Co-occurrence of Klinefelter Syndrome and Tourettism: a case report (P3.029)

We describe a case of patient with a concomitant diagnosis of Klinefelter Syndrome (KS) and Tourettism. Case description A 20-year old male with genetic diagnosis of Klinefelter syndrome was referred for evaluation of tics. His motor tics began at 4-years-old with repetitive eye fluttering, progressing over the years to a constellation of uncontrollable movements including painful head jerking, limb flailing, kicking, and vocalizations including humming, nose clearing, shouts, and specific words. The tics were preceded by an urge, were temporarily suppressible, and demonstrated rebound if suppressed (video). He also suffered from ADHD, which impaired his school performance. There was no family history of tics or ADHD. Discussion KS is characterized by the presence of an additional X chromosome, leading to a 47XXY karyotype4. It has been associated with delay in speech development, learning disabilities, and also with psychiatric comorbidities including ADHD and bipolar disorder3. Endocrine and neuropsychological changes in the KS phenotype are thought to be related to the additional genetic information contained within the extra chromosome X4. X-linked diseases, such as Fragile-X, have been associated with tremors, and, less commonly, associated with tics5. KS in particular has been associated with an essential tremor-like syndrome in a recent case series2. To our knowledge, this is the first case of KS with associated tics/ Tourettism, and we highlight this interesting ...
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Tics, Dyskinesias, and Chorea Source Type: research