open access

Vol 51, No 6 (2017)
Case reports
Submitted: 2017-03-05
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The patient with mild diencephalic–mesencephalic junction dysplasia – Case report and review of literature

Jacek Mądry, Stanisław Szlufik, Dariusz Koziorowski, Leszek Królicki, Andrzej Friedman
DOI: 10.1016/j.pjnns.2017.08.005
·
Neurol Neurochir Pol 2017;51(6):514-518.

open access

Vol 51, No 6 (2017)
Case reports
Submitted: 2017-03-05

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.

Get Citation

Keywords

Diencephalic–mesencephalic junction dysplasia (DMJD), Hypothalamic-mesencephalic fusion, Congenital brain malformation, Cognitive impairment

About this article
Title

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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 51, No 6 (2017)

Pages

514-518

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

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