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Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report

Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary ma...

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Autores principales: Olyaei, Yasamin, Sarmiento, J. Manuel, Bannykh, Serguei I, Drazin, Doniel, Naruse, Robert T, King, Wesley
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426823/
https://www.ncbi.nlm.nih.gov/pubmed/28503387
http://dx.doi.org/10.7759/cureus.1151
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author Olyaei, Yasamin
Sarmiento, J. Manuel
Bannykh, Serguei I
Drazin, Doniel
Naruse, Robert T
King, Wesley
author_facet Olyaei, Yasamin
Sarmiento, J. Manuel
Bannykh, Serguei I
Drazin, Doniel
Naruse, Robert T
King, Wesley
author_sort Olyaei, Yasamin
collection PubMed
description Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches. Subsequent serial imaging showed radiographic evidence of growth up to 11.5 x 14.0 x 10.0 mm in size. The pituitary sellar lesion was resected through an endoscopic transnasal transsphenoidal approach and was found to be a thyrotroph adenoma. RSTS is a rare, neurodevelopmental genetic disease where most patients with disabilities survive into adulthood. The disorder is associated with an increased predisposition for development of nervous system tumors, including pituitary adenomas.
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spelling pubmed-54268232017-05-12 Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report Olyaei, Yasamin Sarmiento, J. Manuel Bannykh, Serguei I Drazin, Doniel Naruse, Robert T King, Wesley Cureus Neurosurgery Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches. Subsequent serial imaging showed radiographic evidence of growth up to 11.5 x 14.0 x 10.0 mm in size. The pituitary sellar lesion was resected through an endoscopic transnasal transsphenoidal approach and was found to be a thyrotroph adenoma. RSTS is a rare, neurodevelopmental genetic disease where most patients with disabilities survive into adulthood. The disorder is associated with an increased predisposition for development of nervous system tumors, including pituitary adenomas. Cureus 2017-04-11 /pmc/articles/PMC5426823/ /pubmed/28503387 http://dx.doi.org/10.7759/cureus.1151 Text en Copyright © 2017, Olyaei et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Neurosurgery
Olyaei, Yasamin
Sarmiento, J. Manuel
Bannykh, Serguei I
Drazin, Doniel
Naruse, Robert T
King, Wesley
Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
title Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
title_full Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
title_fullStr Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
title_full_unstemmed Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
title_short Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
title_sort rubinstein-taybi syndrome associated with pituitary macroadenoma: a case report
topic Neurosurgery
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426823/
https://www.ncbi.nlm.nih.gov/pubmed/28503387
http://dx.doi.org/10.7759/cureus.1151
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