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)...

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Autores principales: Ichinose, Yuta, Kurita, Takafumi, Satake, Akane, Natori, Takahiro, Shindo, Kazumasa, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
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.
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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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