Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature
Abstract Background Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incont...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-07-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-023-01412-z |
| _version_ | 1797774013358931968 |
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| author | Roberta Onesimo Cristiana Agazzi Luca Massimi Valentina Giorgio Chiara Leoni Giuseppe Zampino Claudia Rendeli |
| author_facet | Roberta Onesimo Cristiana Agazzi Luca Massimi Valentina Giorgio Chiara Leoni Giuseppe Zampino Claudia Rendeli |
| author_sort | Roberta Onesimo |
| collection | DOAJ |
| description | Abstract Background Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incontinence and delayed sphincter control. At present, to our knowledge, no clear association between Down syndrome, Bladder Bowel Dysfunction and neural tube defects has been previously described. Case presentation We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes. Conclusion At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications. |
| first_indexed | 2024-03-12T22:14:47Z |
| format | Article |
| id | doaj.art-4413a360e2ec485bbf47f63e545190a3 |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-03-12T22:14:47Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-4413a360e2ec485bbf47f63e545190a32023-07-23T11:21:13ZengBMCItalian Journal of Pediatrics1824-72882023-07-014911510.1186/s13052-023-01412-zBladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literatureRoberta Onesimo0Cristiana Agazzi1Luca Massimi2Valentina Giorgio3Chiara Leoni4Giuseppe Zampino5Claudia Rendeli6Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli -IRCCSRare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli -IRCCSNeurosurgery Unit - Fondazione Policlinico Universitario Agostino Gemelli -IRCCSNeurosurgery Unit - Fondazione Policlinico Universitario Agostino Gemelli -IRCCSRare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli -IRCCSRare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli -IRCCSSpina Bifida Center - Fondazione Policlinico Universitario Agostino Gemelli -IRCCSAbstract Background Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incontinence and delayed sphincter control. At present, to our knowledge, no clear association between Down syndrome, Bladder Bowel Dysfunction and neural tube defects has been previously described. Case presentation We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes. Conclusion At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications.https://doi.org/10.1186/s13052-023-01412-zDown syndromeNeural tube defectBowel bladder dysfunctionPelvic floor rehabilitationCase report |
| spellingShingle | Roberta Onesimo Cristiana Agazzi Luca Massimi Valentina Giorgio Chiara Leoni Giuseppe Zampino Claudia Rendeli Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature Italian Journal of Pediatrics Down syndrome Neural tube defect Bowel bladder dysfunction Pelvic floor rehabilitation Case report |
| title | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature |
| title_full | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature |
| title_fullStr | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature |
| title_full_unstemmed | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature |
| title_short | Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature |
| title_sort | bladder and bowel dysfunction in down syndrome with neural tube defect case report and review of the literature |
| topic | Down syndrome Neural tube defect Bowel bladder dysfunction Pelvic floor rehabilitation Case report |
| url | https://doi.org/10.1186/s13052-023-01412-z |
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