Abstract

Gilles de la Tourette syndrome (GTS) is a childhood-onset neurological disorder characterized by multiple motor and vocal tics. This case report describes the clinical history and symptoms of an Estonian female patient (17-year-old) with GTS syndrome along with the segregation analysis of respective symptoms in her pedigree. Her motor ticks started at the age of 6 and vocal tics, at 11 years of age. The symptoms have waxed and waned spontaneously with no completely symptom-free periods. Her ticks usually increase with stress, anxiety, and tiredness and decrease during highly focused activities (e.g. creative tasks or sports), and disappear in sleep. This pattern of symptoms clearly meets the diagnostic criteria for GTS, but so far she has remained without a specific diagnosis and treatment.

Heritability of GTS is well known. Patient’s family history proves support to the contribution of genetic factors to her disease. In total eight family members have experienced chronic motor and vocal tics during their lifetime. In two cases motor ticks have been reported, but have also remained untreated.

The described family case alerts that today GTS, even a familial case, may remain unrecognized, underdiagnosed and untreated.