Olyaei Yasamin, Sarmiento J Manuel, Bannykh Serguei I, Drazin Doniel, Naruse Robert T, King Wesley
Department of Surgery, University of California, Riverside School of Medicine.
Department of Neurosurgery, Cedars-Sinai Medical Center.
Cureus. 2017 Apr 11;9(4):e1151. doi: 10.7759/cureus.1151.
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.
鲁宾斯坦-泰比综合征（RSTS）是一种常染色体显性疾病，其典型特征为产前和产后生长受限、小头畸形、颅面部畸形、拇指和脚趾宽大以及智力残疾。我们报告了首例与RSTS相关的垂体大腺瘤病例。一名39岁的白种女性，两岁时被诊断为RSTS，三年前在因偏头痛样头痛进行检查时，脑部磁共振成像（MRI）发现垂体有钆增强肿块。随后的系列影像学检查显示，肿块大小增长至11.5×14.0×10.0毫米。通过内镜经鼻蝶窦入路切除了垂体鞍区病变，发现是促甲状腺激素腺瘤。RSTS是一种罕见的神经发育性遗传疾病，大多数残疾患者可存活至成年。该疾病与包括垂体腺瘤在内的神经系统肿瘤发生易感性增加有关。
