Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.

Clozapine-induced severe eosinophilia: report of a case with good outcome / Eosinofilia induzida por clozapina: relato de um caso de bom desfecho

INTRODUCTION: Clozapine is the antipsychotic of choice in the treatment of refractory schizophrenia. However, its side effects, such as eosinophilia, may preclude its use. METHODS: Case report and literature review. RESULTS: Young woman, 19 years old, diagnosed with hebefrenic schizophrenia, admitted at Unicamp's psychiatry ward after psychotic symptoms relapse. Clozapine was started after unsuccessful attempts with risperidon and olanzapine. By the fourth week of clozapine use, eosinophils began to increase. Drug titration was stopped, but eosinophils counts continued to rise up, reaching the mark of 5200/mm³. Due to severity of psychotic symptoms and to the good response obtained with clozapine, we decided to investigate organs involvement before withdrawing the medication. As the patient had no organs involvement, clozapine was maintained and one month after eosinophils peak, it was already normalized. CONCLUSION: Eosinophilia should not necessarily lead to clozapine's withdrawal. Patients who present eosinophilia must be at rigorous observation for organs involvement, and if there is no such involvement, clozapine might be maintained, considering the possible benign and transitory nature of the eosinophils count elevation.

INTRODUÇÃO: Clozapina é o antipsicótico de escolha no tratamento de esquizofrenia refratária. No entanto, ela apresenta uma série de efeitos colaterais, como a eosinofilia, os quais podem inviabilizar sua continuação. MÉTODOS: Relato de caso e revisão da literatura. RESULTADOS: Jovem de 19 anos, com diagnóstico de esquizofrenia hebefrênica, internada na enfermaria de psiquiatra do HC-Unicamp por reagudização de sintomas psicóticos. Durante internação, após tentativas frustradas de uso de antipsicóticos como risperidona e olanzapina, iniciou-se clozapina. Na quarta semana após introdução, iniciou-se aumento de eosinófilos. Tendo em vista a gravidade do quadro e a ótima resposta obtida com relação aos sintomas psicóticos, o aumento de dose de clozapina foi interrompido, mas a medicação foi mantida. Mesmo com a dose estabilizada, a eosinofilia continuou a aumentar, chegando a 5.200/mm³. A paciente foi investigada para lesões de órgãos pela possível inflamação, mas nada foi encontrado. Assim, clozapina foi mantida e, um mês após seu pico, eosinófilos normalizaram-se. CONCLUSÃO: Eosinofilia não necessariamente impõe a interrupção de clozapina. O paciente deve ser mantido em observação rigorosa em busca de lesões de órgãos. Caso não haja indício de lesões, é justificável manter a clozapina, tendo em vista o possível caráter benigno e transitório da eosinofilia.