Objective: To describe two cases of adult-onset movement disorders with diencephalic-mesencephalic junction dysplasia(DMJD).

Background: DMJD is a rare malformation characterized by a poorly defined junction between diencephalon and mesencephalon. DMJD has been described in children with facial dysmorphisms, strabismus, psychomotor development delay, and seizures.

Methods: Cases description.

Results: First patient is a 40-years-old man presented with symmetrical action tremor in both hands, mild cephalic and voice tremor starting 3 years earlier. Past medical history was unremarkable, except for strabismus of the right eye. The tremor did not improve with different drug combinations. The second case is a 57 years-old woman with a 5-year history of action tremor of both hands and mouth. On neurological examination, she had mandibular tremor, bilateral asymmetric action and rest hand tremor, mild right bradykinesia, foot dystonia and choreiform movements. Blood test, including plasma levels of copper and ceruloplasmine, were normal. The genetic analysis ruled out Huntington disease. There was no response to levodopa. On the MRI of both cases we observed an abnormal morphology of the midbrain and a poorly-defined junction between the midbrain and the diencephalon

Conclusions: DMJD could be responsible of adult onset movement disorders and should take into account in the differential diagnosis of tremor and parkinsonism, especially in those cases with atypical presentation or poor response to treatment.

References: 1. Doherty D, Millen KJ, Barkovich AJ. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol 2013;12(4):381–93. 2. Zaki MS, Saalem SN, Grijalvo-Perez AM. Diencephalic– mesencephalic junction dysplasia: a novel recessive brain malformation. Brain 2012;135(8):2416–27.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/diencephalic-mesencephalic-junction-abnormalities-in-adult-onset-movement-disorders/