Pub Date : 2024-01-08DOI: 10.1016/j.bdcasr.2023.100004
Sachiko Onoe, Satoko Koga, Kana Ushio, Kazumi Hajime, Michiko Shinpo
Background
Gabapentin-related dystonia is rare, occurring mainly at high doses. We herein report a rare case of dystonia induced by low-dose gabapentin.
Case presentation
A severely disabled patient was treated for epilepsy with valproate, lamotrigine, and phenytoin. He developed myocarditis at 25 years old, and severe bradycardia was noted 4 years later. Phenytoin was discontinued as it causes bradycardia, which subsequently resolved, and zonisamide was introduced. Seven months later, the patient developed orolingual dyskinesia. Zonisamide was gradually discontinued, and the dyskinesia subsided. He was prescribed gabapentin 100 mg 3 times daily. After 14 months of gabapentin treatment, the patient developed repetitive rotational movements in the torso and right arm. The patient also exhibited laryngeal dystonia and Pisa syndrome. After discontinuation of gabapentin, the movement disorders resolved.
Conclusions
In this case, low-dose gabapentin prescription led to dystonia in various parts of the body, including the larynx, as a life-threatening complication. When patients with epilepsy exhibit involuntary movements, the adverse effects of anti-seizure medications should be considered.
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Pub Date : 2023-12-01DOI: 10.1016/j.bdcasr.2023.100001
Shinji Saitoh MD, PhD (Editor-in-Chief, Brain and Development Case Reports)
{"title":"Brain and Development Case Reports: A new open forum for child neurology","authors":"Shinji Saitoh MD, PhD (Editor-in-Chief, Brain and Development Case Reports)","doi":"10.1016/j.bdcasr.2023.100001","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100001","url":null,"abstract":"","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"1 1","pages":"Article 100001"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221723000016/pdfft?md5=193118eeca17ae7b641e2e0bf925a888&pid=1-s2.0-S2950221723000016-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138739410","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}
Spinal muscular atrophy (SMA) is a lower motor neuron disease caused by Survival of Motor Neuron 1 gene (SMN1) 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 SMN2 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.
Case presentation
Here, we report an adult patient with SMA type II. The patient was treated with valproic acid (VPA, a histone deacetylase inhibitor) and an SMN2 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.
Conclusion
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.
背景脊髓性肌萎缩症（SMA）是一种下运动神经元疾病，由运动神经元生存1基因（SMN1）缺失或其他突变引起。SMA 的特征是运动和呼吸功能逐渐退化。据报道，提高基因产物（SMN 蛋白）水平的新药，如 nusinersen、onasemnogene abeparvovec 和 risdiplam，可改善 SMA 婴儿的症状和预后。其中，nusinersen 和 risdiplam 是 SMN2 剪接调节剂，适用于所有年龄段的患者。然而，这些药物对年长儿童和成人 SMA 患者的疗效有限。在此，我们报告了一名患有 SMA II 型的成人患者。该患者接受了丙戊酸（VPA，一种组蛋白去乙酰化酶抑制剂）和SMN2剪接修饰剂risdiplam的治疗。在长达两年多的时间里，患者接受了丙戊酸和利地普仑的联合治疗，临床病程平稳，未因肺炎等急性病住院治疗。此外，在此期间，患者上肢的运动功能也有所改善。因此，由不同作用机制的药物组成的联合疗法对成人 SMA 可能有效。
{"title":"Combined therapy of valproic acid and an SMN2 splicing modifier for an adult patient with SMA type II","authors":"Keiko Koterazawa , Shinji Kitayama , 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}
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder mostly caused by a genetic defect in PHOX2B. 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).
Case presentation
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.
Discussion/Conclusion
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.
{"title":"Coexistence of congenital central hypoventilation syndrome, Hirschsprung disease, and Becker muscular dystrophy","authors":"Yuki Kawashima , Satoka Akiyama , Yosuke Yamada , Masahiro Noda , Kunihiro Oba , Hirofumi Komaki , Koji Komori , Ayako Sasaki , 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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