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Cureus. 2017 Apr 11;9(4):e1151. doi: 10.7759/cureus.1151.

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

Cureus

Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King

Affiliations

  1. Department of Surgery, University of California, Riverside School of Medicine.
  2. Department of Neurosurgery, Cedars-Sinai Medical Center.
  3. Department of Pathology & Laboratory Medicine, Cedars-Sinai Medical Center.
  4. Department of Anesthesiology, Cedars-Sinai Medical Center.

PMID: 28503387 PMCID: PMC5426823 DOI: 10.7759/cureus.1151

Abstract

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.

Keywords: pituitary adenoma; rubinstein-taybi syndrome

Conflict of interest statement

The authors have declared that no competing interests exist.

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