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Acta Neurochirurgica
Published in: Acta Neurochirurgica 9/2009

01-09-2009 | Case Report

Variable presentations of Currarino syndrome in three members of the same family

Authors: Gorazd Bunc, Janez Ravnik, Matjaž Voršič, Maja Ravnik

Published in: Acta Neurochirurgica | Issue 9/2009

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Abstract

The article presents an autosomal dominant Currarino syndrome with incomplete penetrance in three out of four members of the same family. The mother had only a bony sacral defect and no other signs. In the older daughter, the syndrome was completely developed with presacral cystic teratoma, a sacral defect and abdominal discomfort. The younger daughter had no clinical or imaging features of the disease. The only son harboured presacral meningocele, urinary stenosis and a sacral defect. The daughter and son with developed variants of the syndrome were successfully operated on and are now symptom free.
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Metadata
Title
Variable presentations of Currarino syndrome in three members of the same family
Authors
Gorazd Bunc
Janez Ravnik
Matjaž Voršič
Maja Ravnik
Publication date
01-09-2009
Publisher
Springer Vienna
Published in
Acta Neurochirurgica / Issue 9/2009
Print ISSN: 0001-6268
Electronic ISSN: 0942-0940
DOI
https://doi.org/10.1007/s00701-009-0220-x

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