抗 N-甲基-D-天冬氨酸 (NMDA) 受体脑炎与 Chediak-Higashi 综合征的关联。
Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.
机构信息
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangaluru, Karnataka, India.
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangaluru, Karnataka, India. Correspondence to: Dr Vykuntaraju K Gowda, Bangalore Child Neurology and Rehabilitation Centre, Vijaynagar, Bangaluru 560 040, India.
出版信息
Indian Pediatr. 2019 Jun 15;56(6):501-503.
BACKGROUND
Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.
CASE CHARACTERISTICS
A 2 years 10 month old girl with silvery hair syndrome presented with sub-acute onset behavioral issues, ataxia and multiple type abnormal movements. Cerebrospinal fluid examination was positive for Anti NMDA receptor antibodies. Hair shaft examination and peripheral blood film findings were suggestive of Chediak Higashi syndrome.
MESSAGE
Anti NMDA receptor encephalitis may be associated with Chediak Higashi Syndrome.
背景
Chediak-Higashi 综合征的神经表现主要包括周围神经病、共济失调、震颤、颅神经麻痹、智力下降和癫痫发作。
病例特点
一名 2 岁 10 个月大的患有银发白化病综合征的女孩亚急性起病，出现行为问题、共济失调和多种类型的异常运动。脑脊液检查抗 NMDA 受体抗体阳性。毛发轴检查和外周血片结果提示 Chediak-Higashi 综合征。
提示
抗 NMDA 受体脑炎可能与 Chediak-Higashi 综合征有关。
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