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妄想性障碍,躯体型:一名患有妄想性三甲胺尿症患者的嗅觉参照综合征。

Delusional disorder, somatic type: olfactory reference syndrome in a patient with delusional trimethylaminuria.

作者信息

Ramos Natalia, Wystrach Carter, Bolton Michael, Shaywitz Jonathan, IsHak Waguih William

机构信息

Keck School of Medicine of USC, Los Angeles, CA, USA.

出版信息

J Nerv Ment Dis. 2013 Jun;201(6):537-8. doi: 10.1097/NMD.0b013e31829482fd.

DOI:10.1097/NMD.0b013e31829482fd
PMID:23719328
Abstract

Delusions of foul body odors (often referred to as olfactory reference syndrome [ORS]) currently fall under the category of delusional disorder, somatic type (DDST), in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). We present the case of a 51-year-old man with no previous psychiatric history who presented with perceived foul odors that he delusionally attributed to trimethylaminuria (TMAU). TMAU is a rare metabolic disorder associated with foul body odors. The patient also experienced severe concurrent mood symptoms because of social isolation resulting from his delusion about his body odors. After considerable discussion of differential diagnoses, a diagnosis of DDST was ultimately made, given the patient's unrelenting nonbizarre delusions and lack of insight pertaining to his body odors. However, this case proved to be very useful in exploring the diagnostic challenges in this type of disorder and recent discussions of ORS and its proposed inclusion in the DSM-5.

摘要

目前,在《精神疾病诊断与统计手册》第四版(DSM-IV)中,躯体异味妄想(通常称为嗅觉参考综合征[ORS])属于妄想障碍的躯体类型(DDST)。我们报告了一例51岁男性病例,该患者既往无精神病史,现出现自认为的难闻气味,并妄想性地将其归因于三甲胺尿症(TMAU)。TMAU是一种与躯体异味相关的罕见代谢紊乱疾病。由于对自身体味的妄想导致社交隔离,该患者还同时出现了严重的情绪症状。在对鉴别诊断进行了大量讨论后,鉴于患者存在持续的非怪异妄想且对自身体味缺乏洞察力,最终做出了DDST的诊断。然而,该病例在探索此类疾病的诊断挑战以及近期关于ORS及其拟纳入DSM-5的讨论中被证明非常有用。

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Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
利用全外显子组测序对三甲胺代谢受损进行基因分析。
BMC Med Genet. 2017 Feb 15;18(1):11. doi: 10.1186/s12881-017-0369-8.