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Résumé Introduction La microdélétion 22q11 est une affection génétique associant un syndrome poly-malformatif et une dysimmunité. L’association de manifestations auto-immunes au déficit immunitaire constitue l’enjeu thérapeutique de cette affection. Observation Nous rapportons l’observation d’un patient de 28 ans consultant pour des manifestations hémorragiques révélant une thrombocytopénie (numération plaquettaire : 15 000/mm 3 ) de mécanisme mixte, immunologique et central. Les antécédents du patient, l’existence d’un syndrome malformatif cardio-facial, d’une hypoparathyroïdie et d’un déficit immunitaire modéré conduisaient au diagnostic moléculaire de syndrome de délétion 22q11. Après échec des immunoglobulines polyvalentes, un traitement par rituximab seul permettait une ré-ascension du taux de plaquettes à ses valeurs usuelles de 100–120 000/mm 3 en 4 semaines et une rémission complète du tableau hémorragique sans complication infectieuse associée après 4 ans de suivi. Conclusion Le rituximab peut être une alternative thérapeutique à la corticothérapie au cours des manifestations auto-immunes associées aux formes modérées de syndrome 22q11, sans en aggraver le déficit immunitaire. Introduction 22q11 deletion is a common genetic disorder which associates a polymalformative syndrome to dysimmune features. Autoimmunity and immune deficiency manifestations are often associated, resulting in a therapeutic challenge for this disease. Case report We report a 28-year-old patient who presented with hemorrhagic manifestations leading to the diagnosis of severe thrombocytopenia (15,000/mm 3 ), of both central and peripheral origin. Patient history, cardio-facial malformative syndrome, hypoparathyroidism and partial immune deficiency led to the molecular diagnosis of 22q11 deletion syndrome. After failure of polyvalent immunoglobulin infusions, rituximab alone allowed the increase of platelets to their usual level of 100–120,000/mm 3 within 4 weeks and a complete clinical remission of the hemorrhagic syndrome, without any infectious complication after a 4-year follow-up. Conclusion Rituximab may be an alternative to corticosteroid for the treatment of auto-immune manifestations associated with minor forms of 22q11 deletion syndrome without significant worsening of the immune deficiency. [ABSTRACT FROM AUTHOR]

Introduction: In France, attention deficit disorder (ADHD) has traditionally met with two opposing approaches (biological and psychoanalytic). This conflict led us to conduct a multidisciplinary observational study, on a group of 36 children over a period of 1 year., Methods: Thirty-six children with ADHD diagnostic (DSM IV), not treated by MPH were included. Initial "multi-field" evaluation (T0) consisted of: neuro-paediatric consultation (Conners questionnaire, Child Behaviour Checklist, reading and writing scores by French tests); semi-structured child psychiatric interview (DSM-IV axis I), structural hypothesis (CFTMEA), existence of narcissistic fragility, parents/child interactions; neuropsychological standardized evaluation (attention and executive functions); psychodynamic interview and projective tests (Rorscharch, CAT or TAT). A therapeutic project is proposed combining MPH and psychotherapy according to the results. A new evaluation 1 year later (T1) included a consultation and a neuropsychological evaluation. RESULTS T0: All parental questionnaires appreciating attention deficit and hyperactivity/impulsivity were significantly pathological. The neuropsychological evaluation showed usual characteristics of ADHD with individual differences. The psychiatric evaluation revealed the frequency of comorbidity in axis I (23% of children with more than two diagnoses, 57% with anxiety disorder, 23 and 3% with oppositional and conduct disorder). FOLLOW UP (T1): Thirty-one children were re-examined (20 treated by MPH and 11 not treated because of parental refusal or particular psychopathological situations). Psychoanalytical psychotherapy, proposed to 28 children, was undertaken with only 19. An improvement in scores for attention and executive tests was registered only in the treated group., Discussion: The tests confirm deficits of attention and executive functions without correlation with the scores of questionnaires, underlining the need for a neuropsychological evaluation to objectify attention disorders. Projective tests refine and enrich psychiatric evaluation and showed that half of the children had borderline organization. However, structural hypotheses were heterogeneous, suggesting the need for specific therapeutic projects to be devised according to each child. The treated children were the only ones to improve attention deficit. On the other hand, the scores of anxiety are not improved by MPH, emphasizing the indications of psychotherapy if comorbidity is present. Psychotherapeutic care was carried out only among part of the population, because of parental reservations, exacerbated by differences of opinion among professionals and lack of access., Conclusion: This study is innovative, providing precise data on ADHD from a multidisciplinary perspective. Psychopathological comorbidity is high in this population, so the concept of ADHD cannot be limited to a cognitive point of view. These elements and doubts regarding the efficacy of behavioural therapies suggest the need for a rigorous evaluation of analytical psychotherapies independent of MPH to treat attention deficit., (Copyright © 2011 L'Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.)