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Atypical Gilles de la Tourette Syndrome With -Mannosidase Deficiency

Frédéric Sedel, MD, PhD; Karen Friderici, PhD; Katherine Nummy, PhD; Catherine Caillaud, MD, PhD; Allel Chabli, MD; Alexandra Dürr, MD, PhD; Catherine Lubetzki, MD, PhD; Yves Agid, MD, PhD

Arch Neurol. 2006;63:129-131.

Background  -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 -mannosidosis.

Setting  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 -mannosidase activity. Two novel mutations in the -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.

Author Affiliations: Fédération de Neurologie (Drs Sedel, Lubetzki, and Agid) and Fédération de génétique (Dr Dürr), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing (Drs Friderici and Nummy); Laboratoire de génétique, Hôpital Cochin, Paris (Dr Caillaud); and Laboratoire de biochimie B, Hôpital Necker-enfants malades, Paris (Dr Chabli).

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