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迪格维-梅尔基奥尔-克劳森综合征与躁狂症的一种极其罕见的关联:巧合还是共病?

An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity.

作者信息

Kar Sujita Kumar, Bansal Shwetank, Kumar Deepak

机构信息

Department of Psychiatry, King George's Medical University, Lucknow, Uttar Pradesh, India.

Department of Psychiatry, Institute of Human Behavior and Allied Sciences (IHBAS), Delhi, India.

出版信息

Indian J Psychol Med. 2015 Apr-Jun;37(2):226-9. doi: 10.4103/0253-7176.155644.

Abstract

Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability. It an extremely rare condition. Till now, there was no evidence of association of Dyggve-Melchior-Clausen Syndrome with mood disorder. This case report highlights the extremely rare association of Dyggve-Melchior-Clausen syndrome with bipolar affective disorder. The patient had responded well to the combination of mood stabilizer and antipsychotics (sodium valproate and risperidone). To the best of author's knowledge, this is the first case report depicting such association. Both Dyggve-Melchior-Clausen syndrome and bipolar affective disorder are associated with 18q chromosome. This background information raises the possibility of co-morbid association of two disorders rather than a chance association due to genetic linkage.

摘要

迪格维-梅尔基奥尔-克劳森综合征是一种与智力发育迟缓相关的进行性脊柱-骨骺-干骺端发育不良,其特征为三联征,即骨骼畸形(短躯干侏儒症、脊柱侧弯、小头畸形和肢体畸形)、面部畸形和智力残疾。这是一种极其罕见的病症。到目前为止,没有证据表明迪格维-梅尔基奥尔-克劳森综合征与情绪障碍有关。本病例报告强调了迪格维-梅尔基奥尔-克劳森综合征与双相情感障碍之间极其罕见的关联。该患者对情绪稳定剂和抗精神病药物(丙戊酸钠和利培酮)的联合治疗反应良好。据作者所知,这是首例描述这种关联的病例报告。迪格维-梅尔基奥尔-克劳森综合征和双相情感障碍均与18号染色体相关。这一背景信息增加了两种疾病共病关联的可能性,而非由于基因连锁导致的偶然关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36d1/4418260/ae7affa4426e/IJPsyM-37-226-g001.jpg

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