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The patient with mild diencephalic–mesencephalic junction dysplasia – Case report and review of literature
Affiliations- Department of Neurology, Medical University of Warsaw, 8 Kondratowicza str, 03-242 Warsaw, Poland
- Department of Nuclear Medicine and Magnetic Resonance, Medical University of Warsaw, Poland
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Abstract
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.
Abstract
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.
Keywords
Diencephalic–mesencephalic junction dysplasia (DMJD), Hypothalamic-mesencephalic fusion, Congenital brain malformation, Cognitive impairment
About this articleTitle
The patient with mild diencephalic–mesencephalic junction dysplasia – Case report and review of literature
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
514-518
Page views
319
Article views/downloads
1050
DOI
10.1016/j.pjnns.2017.08.005
Bibliographic record
Neurol Neurochir Pol 2017;51(6):514-518.
Keywords
Diencephalic–mesencephalic junction dysplasia (DMJD)
Hypothalamic-mesencephalic fusion
Congenital brain malformation
Cognitive impairment
Authors
Jacek Mądry
Stanisław Szlufik
Dariusz Koziorowski
Leszek Królicki
Andrzej Friedman
