Parkinsonism-dystonia-2: Case-series study from Saudi Arabia

Abstract

Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes.

Figure 1

Panel A depicts the family pedigree. Circles denote female family members, squares male family members, black symbols affected family members, double bar indicates consanguinity. Panel B shows the profound unexplained sweating in case1, a child with PKDYS2. Panel C shows magnetic resonance imaging MRI for case 1, it shows bilateral symmetrical areas of abnormally high T2 signal intensity with corresponding restricted diffusion within the dorsal brainstem and pons.