O'Mahony Elizabeth, Ellenbogen Jonathan, Avula Shivaram
Department of Radiology, Alder Hey Children's Hospital NHS Foundation Trust, East Prescot Road, Liverpool, L14 5AB, UK. E.o'
Department of Neurosurgery, Alder Hey Children's Hospital NHS Foundation Trust, East Prescot Road, Liverpool, L14 5AB, UK.
Neuroradiology. 2022 May;64(5):1033-1035. doi: 10.1007/s00234-022-02905-0. Epub 2022 Feb 24.
The thyroid transcription factor 1 (TITF-1) gene plays an important role in the development of the ventral forebrain, thyroid and lungs. Mutations of this gene are known to cause benign hereditary chorea (BHC) and can cause the full spectrum of abnormalities seen in the brain-thyroid-lung syndrome. Abnormalities of the ventral forebrain on imaging have been variably documented in the literature. Multiple previous reports describe a cystic pituitary mass, as well as duplication of the pituitary stalk and communication between an intrasellar cyst and the third ventricle. The initial MRI performed in our case was interpreted as an intrasellar cyst, but the high-resolution MRI performed later was able to resolve this as a persisting embryonal infundibular recess (PEIR), rather than the cystic pituitary mass which has previously been described. This case illustrates the role of the TITF-1 gene in the development of the pituitary and hypothalamus.
甲状腺转录因子1（TITF-1）基因在前脑腹侧、甲状腺和肺的发育中起重要作用。已知该基因的突变会导致良性遗传性舞蹈病（BHC），并可引起脑-甲状腺-肺综合征中所见的各种异常。影像学上前脑腹侧的异常在文献中有不同的记载。此前的多篇报道描述了垂体囊性肿块，以及垂体柄重复和鞍内囊肿与第三脑室之间的连通。我们病例中最初的MRI被解释为鞍内囊肿，但后来进行的高分辨率MRI能够将其明确为持续存在的胚胎漏斗隐窝（PEIR），而非先前描述的垂体囊性肿块。该病例说明了TITF-1基因在垂体和下丘脑发育中的作用。
