growth dysregulation, central nervous system and vascular anomalies, and distal limb malformations. Disruption of PI3K‐AKT signaling has recently been implicated as the cause of MCAP. What does this study add? This study reports a case of MCAP with bilateral pleural effusions and fetal hydrops managed with thoracoamniotic shunt placement, highlights characteristic features of MCAP that may facilitate prenatal diagnosis, and discusses the possibility of prenatal molecular diagnosis in future cases.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.4178