Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey.
Diagn Interv Radiol. 2010 Mar;16(1):3-6. doi: 10.4261/1305-3825.DIR.2673-09.1. Epub 2010 Jan 27.
We performed a retrospective study in which we investigated malformations other than brainstem and vermian dysgenesis in Joubert syndrome-related disorders (JSRD). We investigated the frequency and type of structural abnormalities that coexist with the molar tooth sign (MTS) in JSRD.
We searched our archive for the years 2002-2008 in order to find patients with the diagnosis of JSRD. Cranial magnetic resonance imaging studies of 20 patients with the diagnosis of JSRD were reviewed by two neuroradiologists.
In addition to known anomalies including callosal dysgenesis, heterotopia, polymicrogyria, atretic encephalocele, hypomyelination, and nonobstructive dilatation of lateral ventricles; malformations that have not been previously reported were determined, including cerebellar folial disorganization, hippocampal malformation, temporal lob hypoplasia, ambient cistern lipoma, and parenchymal cyst.
Structural abnormalities associated with the MTS are not rare, and the additional imaging findings may help explain the neurological presentation in these patients.
我们进行了一项回顾性研究，调查了杰特综合征相关疾病（JSRD）中除脑干和蚓部发育不良以外的畸形。我们研究了与磨牙征（MTS）共存的结构性异常的频率和类型。
我们在 2002 年至 2008 年间检索了我们的档案，以找到 JSRD 诊断的患者。两名神经放射科医生对 20 例 JSRD 诊断患者的头颅磁共振成像研究进行了回顾。
除了已知的异常，包括胼胝体发育不全、异位、多小脑回、萎缩性脑膨出、少突胶质细胞发育不良和外侧脑室非阻塞性扩张；还确定了以前未报道过的畸形，包括小脑叶片紊乱、海马畸形、颞叶发育不良、环池脂肪瘤和实质囊肿。
与 MTS 相关的结构性异常并不罕见，额外的影像学发现可能有助于解释这些患者的神经表现。
