Poretti Andrea, Capone Andrea, Hackenberg Anette, Kraegeloh-Mann Ingeborg, Kurlemann Gerhard, Laube Guido, Pietz Joachim, Schimmel Mareike, Schwindt Wolfram, Scheer Ianina, Boltshauser Eugen
Division of Pediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, CH-8032, Zürich, Switzerland.
Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Cerebellum. 2016 Dec;15(6):705-709. doi: 10.1007/s12311-015-0736-y.
We report on seven patients with a novel neuroimaging finding that involves exclusively the cerebellar gray matter at the bottom of several fissures of both hemispheres but spares the vermis. The abnormal fissures were predominantly located in the lower and lateral parts of the cerebellar hemispheres. The affected cerebellar cortex was hypointense on T1-weighted and hyperintense on T2-weighted and fluid attenuation inversion recovery sequences. In some patients, the involved cerebellar gray matter was mildly thickened and the affected fissures slightly widened. In three of seven patients, the neuroimaging findings were unchanged on follow-up studies up to 6 years. The seven patients had various indications for the brain magnetic resonance imaging studies, and none of them had cerebellar dysfunction. Based on the similarity of the neuroimaging pattern with the cerebral "bottom-of-sulcus dysplasia," we coined the term "cerebellar bottom-of-fissure dysplasia" to refer to this novel neuroimaging finding. The neuroimaging characteristic as well as the unchanged findings on follow-up favors a stable "developmental" (malformative) nature. The lack of cerebellar dysfunction in the affected patients suggests that cerebellar bottom-of-fissure dysplasia represents most likely an incidental finding that does not require specific diagnostic investigation but allows a reassuring attitude.
我们报告了7例患者，他们有一项新的神经影像学发现，即仅累及双侧半球多个脑沟底部的小脑灰质，而蚓部未受累。异常脑沟主要位于小脑半球的下部和外侧。受累的小脑皮质在T1加权像上呈低信号，在T2加权像和液体衰减反转恢复序列上呈高信号。在一些患者中，受累的小脑灰质轻度增厚，受累脑沟略有增宽。在7例患者中的3例中，长达6年的随访研究显示神经影像学表现无变化。这7例患者因各种原因进行了脑磁共振成像检查，且均无小脑功能障碍。基于这种神经影像学表现与大脑“脑沟底部发育异常”的相似性，我们创造了“小脑脑沟底部发育异常”这一术语来指代这一新的神经影像学发现。神经影像学特征以及随访中无变化的表现提示其具有稳定的“发育性”（畸形性）本质。受累患者无小脑功能障碍表明，小脑脑沟底部发育异常很可能是一种偶然发现，不需要进行特定的诊断性检查，但可以让人放心。
