Reis Filipa, Pereira Cristina, Laureano Maria, Cartaxo Teresa
Child and Adolescent Psychiatry, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.
Neuropediatrics, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.
Cureus. 2020 Mar 8;12(3):e7203. doi: 10.7759/cureus.7203.
The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay and mild dysmorphisms. Other comorbid presentations reported in the literature include psychiatric disorders such as behavioral disorders, attention-deficit/hyperactivity disorders, elimination disorders, and autism spectrum disorders. The current case is of an adolescent girl with the 3q29 microduplication syndrome who had a diverse psychiatric presentation. The patient was a 14-year-old girl in institutional care, with a moderate intellectual developmental disorder, major behavioral problems, with auto- and hetero-aggressions and a suspicious trait, who presented with frequent episodes of emotional dysregulation, disorganized speech with derailment, incoherence, perseveration and grossly disorganized behavior. Auditory hallucinations were suspected sometimes but were difficult to evaluate. In our assessment, we were not able to determine a diagnosis because the symptoms do not seem to be defined by any classification. Major pharmacological and non-pharmacological interventions were needed to manage this case.
3q29微重复综合征通常与智力残疾或全面发育迟缓以及轻度畸形有关。文献中报道的其他共病表现包括精神疾病,如行为障碍、注意力缺陷/多动障碍、排泄障碍和自闭症谱系障碍。目前的病例是一名患有3q29微重复综合征的青春期女孩,其有多种精神症状表现。该患者是一名14岁的女孩,在福利院生活,有中度智力发育障碍、严重行为问题,存在自我攻击和他人攻击行为以及多疑特质,经常出现情绪失调、言语紊乱伴思维奔逸、语无伦次、持续言语和严重的行为紊乱。有时怀疑有幻听,但难以评估。在我们的评估中,由于症状似乎不符合任何分类,所以无法做出诊断。需要采取主要的药物和非药物干预措施来处理该病例。