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阿拉吉尔综合征:一例突出面部畸形、慢性疾病和抑郁症的病例报告

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.

作者信息

Bresnahan James J, Winthrop Zachary A, Salman Rabia, Majeed Salman

机构信息

The Pennsylvania State University College of Medicine, Hershey, PA, USA.

Nishtar Medical College, Multan, Pakistan.

出版信息

Case Rep Psychiatry. 2016;2016:1657691. doi: 10.1155/2016/1657691. Epub 2016 Nov 27.

Abstract

Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder.

摘要

阿拉吉列综合征是一种罕见的多系统疾病,会影响肝脏、心脏、脊椎、眼睛和面部。阿拉吉列综合征与其他先天性或儿童慢性疾病有多种表型变异,如迪乔治综合征、唐氏综合征、脊柱裂、1型糖尿病和囊性纤维化。所有这些慢性疾病都与精神疾病有确凿的联系。由于阿拉吉列综合征极为罕见,针对该病症患者的社区资源很少。尽管与其他儿童慢性疾病存在重叠,但阿拉吉列综合征的精神表现此前尚未在文献中讨论过。本研究是一例12岁女性的病例报告,该患者因有自杀意念、意图和计划而入住我们的儿科精神病医院。该患者患有重度抑郁症、焦虑症、其他特定的喂养和进食障碍以及注意力缺陷/多动障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eed3/5149642/64734e646f2f/CRIPS2016-1657691.001.jpg

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