[P3-91] Long-term Undiagnosed Gille de la Tourette Syndrome and Physician Lack of Training Video Case Report
Gille de la Tourette is a common yet greatly underdiagnosed neuropsychiatric disorder with onset at young age causing multiple motor and/or vocal tics that compromise the patient's quality of life. In this (video) case report, we present an adopted 14 year-old patient with no knowledge of his genetic background, and a history of a cardiopulmonary arrest at 6 months. He has a severe case of the syndrome in which he presents, at the moment, a total of 12 concurrent tics and a lifelong total of 17 that range from a barely noticeable but constant nose snuffling to easily spotted ones like shoulder muscle spasms. At the same time he has developed 3 different types of Obsessive-Compulsive Disorders and a mild case of developmental delay in which he progressed more slowly than other students but recently noticed a stagnation. This patient presented a very large range of symptoms during the most typical age of the syndrome’s onset (childhood), and regardless of these factors he was only diagnosed at the age of 14, after 9 years of the start of his symptoms, and after being assisted by 3 different Neuropediatricians or Neurologists. This denotes a lack of awareness and preparation for the identification of this syndrome leading to underdiagnosis in a wide scale. Late diagnosis can worsen not only the patient's quality of life but also his family and/or caretakers and therefore, this justifies the need of knowledge promotion about this syndrome to enable early diagnosis and treatment.