The near-total absence of the cerebellum is a rare congenital condition with a wide phenotypic heterogeneity ranging from a severe to mild impairment of motor, cognitive, and behavioral functions. In this study, the case of a 48-year-old right-handed man with a near-total absence of the cerebellum was examined with the aim of understanding the long-term reorganization of a brain developed without a cerebellum. Clinical, neuropsychological evaluation and a neuroimaging study on a 3-T scanner were carried out. Both conventional structural diffusion tensor imaging (DTI) and functional (resting-state fMRI) data were acquired. A severe neuropsychomotor delay in infancy and adolescence involving motor skills, cognitive, and affective competencies was observed, which improved over the years. Conventional MRI findings confirmed the complete absence of the cerebellum. Analysis of DTI and resting-state fMRI data showed an impairment of the executive-control network, involving areas strongly connected with the cerebellum through the frontopontine fibers. The neuroimaging findings excluded the involvement of the extracerebellar structure. In conclusion, our data support the vascular genesis hypothesis for this rare pathology, consistent with an acquired embryonic cerebellar insult. This case also shows that it is possible to learn to live without the cerebellum over time.
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bNeuropsychiatry and Neurorehabilitation Unit, Scientific Institute, Lecco
cDepartment of Information Engineering, University of Padova, Padova
dMandel Laboratory, Scientific Institute, San Giovanni Rotondo, Italy
* Filippo Arrigoni and Romina Romaniello contributed equally to the writing of this article.
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Correspondence to Renato Borgatti, MD, Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Via D. L. Monza 20, 23842 Bosisio Parini, Lecco, Italy Tel: +39 031 877 111; fax: +39 031 877 499; e-mail: firstname.lastname@example.org
Received June 18, 2015
Accepted June 29, 2015