Vol 51, No 6 (2017)

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The patient with mild diencephalic–mesencephalic junction dysplasia – Case report and review of literature

Jacek Mądry1, Stanisław Szlufik1, Dariusz Koziorowski1, Leszek Królicki2, Andrzej Friedman1
DOI: 10.1016/j.pjnns.2017.08.005
Neurol Neurochir Pol 2017;51(6):514-518.


Diencephalic–mesencephalic junction dysplasia (DMJD) is very rare congenital brain malformation. We present a 66-years-old man with mild cognitive impairment, dysarthria, deafness, gait abnormality, and involuntary movements of the trunk. The first symptoms, psychomotor excitation and anxiety begun when he was over thirty years old however the symptoms gradually intensified and slowly progressed. The magnetic resonance imaging scans showed partial DMJD. According to recent date it represented type-B of the malformation with relatively mild phenotype in relation to the previously described in literature type-A. To the best of our knowledge this is the first description of an adult patient diagnosed with DMJD anomaly.

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Neurologia i Neurochirurgia Polska