title: Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
abstract: BACKGROUND
  beta-Mannosidosis is a rare inborn error of metabolism with various phenotypes, including mental retardation, behavioral problems, hearing loss, and recurrent airway infections in childhood. To our knowledge, there is no published description of Gilles de la Tourette syndrome in association with this enzymatic deficiency.
  
  
  OBJECTIVE
  To describe a unique case of Gilles de la Tourette syndrome associated with beta-mannosidosis.
  
  
  METHODS
  University hospital. Patient An 18-year-old man exhibited motor and vocal tics since childhood, attention-deficit/hyperactivity disorder, impulsivity, and aggressiveness compatible with Gilles de la Tourette syndrome. A screen for inborn errors of metabolism was made because of the atypical association with slight mental retardation and bilateral perceptive hypoacousia.
  
  
  RESULTS
  Urinary analysis showed disacchariduria, and leukocyte analysis revealed a profound deficit in beta-mannosidase activity. Two novel mutations in the beta-mannosidase gene were found: a new splice mutation in one allele, and a unique 10-base-pair insertion in the other.
  
  
  CONCLUSIONS
  This case illustrates the phenotypic variability of inborn errors of metabolism in adults and demonstrates the need to screen inborn errors of metabolism in atypical Gilles de la Tourette syndrome.
authors.affiliation: Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. frederic.sedel@psl.ap-hop-paris.fr
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
authors.forename: Karen
authors.initials: K
authors.lastname: Friderici
authors.forename: Katherine
authors.initials: K
authors.lastname: Nummy
authors.forename: Catherine
authors.initials: C
authors.lastname: Caillaud
authors.forename: Allel
authors.initials: A
authors.lastname: Chabli
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Catherine
authors.initials: C
authors.lastname: Lubetzki
authors.forename: Yves
authors.initials: Y
authors.lastname: Agid
mesh_terms: D000293:Adolescent; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D005879:Tourette Syndrome / Q000201:enzymology / Q000235:genetics / Q000652:urine*; D044902:beta-Mannosidase / Q000172:deficiency* / Q000652:urine
chemical_list: D044902:beta-Mannosidase