Yoshida Kazunari, Müller Daniel J, Desarkar Pushpal
Azrieli Adult Neurodevelopmental Centre, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Tanenbaum Centre for Pharmacogenetics, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
Front Psychiatry. 2023 Jul 27;14:1174195. doi: 10.3389/fpsyt.2023.1174195. eCollection 2023.
Kleefstra syndrome is a rare genetic condition, which affects at least 1 in 120,000 individuals who have a neurodevelopmental disorder, characterized by the core clinical phenotype of intellectual disability, hypotonia, severe speech delay, and distinct facial characteristics with additional clinical features including sleep disturbance, overweight, psychiatric disorders, and autism spectrum disorder. To date, a limited number of case reports of Kleefstra syndrome with psychiatric manifestations have been reported.
We reported a case of a 35-year-old male diagnosed with Kleefstra syndrome, who also had diagnoses of autism spectrum disorder and moderate to severe intellectual disability. He exhibited various psychiatric manifestations, including temporarily manic-like symptoms, excessive eating/overweight, addictive/gambling behaviors, inappropriate and unsafe internet use, sleep disturbance, rigid routines, and behaviors that challenged in the form of meltdowns. These symptoms were eventually relatively successfully managed with a combination of non-pharmacological and pharmacological treatments.
To our knowledge, there is only a limited number of case reports that detail patients with Kleefstra syndrome exhibiting various psychiatric manifestations. Our report adds further knowledge to the paucity of literature and highlights the effectiveness of a combination of non-pharmacological and pharmacological treatments for behavioral/psychiatric difficulties in Kleefstra syndrome.
克莱夫斯特拉综合征是一种罕见的遗传性疾病，在每120,000名患有神经发育障碍的个体中至少有1人受其影响，其核心临床表型为智力残疾、肌张力减退、严重语言发育迟缓以及独特的面部特征，还伴有包括睡眠障碍、超重、精神障碍和自闭症谱系障碍等其他临床特征。迄今为止，仅有数量有限的关于伴有精神症状的克莱夫斯特拉综合征的病例报告。
我们报告了一例35岁男性被诊断为克莱夫斯特拉综合征的病例，该患者还被诊断患有自闭症谱系障碍和中度至重度智力残疾。他表现出各种精神症状，包括短暂的躁狂样症状、暴饮暴食/超重、成瘾/赌博行为、不当且不安全的互联网使用、睡眠障碍、刻板行为模式以及以情绪崩溃形式出现的具有挑战性的行为。这些症状最终通过非药物和药物治疗相结合的方式得到了相对成功的控制。
据我们所知，仅有数量有限的病例报告详细描述了患有克莱夫斯特拉综合征且表现出各种精神症状的患者。我们的报告为匮乏的文献增添了更多知识，并突出了非药物和药物治疗相结合对克莱夫斯特拉综合征行为/精神问题的有效性。
