Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification

Abstract Background Chromosome 6p25 deletion syndrome is a rare neurocristopathy with variable clinical features. The objective of the current study was to describe a novel phenotype for autosomal‐dominant chromosome 6p25 deletion syndrome. The presentation included bilateral basal ganglia and subcortical calcifications and juvenile parkinsonism, resembling primary familial brain calcification. Methods Phenotypic characterization, exome sequencing, and oligonucleotide array were carried out in the index family. Results The index patient and her mother had a history of developmental delay, mild facial dysmorphism, Axenfield eye anomalies, slight intellectual disability, and subsequently developed levodopa‐responsive parkinsonism in early adulthood. Brain‐computed tomography showed bilateral basal ganglia and subcortical calcifications. Magnetic resonance imaging revealed diffuse white matter lesions. A 99mTc TRODAT single‐photon emission computed tomography scan revealed bilateral dopaminergic denervation. Whole‐exome sequencing and oligonucleotide array‐based comparative genomic hybridization revealed a 2.27‐Mb chromosome 6pter‐p24 deletion, which cosegregated within the family. Conclusions Our findings extended the current phenotypic spectrum of chromosome 6p25 deletion syndrome. © 2020 International Parkinson and Movement Disorder Society