Brain and Development Case Reports最新文献

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Tardive dystonia induced by low-dose gabapentin in a severely disabled patient with epilepsy 小剂量加巴喷丁在一名严重残疾的癫痫患者身上诱发的迟发性肌张力障碍
Brain and Development Case Reports Pub Date : 2024-01-08 DOI: 10.1016/j.bdcasr.2023.100004
Sachiko Onoe, Satoko Koga, Kana Ushio, Kazumi Hajime, Michiko Shinpo
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引用次数: 0
Brain and Development Case Reports: A new open forum for child neurology 脑与发育病例报告:儿童神经学的新开放论坛
Brain and Development Case Reports Pub Date : 2023-12-01 DOI: 10.1016/j.bdcasr.2023.100001
Shinji Saitoh MD, PhD (Editor-in-Chief, Brain and Development Case Reports)
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引用次数: 0
Combined therapy of valproic acid and an SMN2 splicing modifier for an adult patient with SMA type II 丙戊酸和 SMN2 剪接修饰剂联合治疗一名 II 型 SMA 成年患者
Brain and Development Case Reports Pub Date : 2023-12-01 DOI: 10.1016/j.bdcasr.2023.100002
Keiko Koterazawa , Shinji Kitayama , Hisahide Nishio
{"title":"Combined therapy of valproic acid and an SMN2 splicing modifier for an adult patient with SMA type II","authors":"Keiko Koterazawa ,&nbsp;Shinji Kitayama ,&nbsp;Hisahide Nishio","doi":"10.1016/j.bdcasr.2023.100002","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100002","url":null,"abstract":"<div><h3>Background</h3><p>Spinal muscular atrophy (SMA) is a lower motor neuron disease caused by <em>Survival of Motor Neuron 1</em> gene (<em>SMN1</em>) deletions or other mutations. SMA is characterized by the progressive deterioration of motor and respiratory functions. New drugs that increase the gene product (SMN protein) levels, such as nusinersen, onasemnogene abeparvovec, and risdiplam, have been reported to ameliorate the symptoms and improve the prognosis of infants with SMA. Among these, nusinersen and risdiplam are <em>SMN2</em> splicing modifiers suitable for patients of all ages. However, these drugs have limited efficacy in older children and adults with SMA. Therefore, there is a need for more effective therapies for these patients.</p></div><div><h3>Case presentation</h3><p>Here, we report an adult patient with SMA type II. The patient was treated with valproic acid (VPA, a histone deacetylase inhibitor) and an <em>SMN2</em> splicing modifier, risdiplam. With the combined therapy of VPA and risdiplam over a period of more than 2 years, the patient’s clinical course was uneventful, without requiring hospitalization for acute illness such as pneumonia. In addition, motor function in the upper extremities improved during this period.</p></div><div><h3>Conclusion</h3><p>Combined treatment with VPA and risdiplam resulted in a stable disease course in our adult SMA patient. Thus, combined therapy consisting of drugs with different mechanisms of action might be effective for adult SMA.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"1 1","pages":"Article 100002"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221723000028/pdfft?md5=6dd3f273c1043df50f2b2d8c14c5c6a4&pid=1-s2.0-S2950221723000028-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138769619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Coexistence of congenital central hypoventilation syndrome, Hirschsprung disease, and Becker muscular dystrophy 先天性中枢通气不足综合征、赫氏病和贝克尔肌肉萎缩症同时存在
Brain and Development Case Reports Pub Date : 2023-12-01 DOI: 10.1016/j.bdcasr.2023.100003
Yuki Kawashima , Satoka Akiyama , Yosuke Yamada , Masahiro Noda , Kunihiro Oba , Hirofumi Komaki , Koji Komori , Ayako Sasaki , Masashi Ogasawara
{"title":"Coexistence of congenital central hypoventilation syndrome, Hirschsprung disease, and Becker muscular dystrophy","authors":"Yuki Kawashima ,&nbsp;Satoka Akiyama ,&nbsp;Yosuke Yamada ,&nbsp;Masahiro Noda ,&nbsp;Kunihiro Oba ,&nbsp;Hirofumi Komaki ,&nbsp;Koji Komori ,&nbsp;Ayako Sasaki ,&nbsp;Masashi Ogasawara","doi":"10.1016/j.bdcasr.2023.100003","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100003","url":null,"abstract":"<div><h3>Background</h3><p>Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder mostly caused by a genetic defect in <em>PHOX2B.</em> We describe for the first time a case of a male patient with the coexistence of CCHS, Hirschsprung disease (HSCR), and Becker muscular dystrophy (BMD).</p></div><div><h3>Case presentation</h3><p>The patient presented with hypoventilation and required ventilatory support during the neonatal period. The diagnosis of CCHS was suspected and confirmed by molecular analysis of the PHOX2B gene, revealing a de novo heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). The patient had tracheostomy at 1 month. He also developed abdominal distention. Contrast enema confirmed the diagnosis of HSCR. Transanal decompression tube was indwelled at 2 months and definitive repair was performed at 14 months. During follow-up, he was found to have elevated creatine kinase levels. The dystrophin gene was screened for deletions by Multiplex ligation-dependent probe amplification (MLPA) and the deletion of exons 45–55 of the DMD gene was detected, leading to the diagnosis of BMD. At 7 years of age, he remains on continuous ventilatory support during sleep. He has difficulty playing sports and myalgia, which could be the symptoms due to BMD. So far, he has not exhibited cardiac abnormalities; his Full-Scale Intelligence Quotient score is within the normal range.</p></div><div><h3>Discussion/Conclusion</h3><p>This case illustrates the importance of recognizing the coexistence of two different monogenic disorders in a single patient and the necessity of appropriate management in patients with CCHS, HSCR, and BMD.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"1 1","pages":"Article 100003"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295022172300003X/pdfft?md5=f30ec856b1f1d2865a5f36cea674335c&pid=1-s2.0-S295022172300003X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138769620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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