Case report: Evolution of catatonic mutism and psychotic symptoms in an adolescent with Down syndrome: transition from Down syndrome disintegrative disorder to anti-N-methyl-D-aspartate receptor encephalitis.
Case report: Evolution of catatonic mutism and psychotic symptoms in an adolescent with Down syndrome: transition from Down syndrome disintegrative disorder to anti-N-methyl-D-aspartate receptor encephalitis.
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DOI：
10.3389/fneur.2023.1200541
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发表时间：
2023
影响因子：
3.4
通讯作者：
中科院分区：
文献类型：
--
作者：
一名患有唐氏综合症的12岁日本女孩在初中一年级时出现了头晕、步态紊乱、手部阵发性无力和说话迟缓的症状。常规血液检查和脑部核磁共振检查没有发现异常，初步诊断为适应障碍。9个月后，患者出现亚急性胸痛、恶心、夜惊伴睡眠问题、观察幻觉。随后迅速恶化，并发发热、不动性失语、面部表情丧失和尿失禁。这些紧张性症状在入院并接受劳拉西泮、艾司西酞普兰和阿立哌唑治疗几周后得到改善。尽管如此，出院后，白天的睡眠，空洞的眼睛，矛盾的笑声和语言交流的减少仍然存在。脑脊液n -甲基- d -天冬氨酸（NMDA）受体自身抗体确认后，尝试甲强的松龙脉冲治疗，但效果不大。在接下来的几年里，视觉幻觉和神经症，以及自杀的想法和死亡的妄想占据了主导地位。脑脊液IL-1ra、IL-5、IL-15、CCL5、G-CSF、PDGFbb、VFGF在非特异性主诉初始就诊早期升高，但在紧张性沉默症和精神病症状的晚期不明显。基于这一经验，我们提出了从唐氏综合征崩解性障碍到NMDA受体脑炎进展的疾病概念。
During her first year of junior high school, a 12-year-old Japanese girl with Down syndrome experienced dizziness, gait disruption, paroxysmal weakness in her hands, and sluggish speaking. Regular blood tests and a brain MRI revealed no abnormalities, and she was tentatively diagnosed with adjustment disorder. Nine months later, the patient experienced a subacute sickness of chest pain, nausea, sleep problem with night terrors, and delusion of observation. Rapid deterioration then developed with simultaneous fever, akinetic mutism, loss of facial expression, and urine incontinence. These catatonic symptoms improved after a few weeks after admission and treatment with lorazepam, escitalopram, and aripiprazole. After discharge, nonetheless, daytime slumber, empty eyes, paradoxical laughter, and declined verbal communication persisted. Upon confirmation of the cerebrospinal N-methyl-D-aspartate (NMDA) receptor autoantibody, methylprednisolone pulse therapy was tried, but it had little effect. Visual hallucinations and cenesthopathy, as well as suicidal thoughts and delusions of death, have predominated in the following years. Cerebrospinal IL-1ra, IL-5, IL-15, CCL5, G-CSF, PDGFbb, and VFGF were raised in the early stage of initial medical attention with nonspecific complaints, but were less prominent in the later stages of catatonic mutism and psychotic symptoms. We suggest a disease concept of progression from Down syndrome disintegrative disorder to NMDA receptor encephalitis, based on this experience.
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DOI：
10.1093/brain/awab387
发表时间：
2022-05-24
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.2
作者：
Miles, Judith H.;Takahashi, Nicole;Ithman, Muaid
通讯作者：
Ithman, Muaid
DOI：
10.1016/s1474-4422(15)00401-9
发表时间：
2016-04
期刊：
The Lancet. Neurology
影响因子：
--
作者：
Graus F;Titulaer MJ;Balu R;Benseler S;Bien CG;Cellucci T;Cortese I;Dale RC;Gelfand JM;Geschwind M;Glaser CA;Honnorat J;Höftberger R;Iizuka T;Irani SR;Lancaster E;Leypoldt F;Prüss H;Rae-Grant A;Reindl M;Rosenfeld MR;Rostásy K;Saiz A;Venkatesan A;Vincent A;Wandinger KP;Waters P;Dalmau J
通讯作者：
Dalmau J
影响因子：
64.3
作者：
Pollak, Thomas A.;Lennox, Belinda R.;Bechter, Karl
通讯作者：
Bechter, Karl
影响因子：
3.8
作者：
Ho, Alvin C. C.;Mohammad, Shekeeb S.;Dale, Russell C.
通讯作者：
Dale, Russell C.