Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本先天代謝異常学会  

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Language：English   Publishing type：Research paper (scientific journal)  

DOI： 10.3390/ijns8040052

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Publishing type：Research paper (scientific journal)   Publisher：The Japan Epilepsy Society  

DOI： 10.3805/eands.14.71

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本透析医学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(株)東京医学社  

5ヵ月男児。眼球を上転し、頭部を前屈させる発作を主訴とした。epileptic spasm発作出現から2日後に紹介入院し、発作間欠期脳波にてhypsarrhythmiaを認めたが、発症までの精神運動発達は正常で、知的退行はみられなかった。頭部CT検査や血液検査で原因となる疾患は認めず、潜因性West症候群と診断して発症3日目より連日ACTH 0.0125mg/kg/日の筋肉注射を開始した結果、開始3日後より脳波の改善がみられ、開始10日後に発作は消失し、開始12日後には脳波が正常化した。ACTHは2週間連続投与した後、減量中止し、開始12日目よりゾニサミド内服を開始したが、以後も発作はみられず、5歳時点の知的予後は良好である。潜因性West症候群の治療方針として、早期発見と早期のACTH療法開始が考慮されうることが示唆された。

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there have been no reports on the epidemiology of infantile SMA (types 1 and 2) based on genetic testing in Japan. In this study, we estimated the incidence of infantile SMA on Shikoku Island, which is a main island of Japan and consists of four prefectures: Ehime, Kagawa, Tokushima and Kochi. METHODS: A questionnaire was sent to 91 hospitals on Shikoku Island to investigate the number of SMA infants born from 2011 to 2015. A second questionnaire was then sent to confirm the diagnoses of SMA based on clinical and genetic features. RESULTS: Responses were received from all of the hospitals, and four patients were diagnosed with infantile SMA among 147,950 live births. We estimated the incidence of infantile SMA patients as 2.7 per 100,000 live births (95% confidence interval, 0.1-5.4). A comparison of the four prefectures indicated that the incidence of infantile SMA was significantly higher in Ehime Prefecture than in the other three prefectures; 5.6 per 100,000 live births (95% confidence interval, -0.7 to 11.9) in Ehime Prefecture and 1.1 per 100,000 live births (95% confidence interval, -1.0 to 3.1) in the other prefectures. CONCLUSION: We estimated the incidence of infantile SMA in an isolated area of Japan. For more precise determination of the incidence of infantile SMA, further studies that include neonatal screening will be needed.

DOI： 10.1016/j.braindev.2018.07.016

PubMed

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Language：English  

We evaluated the efficacy of linezolid treatment in 6 children with health care-associated meningitis or ventriculitis (HCAMV) caused by gram-positive cocci. All children were diagnosed and treated at the Ehime University Hospital between January 2010 and December 2017. Of these, 5 were treated with linezolid as an empirical therapy. In these 5 patients, vancomycin was initially used but was changed to linezolid because of cerebrospinal fluid (CSF) culture positivity (n = 3) and a high minimum inhibitory concentration of vancomycin (n = 2). The most common HCAMV pathogens were methicillin-resistant coagulase-negative staphylococci (n = 3). In 3 patients, vancomycin concentration was low in CSF but reached the target concentration in serum, while linezolid concentration was high in both CSF and serum. HCAMV treatment using antimicrobial agents with poor CSF penetration may increase the likelihood of therapy failure. Linezolid is more susceptible as the first-line treatment for HCAMV compared with vancomycin.

DOI： 10.1177/0009922818803399

Scopus

PubMed

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：日本重症心身障害学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

9ヵ月男児。在胎41週5日、体重3818g、Apgar Score 9点で出生、自治体のタンデムマス・スクリーニングでは日齢5の濾紙血液検査でC16-OH高値(三頭酵素欠損症の疑い)が指摘されていた。今回、前日から38℃台の発熱を認め近医の小児科を受診、インフルエンザと診断され帰宅するも、急速に呼吸状態が悪化し心肺停止となった。以後、心肺蘇生を行ないつつ著者らの施設に救急般送されたが、約2時間後に死亡が確認された。本症例では救急般送時の検査の時点から先天性代謝異常症の疑いがあり、死後の急性期における分析では濾紙血のタンデムマス分析でC0の低値が、また血清のタンデムマス分析では長鎖アシルカルニチンの上昇などの所見が認められた。最終的には遺伝子検査によりカルニチンパルミトイルトランスフェラーゼ-II(CPT2)欠損症と確定診断された。尚、本疾患はタンデムマス・スクリーニングで発見可能であるが、診断精度などから二次対象疾患であり自治体によってはタンデムマス検査を受けても見逃している可能性がある。したがって、今後は一次対象疾患への変更ほか、精密検査では血清のアシルカルニチン分析がより重要と考えられる。

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Objective: Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman syndrome. This makes the diagnosis of the former subgroup often difficult. We here characterized epilepsy, specifically the types of tremulous movement, in 4 patients (age, 3-38 years) with Angelman syndrome caused by UBE3A mutations.
Methods: Ictal electroencephalography was used to record episodic tremors in all study patients. Jerk-locked averaging was performed using digital electroencephalography and surface electromyogram data from patients who were monitored for 24 h.
Results: All patients had tremors in the limbs, head, and trunk, which resulted in 2 patients falling backward. These tremors lasted several seconds, and could emerge in clusters for hours in older patients. In addition, the tremors coincided with 7-8 Hz rhythmic activity with a frontocentral predominance, diffuse spike-wave bursts, or no apparent change on electroencephalography. In 2 patients, these tremors were confirmed as cortical myoclonus using jerk-locked averaging. The other seizure types were isolated generalized myoclonus and tonic seizures. None of the patients experienced atypical absence seizures. Levetiracetam therapy was effective in controlling the myoclonic events in 2 of the 3 patients.
Conclusion: Semirhythmic myoclonus is common in patients with Angelman syndrome caused by UBE3A mutations, and such myoclonic events are often life disabling. The preserved expression of gamma-aminobutyric acid type A receptor subunit genes located proximal to UBE3A might explain the low prevalence of absence seizures in this population. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2014.04.005

Web of Science

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：日本小児科学会  

CiNii Books

J-GLOBAL

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：ELSEVIER SCIENCE BV  

Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH presenting with infantile spasms without hypsarrhythmia. [(18)F]fluoro-deoxyglucose positron emission tomography scan performed during the period of epileptic spasms demonstrated glucose hypermetabolism of the HH, which resolved after cessation of the spasms with adrenocorticotropin hormone treatment. No concurrent increased metabolic activity in the lenticular nuclei or brainstem was observed in the ictal or interictal states. The present case suggests that HHs may be involved in the pathogenesis of infantile spasms, possibly with propagation of epileptic discharges from the hamartoma to the descending spinal pathway. (C) 2009 Elsevier B.V. All rights reserved.

DOI： 10.1016/j.braindev.2009.09.003

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Language：Japanese   Publisher：一般社団法人 日本小児腎臓病学会  

 Anticoagulant therapy is a very important strategy for children with nephrotic syndrome, because of their hyper-coagulated condition. For patients with steroid-resistant nephrotic syndrome who show poor response to initial steroid treatment, renal biopsy is preferably required for diagnosis and treatment. At the time of renal biopsy, however, anticoagulant therapy is usually discontinued to reduce the hemorrhagic risk for those with steroid-resistant nephrotic syndrome. In addition, it has been stated that children with steroid-resistant nephrotic syndrome have usually hypercoagulation state.<br> We here report a 6-year-old boy with steroid-resistant nephrotic syndrome who developed deep venous thrombosis (DVT) in his left subclavian vein after renal biopsy. He needed the central venous catheter, because of the difficulty of blood drawing and establishment of an intravenous line for severe edema. At renal biopsy temporal discontinuation of anticoagulant therapy resulted in the production of DVT in his left subclavian vein. We immediately started warfarin administration and checked the affected vein periodically with vein echogram. DVT gradually disappeared and blood flow was finally reconstituted two months later.<br> We can conclude that for steroid-resistant nephrotic syndrome, the usage of the anticoagulation therapy and central venous catheter should be carefully considered to prevent the deep venous thrombosis, especially at the time of renal biopsy.

DOI： 10.3165/jjpn.23.40

CiNii Books

J-GLOBAL

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Language：Japanese  

CiNii Books

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Language：English   Publisher：ELSEVIER SCIENCE INC  

This study sought to present clinical and outcome data of patients with idiopathic childhood occipital epilepsy of Gastaut, to validate previously reported characteristics of this epilepsy. The study group was comprised of 12 affected children (three boys and nine girls), with a median age of onset at 10.3 years. Common ictal manifestations included elementary visual hallucinations (75.0%), blindness or blurring of vision (50.0%), headache (50.0%), and secondarily generalized tonic-clonic seizures (58.3%). Interictal electroencephalography revealed occipital spike-wave paroxysms reactive to eye closure and opening in all patients, accompanied by spike-wave activity in the extra-occipital areas in four (33.3%), and by generalized spike-wave discharges in two (16.7%). One patient exhibited the onset of occipital lobe seizures 1 year after manifesting absence epilepsy. Seizure remission occurred in 81.8% of cases, in half of which medication was discontinued by late adolescence. This study confirmed the previously delineated electroclinical features of epilepsy syndrome, with additional aspects including the frequent association of generalized tonic-clonic seizures and atypical evolution from childhood absence epilepsy. (C) 2011 Elsevier Inc. All rights reserved.

DOI： 10.1016/j.pediatrneurol.2010.10.005

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