Objective: To present a novel case of Tourettism emerging within the Xq25 microduplication syndrome.

Background: Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder hallmarked by the presence of motor and vocal tics and often accompanied by comorbid psychiatric and behavioral symptoms. The etiology is complex and posited to be multifactorial, with a clear role of genetics. Many genetic loci have been implicated but to our knowledge there has not been an association with Xq25 microduplication, which itself has previously been typified by neurodevelopmental delay, speech deficits, a specific facial phenotype and widespread hypotonia.  Behavioral abnormalities have been described including hyperactivity, autistic behavior, and opposition, but never tics or tremors.  We present a case of an adolescent with Xq25 microduplication and significant Tourettism.

Methods: Case report.

Results: A 16-year-old male presented to our movement disorders clinic for further evaluation and treatment of motor and vocal tics presenting over the last year.  Motor tics included blinking, nodding, pulling back lips, clonic truncal contractions, and arm movements like conducting an orchestra.  Vocalizations included grunting, whispering, and more complex phrases and sentences, all starting at 16 years old[IM1] .  He manifested anxiety and aggressive behavior.  Birth history had been relatively uncomplicated except for mild jaundice, but he had early global neurodevelopmental delay and significant regression of prior milestones starting at 10 years old. He was known to have seizures, self-injurious behavior and mild low amplitude tremor prior to onset of tics. Exam demonstrated a tall, thin male for age with retrognathism and a supernumerary nipple. Multiple simple motor and vocal tics were recorded. Prior to our visit a genetic microarray proved to be remarkable for a 3.7Mb interstitial duplication of the Xq24-25 gene locus which included the genes GRIA3, XIAP and STAG2 which have been previously associated with intellectual disability and other symptoms, but not reported to be associated with tics or Tourettism.

Conclusions: We report the first case of Tourettism associating with the Xq25 microduplication syndrome. This, along with limited scattered reports, serve to continue to expand the understanding of Xq24-25 microduplication syndrome and to potentially expand the complex genetic network implicated in the phenomenology of TS.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/tourettism-associated-with-the-xq25-microduplication-syndrome/