Diencephalic-mesencephalic junction dysplasia syndrome

Definition:

Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial sections on MRI. Patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. A few genes that cause DMJDS have been identified.

References:

[1]. Maha S Zaki, et al. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug;135(Pt 8):2416-27. [Content Brief]

[2]. Roberta De Mori, et al. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. Brain. 2019 Oct 1;142(10):2965-2978. [Content Brief]

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