What This Means
This research describes two unrelated adults who were diagnosed with 22q11.2 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome) only after they sought neurological care as adults. In both cases, the initial concern was a progressive movement or motor problem — one patient had spastic walking difficulties and coordination problems, while the other had symptoms resembling Parkinson's disease including stiffness and slowness, along with calcium deposits in a specific brain region. Genetic testing through whole-exome sequencing revealed that both patients had a deletion on chromosome 22, a genetic change that is typically associated with heart defects, immune problems, and developmental issues identified in childhood.
The significance of these cases is that 22q11.2 deletion syndrome is commonly diagnosed in infancy or childhood based on distinctive physical features and organ abnormalities, but it can go unrecognized into adulthood when the presenting complaint is neurological. Both patients also had other subtle clues that, in retrospect, pointed toward the syndrome — including learning difficulties, abnormal palate or facial features, psychiatric symptoms, and family members with similar problems. The authors note that the genetic deletion sizes are estimates because full confirmatory testing was not performed, which is a limitation of the study.
This research suggests that neurologists evaluating adults with progressive motor problems, movement difficulties, or brain imaging findings like basal ganglia calcification should consider asking about developmental history, look for physical features like palate abnormalities, and take a careful family history. When these features are present alongside neurological symptoms, genetic testing capable of detecting missing segments of chromosomes — not just point mutations — may be warranted to avoid missing a diagnosis of 22q11.2 deletion syndrome.