Bulgarian Journal of Psychiatry, 2024; 9(4):31-37

TWO CASES OF GILLES DE LA TOURETTE SYNDROME IN ONE FAMILY

Elena Ivanova

Department of Psychiatry and Medical Psychology, Medical University – Sofia

 

Abstract. The article presents the cases of two half-brothers with Gilles de la Tourette syndrome and concomitant intellectual disability, manifestation of dysmorphic features (small upward slanting eyes, large low-set dysplastic ear auricles, and short neck), and a family history of tics on their mother’s side – relatives with tics in their childhood. Tics and Tourette syndrome have been diagnosed only in male members of this family. The genetic screening performed in both patients did not find presence of the fragile X chromosome syndrome.

Key words: Gilles de la Tourette, intellectual disability, fragile X chromosome

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