Matsumoto Hiroshi, Zaha Kiyotaka, Nakamura Yasuko, Hayashi Shin, Inazawa Johji, Nonoyama Shigeaki
Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Pediatr Neurol. 2014 Jul;51(1):170-5. doi: 10.1016/j.pediatrneurol.2014.03.013. Epub 2014 Apr 4.
Microdeletion of chromosome 9q33q34 is an emerging disease disorder associated with early infantile epileptic encephalopathy, intellectual disability, and a variety of movement disorders.
We describe a male infant with early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) who carried a de novo 2.0-Mb microdeletion in chromosome 9q33q34, including STXBP1. The previously reported examples of 9q33q34 microdeletion including STXBP1 are reviewed.
The patient developed infantile spasms at 4 months of age, and these were refractory to multiple antiepileptic drugs. He also developed severe dystonia during infancy, rotatory nystagmus, and nephroureteral malformations. Immunoglobulin and clobazam administered at 11 months were effective for the spasms, but profound psychomotor retardation remained. A comparative genomic hybridization array analysis and the fluorescence in situ hybridization analysis revealed a de novo 2.0-Mb microdeletion in chromosome 9q33q34, which encompasses STXBP1, ENG, SPTAN1, and 52 other genes. A total of 14 patients (13 from the literature) with a 9q33q24 microdeletion including STXBP1 were reviewed, five of them displayed early infantile epileptic encephalopathy with suppression-burst, and six of them had early-onset epilepsy but not early infantile epileptic encephalopathy. Dystonia has been previously described in 9q33q34 deletions involving TOR1A but not STXBP1. Neither abnormal eye movements nor nephroureteral malformations has been previously described.
This patient adds unique clinical presentations of neurological and nephroureteral abnormalities to the features of 9q33q34 microdeletion.
9q33q34染色体微缺失是一种新出现的疾病紊乱，与早期婴儿癫痫性脑病、智力残疾及多种运动障碍相关。
我们描述了一名患有早期婴儿癫痫性脑病伴抑制-爆发（大田原综合征）的男婴，其9q33q34染色体存在一个2.0兆碱基的新发微缺失，包括STXBP1基因。对先前报道的包含STXBP1的9q33q34微缺失病例进行了回顾。
该患者4个月大时出现婴儿痉挛，多种抗癫痫药物治疗无效。婴儿期还出现了严重的肌张力障碍、旋转性眼球震颤及肾盂输尿管畸形。11个月时给予免疫球蛋白和氯巴占对痉挛有效，但仍存在严重的精神运动发育迟缓。比较基因组杂交阵列分析和荧光原位杂交分析显示9q33q34染色体存在一个2.0兆碱基的新发微缺失，涵盖STXBP1、ENG、SPTAN1及其他52个基因。共回顾了14例（13例来自文献）包含STXBP1的9q33q24微缺失患者，其中5例表现为早期婴儿癫痫性脑病伴抑制-爆发，6例有早发性癫痫但无早期婴儿癫痫性脑病。先前曾报道9q33q34缺失涉及TOR1A而非STXBP1时会出现肌张力障碍。此前未描述过异常眼球运动和肾盂输尿管畸形。
该患者为9q33q34微缺失的特征增添了神经和肾盂输尿管异常的独特临床表现。
