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  • Title: Variable presentations of Currarino syndrome in three members of the same family.
    Author: Bunc G, Ravnik J, Vorsic M, Ravnik M.
    Journal: Acta Neurochir (Wien); 2009 Sep; 151(9):1169-73. PubMed ID: 19517060.
    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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