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Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report
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 ca...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970537/ https://www.ncbi.nlm.nih.gov/pubmed/29801510 http://dx.doi.org/10.1186/s13052-018-0500-2 |
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author | Cococcioni, Lucia Paccagnini, Susanna Pozzi, Elena Spaccini, Luigina Cattaneo, Elisa Redaelli, Serena Crosti, Francesca Zuccotti, Gian Vincenzo |
author_facet | Cococcioni, Lucia Paccagnini, Susanna Pozzi, Elena Spaccini, Luigina Cattaneo, Elisa Redaelli, Serena Crosti, Francesca Zuccotti, Gian Vincenzo |
author_sort | Cococcioni, Lucia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5970537 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-59705372018-05-30 Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report Cococcioni, Lucia Paccagnini, Susanna Pozzi, Elena Spaccini, Luigina Cattaneo, Elisa Redaelli, Serena Crosti, Francesca Zuccotti, Gian Vincenzo Ital J Pediatr Case Report 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. BioMed Central 2018-05-25 /pmc/articles/PMC5970537/ /pubmed/29801510 http://dx.doi.org/10.1186/s13052-018-0500-2 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Cococcioni, Lucia Paccagnini, Susanna Pozzi, Elena Spaccini, Luigina Cattaneo, Elisa Redaelli, Serena Crosti, Francesca Zuccotti, Gian Vincenzo Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
title | Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
title_full | Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
title_fullStr | Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
title_full_unstemmed | Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
title_short | Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
title_sort | currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970537/ https://www.ncbi.nlm.nih.gov/pubmed/29801510 http://dx.doi.org/10.1186/s13052-018-0500-2 |
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