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Open Access 01-12-2018 | Case report

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

Authors: Lucia Cococcioni, Susanna Paccagnini, Elena Pozzi, Luigina Spaccini, Elisa Cattaneo, Serena Redaelli, Francesca Crosti, Gian Vincenzo Zuccotti

Published in: Italian Journal of Pediatrics | Issue 1/2018

Abstract

Background

Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis.

Case presentation

We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. Finally, a CGH-array analysis was performed and a form of Currarino Syndrome caused by a rare 7q36 microdeletion, was diagnosed.

Conclusion

Occult spinal dysraphism should be suspected in case of poor polyethylene glycol responder constipation, even when evident sacral abnormalities on the physical examination are not detected.

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Title: Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report
Authors: Lucia Cococcioni
Susanna Paccagnini
Elena Pozzi
Luigina Spaccini
Elisa Cattaneo
Serena Redaelli
Francesca Crosti
Gian Vincenzo Zuccotti
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2018
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-018-0500-2

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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