tailieunhanh - báo cáo khoa học: "Gilles de la Tourette’s syndrome in a patient with 47(XXX) syndrome: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Gilles de la Tourette’s syndrome in a patient with 47(XXX) syndrome: a case report | Chiappedi et al. Journal of Medical Case Reports 2011 5 542 http content 5 1 542 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Gilles de la Tourette s syndrome in a patient with 47 XXX syndrome a case report Matteo Chiappedi Silvia de Vincenzi Roberta Dolci Sara De Luca and Maurizio Bejor Abstract Introduction To the best of our knowledge this is the first report of a comorbidity between Gilles de la Tourette s syndrome and 47 XXX syndrome. The clinical picture of Gilles de la Tourette s Syndrome is well described while 47 XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47 XXX syndrome she had some rather typical features of the chromosomal abnormality but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken a diagnosis of Gilles de la Tourette s Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes therefore it might be hard to discriminate the contribution of each one to the general impairment the same applies to anxiety. Moreover mental retardation with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches. Introduction 47 XXX syndrome also known as triple X syndrome was first described in 1959 by Jacobs and coworkers in a woman with ovarian failure 1 . The 47 XXX karyotype has a frequency of one in 1000 female newborns but this .