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A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood
A 44-year-old female developed mild gait disturbance. She had a history of a ventricular septum defect, deafness, epilepsy, schizophrenia and cataracts. Magnetic resonance imaging showed ventriculomegaly of the brain and lower thoracic spinal stenosis due to ossification of the yellow ligament (OYL)...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721622/ https://www.ncbi.nlm.nih.gov/pubmed/33313431 http://dx.doi.org/10.1016/j.heliyon.2020.e05600 |
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author | Ichinose, Yuta Kurita, Takafumi Satake, Akane Natori, Takahiro Shindo, Kazumasa Takiyama, Yoshihisa |
author_facet | Ichinose, Yuta Kurita, Takafumi Satake, Akane Natori, Takahiro Shindo, Kazumasa Takiyama, Yoshihisa |
author_sort | Ichinose, Yuta |
collection | PubMed |
description | A 44-year-old female developed mild gait disturbance. She had a history of a ventricular septum defect, deafness, epilepsy, schizophrenia and cataracts. Magnetic resonance imaging showed ventriculomegaly of the brain and lower thoracic spinal stenosis due to ossification of the yellow ligament (OYL). She was diagnosed as having 22q11.2 deletion syndrome (22q11.2DS) by chromosome analysis, and OYL was suspected to be a secondary symptom due to hypoparathyroidism. This is the first report of 22q11.2DS with OYL and ventriculomegaly. Since the present patient was not diagnosed until adulthood, we emphasize that we should keep this common but heterogeneous congenital disease in mind. |
format | Online Article Text |
id | pubmed-7721622 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-77216222020-12-11 A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood Ichinose, Yuta Kurita, Takafumi Satake, Akane Natori, Takahiro Shindo, Kazumasa Takiyama, Yoshihisa Heliyon Case Report A 44-year-old female developed mild gait disturbance. She had a history of a ventricular septum defect, deafness, epilepsy, schizophrenia and cataracts. Magnetic resonance imaging showed ventriculomegaly of the brain and lower thoracic spinal stenosis due to ossification of the yellow ligament (OYL). She was diagnosed as having 22q11.2 deletion syndrome (22q11.2DS) by chromosome analysis, and OYL was suspected to be a secondary symptom due to hypoparathyroidism. This is the first report of 22q11.2DS with OYL and ventriculomegaly. Since the present patient was not diagnosed until adulthood, we emphasize that we should keep this common but heterogeneous congenital disease in mind. Elsevier 2020-12-05 /pmc/articles/PMC7721622/ /pubmed/33313431 http://dx.doi.org/10.1016/j.heliyon.2020.e05600 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Ichinose, Yuta Kurita, Takafumi Satake, Akane Natori, Takahiro Shindo, Kazumasa Takiyama, Yoshihisa A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
title | A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
title_full | A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
title_fullStr | A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
title_full_unstemmed | A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
title_short | A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
title_sort | patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721622/ https://www.ncbi.nlm.nih.gov/pubmed/33313431 http://dx.doi.org/10.1016/j.heliyon.2020.e05600 |
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