[Bilateral submandibular gland excision for treatment of drooling in a child with mitochondrial encephalomyopathy] [0.03%]
[双侧颌下腺切除治疗线粒体脑肌病伴乳酸性酸中毒和卒中样发作患儿流涎的效果]
Miki Yamaura,Kitami Hayashi,Yuri Shirato et al.
Miki Yamaura et al.
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):56-7. DOI: 2017
[Three children with Lennox-Gastaut syndrome presenting long-term good seizure outcome under rufinamide treatment] [0.03%]
[3例难治性兰诺克斯-加斯特autism spectrum disorder综合征患儿拉芬那敏治疗长期良好疗效报道]
Kazuki Tsukamoto,Yukitoshi Takahashi,Rumiko Takayama
Kazuki Tsukamoto
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):54-6. DOI: 2017
[Neonatal herpes simplex encephalitis with bilateral temporal mega cystic lesion] [0.03%]
双侧颞叶囊性肿大的新生儿单纯疱疹病毒脑炎病例报告
Yuri Nagao,Kazue Kimura,Kei Hachimori et al.
Yuri Nagao et al.
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):53-4. DOI: 2017
[A clinical course of patient with Aicardi-Goutieres syndrome due to SAMHD1 gene abnormality] [0.03%]
Aicardi-Goutieres综合征伴SAMHD1基因异常患者的临床经过
Eri Watanabe,Kaori Onozawa,Takako Fujita et al.
Eri Watanabe et al.
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):51-2. DOI: 2017
[Diagnostic value of single photon emission computed tomography (SPECT) for patients with non-herpetic acute limbic encephalitis] [0.03%]
单光子发射计算机断层扫描(SPECT)在非带状疱疹急性边缘性脑炎诊断中的价值
Nanako Nishiguchi,Tatsuharu Sato,Kouhei Haraguchi et al.
Nanako Nishiguchi et al.
To evaluate the diagnostic value of SPECT (single photon emission computed tomography) brain blood flow imaging for patients with non-herpetic acute limbic encephalitis (NHALE). A retrospective review of three patients who had clinical symp...
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):46-50. DOI: 2017
[An infant in whom contrast-enhanced fluid attenuated inversion recovery (FLAIR) MRI was useful for the diagnosis of meningitis and devising a treatment strategy] [0.03%]
[对比增强流体衰减反转恢复序列MRI在婴儿脑膜炎诊断及制定治疗策略中的应用价值]
Shigeru Maruyama,Kazuki Kodera,Gen Kuratuji et al.
Shigeru Maruyama et al.
A 3-month-old male was brought to our hospital due to fever, poor sucking, and a bulging anterior fontanel. His general condition was poor. Analysis of the cerebrospinal fluid (CSF) showed increases in the cell count (8/μl) and the polymor...
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):42-5. DOI: 2017
[A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced] [0.03%]
[早发线粒体呼吸链疾病居家机械通气一例报告]
Mari Sugimoto,Takao Togawa,Kaori Aiba et al.
Mari Sugimoto et al.
We report the case of a patient born with extreme muscle hypotonia, respiratory failure, and slightly elevated serum levels of lactic acid. Histochemical examination and mitochondrial respiratory chain enzyme activities of a muscle biopsy s...
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):37-41. DOI: 2017
[A case of Dravet syndrome complicated by human herpesvirus-6 infection-associated acute encephalopathy and choreoathetosis] [0.03%]
[一例由人类疱疹病毒6感染相关急性脑病和手足徐动症并发的德拉韦综合征病例报告]
Yasuko Nakamura,Hiroshi Matsumoto,Kiyotaka Zaha
Yasuko Nakamura
We report the case of a 14-month-old girl with Dravet syndrome carrying a splice-site mutation of c. 1170+1G>A on neuronal sodium channel alpha 1 subunit (SCN1A). She had a history of recurrent febrile or afebrile seizures since 4 months of...
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):32-6. DOI: 2017
[A case of CDKL5 disorder: improved ADL by simple treatment strategy for intractable epileptic seizures] [0.03%]
[一种由难治性癫痫发作导致的CDKL5障碍病例：简单的治疗策略可改善患者日常生活能力]
Tatsuhiko Shike,Yukitoshi Takahashi,Nobusuke Kimura et al.
Tatsuhiko Shike et al.
CDKL5 gene mutations are the cause of symptomatic infantile epilepsy in some patients. Such patients present with partial seizures and characteristic hand movements that are often observed in patients with Rett syndrome. This clinical entit...
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):28-31. DOI: 2017
[Treatment of self-injurious behaviors in Lesch-Nyhan syndrome with S-adenosylmethionine] [0.03%]
用S腺苷甲硫氨酸治疗Lesch-Nyhan综合征的自伤行为
Masami Togawa,Yoshiaki Saito,Yoshihiro Maegaki et al.
Masami Togawa et al.
An 11-year-old boy with Lesch-Nyhan syndrome (LNS) had persistently injured himself by biting his lips and buccal mucosa since infancy. Risperidone was only partially effective in suppressing this behavior. Oral administration of S-adenosyl...
Case Reports
No to hattatsu = Brain and development. 2017 Jan;49(1):25-7. DOI: 2017