@article{QIMS10923,
author = {Felice D’Arco and Lorenzo Ugga and Ferdinando Caranci and Maria Pia Riccio and Chiara Figliuolo and Kshitij Mankad and Alessandra D’Amico},
title = {Isolated macrocerebellum: description of six cases and literature review},
journal = {Quantitative Imaging in Medicine and Surgery},
volume = {6},
number = {5},
year = {2016},
keywords = {},
abstract = {Macrocerebellum is a rare entity described as an isolated and abnormal increase of the cerebellum (CB) size. There have been only eleven patients with macrocerebellum reported in the literature so far. In this study we describe the clinical and neuroradiological features of six patients with macrocerebellum. The diagnosis of isolated cerebellar enlargement was made on qualitative evaluation of the magnetic resonance imaging (MRI) scans and confirmed by a volumetric analysis which we performed in all patients on T1-weighted 3D imaging. We also describe the differential features between isolated macrocerebellum and other pathological conditions that are characterized by cerebellar enlargement such as Lhermitte-Duclos, Sotos syndrome, Costello syndrome, Williams syndrome, Alexander disease and fucosidosis. Furthermore a detailed review of the patients with macrocerebellum described in literature is provided in order to clarify what are the other common clinical and neuroradiological features. Macrocerebellum is always associated with an abnormal mental and motor development and often with abnormalities of the cerebral white matter (WM) (including corpus callosum dysgenesis) and dysmorphisms. Furthermore one of the patients in our cohort had a genetic diagnosis of Rubinstein-Taybi syndrome (RTS) (mutation in CREBBP gene). This is the largest cohort of patients with macrocerebellum described so far. The data available in literature on this entity show that macrocerebellum is not a specific disease but an epiphenomenon found in heterogeneous brain disorders.},
issn = {2223-4306}, url = {https://qims.amegroups.org/article/view/10923}
}