Brain and Development Case Reports最新文献

{"title":"A case of CLCN4-related epilepsy presenting as epilepsy of infancy with migrating focal seizures","authors":"Kenta Suzuki ,&nbsp;Yuichi Suzuki ,&nbsp;Mika Yamada ,&nbsp;Maki Nodera ,&nbsp;Fuyuki Miya ,&nbsp;Mitsuhiro Kato ,&nbsp;Mitsuaki Hosoya","doi":"10.1016/j.bdcasr.2024.100048","DOIUrl":"10.1016/j.bdcasr.2024.100048","url":null,"abstract":"<div><h3>Background</h3><div><em>CLCN4</em> pathogenic variants cause X-linked intellectual disability and epilepsy. <em>CLCN4</em>-related epilepsy presents with a variety of seizures including absence, tonic, and focal seizures, is refractory to treatments, and is complicated by severe global developmental delay. We herein report a case of epilepsy of infancy with migrating focal seizures (EIMFS) in a male infant with <em>CLCN4</em> variant.</div></div><div><h3>Case presentation</h3><div>The patient was a 3-month-old male with no abnormal perinatal history or family history of epilepsy. Initially, the patient developed convulsive seizures in both upper limbs and the left face, which were refractory to focal epilepsy treatments. Subsequently, a diagnosis of EIMFS was made because the focal sites began to shift from the left hemisphere to the right hemisphere during seizures. The seizures could not be controlled with polytherapy using antiseizure medications, but finally responded to potassium bromide. Whole exome sequencing revealed a novel de novo <em>CLCN4</em> variant, NM_001830.4:c.854A&gt;G,p.(Tyr285Cys).</div></div><div><h3>Discussion/conclusion</h3><div>To date, there have been 24 reported cases of <em>CLCN4</em>-related epilepsy in the world, with only one case of EIMFS, excluding the present case. Additionally, to the best of our knowledge, there have been no previous reports that included a detailed clinical course of a case of <em>CLCN4</em>-related epilepsy showing EIMFS. Further studies with accumulation of clinical cases are needed to understand the pathophysiology of <em>CLCN4</em>-related epilepsy, as well as to establish treatment methods.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100048"},"PeriodicalIF":0.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553878","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}

{"title":"Acute proximal weakness after cochlear implant: Riboflavin transporter deficiency onset in child","authors":"Cristina Villar-Vera ,&nbsp;Mika Aiko-Gesler ,&nbsp;Lucía Monfort Belenguer ,&nbsp;Ana Cuesta Peredo ,&nbsp;Manuel de Entrambasaguas","doi":"10.1016/j.bdcasr.2024.100045","DOIUrl":"10.1016/j.bdcasr.2024.100045","url":null,"abstract":"<div><h3>Background</h3><div>Riboflavin transporter deficiencies (RTDs) are treatable progressive neurodegenerative disorders that present with symptoms including weakness, ataxia and neurosensory hearing loss. Once converted to the flavin cofactor, riboflavin plays a pivotal role in redox metabolic reactions. Similarly to classical mitochondrial diseases, stress may act as a trigger for disease progression.</div></div><div><h3>Case presentation</h3><div>The subject is a 3-year-old girl with initially normal development who experienced language regression due to sensorineural deafness at 20 months old. One year later, the patient experienced an acute episode of asymmetric proximal weakness following cochlear implant surgery. All metabolic, immunological, and neuroimaging studies were normal. Serial electromyography studies revealed a rapidly progressive axonal sensory-motor neuropathy affecting the upper limbs. In search of treatable conditions, riboflavin was initiated, and later on, compound heterozygous pathogenic variants in SLC52A2 were identified.</div></div><div><h3>Conclusion</h3><div>This report describes the clinical and electromyography findings of this patient during the four years following diagnosis.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100045"},"PeriodicalIF":0.0,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142526798","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}

{"title":"Sibling cases of DEPDC5-related developmental and epileptic encephalopathy successfully treated with lacosamide","authors":"Chiho Tokorodani ,&nbsp;Ritsuo Nishiuchi ,&nbsp;Fuyuki Miya ,&nbsp;Katsuhiro Kobayashi ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2024.100044","DOIUrl":"10.1016/j.bdcasr.2024.100044","url":null,"abstract":"<div><h3>Background</h3><div><em>DEPDC5</em> is a causative gene for various familial focal epilepsies. We report the cases of two Japanese sisters with <em>DEPDC5</em>-related epilepsy presenting as developmental and epileptic encephalopathy (DEE) that were successfully treated with lacosamide as add-on therapy.</div></div><div><h3>Patients</h3><div>The elder sister had focal tonic seizures at 3 years 10 months old. Long-term video-electroencephalography (EEG) monitoring disclosed that she also had atypical absence seizures with asymmetric generalized slow spike-and-wave complexes, leading to a diagnosis of Lennox-Gastaut syndrome (LGS). Zonisamide, levetiracetam, and sodium valproate (VPA) failed to resolve her seizures, but subsequent lacosamide (LCM) treatment effectively stopped them. At 4 years and 6 months of age, her development was normal. Her younger sister had experienced epileptic spasms at 4 months of age. Her interictal EEG showed hypsarrhythmia, leading to a diagnosis of infantile epileptic spasms syndrome (IESS). VPA was partially effective at decreasing her epileptic spasms, and an add-on therapy of LCM finally suppressed her seizures with normalization of her EEG. At 1 year and 2 months of age, she had developed normally without seizures. The two sisters' brain MRI findings eventually became unremarkable. Trio-based whole-exome sequencing identified a heterozygous germline variant in the <em>DEPDC5</em> gene (NM_001242896: exon37: c.3751delT: p.F1251fs) in both sisters and their asymptomatic mother, illustrating the variant's incomplete penetrance.</div></div><div><h3>Conclusion</h3><div>The <em>DEPDC5</em> variant can be causative for LGS and IESS with no malformations of cortical development. LCM may be effective for drug-resistant <em>DEPDC5</em>-related DEE.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100044"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142526797","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}

{"title":"A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant","authors":"Kasumi Sasaki ,&nbsp;Mitsuko Nakashima ,&nbsp;Yuji Fujii ,&nbsp;Shinji Itamura ,&nbsp;Hirotomo Saitsu ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2024.100043","DOIUrl":"10.1016/j.bdcasr.2024.100043","url":null,"abstract":"<div><h3>Background</h3><div><em>TMEM63B</em> encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous <em>TMEM63B</em> variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a <em>TMEM63B</em> variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).</div></div><div><h3>Case presentation</h3><div>A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a <em>de novo</em> heterozygous variant of <em>TMEM63B</em> (NM_018426.3: c.130G &gt; A, p.(Val44Met)), which was classified as pathogenic.</div></div><div><h3>Discussion/Conclusion</h3><div>Although most patients with <em>TMEM63B</em> variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the <em>TMEM63B</em> variant.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100043"},"PeriodicalIF":0.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142328033","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}

{"title":"A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain","authors":"Yoshie Kurokawa ,&nbsp;Karin Kojima ,&nbsp;Tomoyuki Ishii ,&nbsp;Eriko Jimbo ,&nbsp;Hirokazu Yamagishi ,&nbsp;Akihiko Miyauchi ,&nbsp;Hiroko Wakabayashi ,&nbsp;Kazuhiro Muramatsu ,&nbsp;Hitoshi Osaka ,&nbsp;Takanori Yamagata","doi":"10.1016/j.bdcasr.2024.100042","DOIUrl":"10.1016/j.bdcasr.2024.100042","url":null,"abstract":"<div><h3>Background</h3><div><em>SCN4A</em> encodes the α-subunit of the voltage-gated sodium channel Na_V1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of <em>SCN4A</em>. <em>SCN4A</em> has been considered to be exclusively expressed in muscles, and the brain phenotype has not been reported until recently, including descriptions of essential tremor and epilepsy.</div></div><div><h3>Patient</h3><div>The patient is a 20-year-old woman with PMC by detecting a c.3917G&gt;A, p.(Gly1306Glu) variant in <em>SCN4A</em>. The patient also showed neurological symptoms, such as epilepsy, from 1 year old and intellectual disability (intelligence quotient 48).</div></div><div><h3>Mouse brain</h3><div>We confirmed the Na_V 1.4 expression in the brain of developing mice, 10 days after birth, immunohistochemically, in the entire cerebral cortex, the olfactory bulb and the midbrain but not in the hippocampus or cerebellum. However, the Na_V 1.4 expression was not detected in adult mouse cortex.</div></div><div><h3>Discussion</h3><div>Na_V1.4 was shown to be expressed in the cerebral cortex of young mice but not in adults. Since our patient had shown intellectual disability and epilepsy from infancy, Na_V1.4 was considered to be involved in the developing brain and cause central nervous system symptom in some situations.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100042"},"PeriodicalIF":0.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357595","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}

{"title":"Hemorrhagic shock and encephalopathy syndrome occurring in the setting of dual pathogenesis of cerebral cavernous malformation 1 and Houge-Janssens syndrome 2","authors":"Haruna Yoshikawa ,&nbsp;Kenichiro Hayashi ,&nbsp;Mamiko Yamada ,&nbsp;Fuyuki Miya ,&nbsp;Kenjiro Kosaki ,&nbsp;Toshiki Takenouchi","doi":"10.1016/j.bdcasr.2024.100038","DOIUrl":"10.1016/j.bdcasr.2024.100038","url":null,"abstract":"<div><h3>Background</h3><div>Hemorrhagic shock and encephalopathy syndrome is a lethal form of acute childhood encephalopathy that occurs in the setting of various neurodevelopmental conditions. In undiagnosed patients, exome sequencing identifies dual genetic diagnoses in 5% of affected individuals.</div></div><div><h3>Clinical Report</h3><div>A male infant with a family history of cavernous malformation syndrome with profound developmental delay and hypotonia was brought to our clinic. A trio-based exome analysis identified dual genetic diagnoses: cerebral cavernous malformation 1 (OMIM#<span><span>116860</span><svg><path></path></svg></span>) due to a maternally inherited heterozygous frameshift mutation in <em>KRIT1</em> and Houge-Janssens syndrome 2 (OMIM#<span><span>616362</span><svg><path></path></svg></span>) due to a de novo heterozygous mutation in <em>PPP2R1A</em>. At the age of two years, the child developed hemorrhagic shock and encephalopathy syndrome and died.</div></div><div><h3>Discussion</h3><div>The dual genetic diagnoses well explained the patient's overall clinical and neuroradiographic phenotype. The differential risk of recurrence of two independent disorders was informative from a genetic counseling standpoint. Known underlying neurological comorbidities in cases developing hemorrhagic shock and encephalopathy syndrome do not appear to have a shared molecular mechanism, but perhaps have perturbations in the basal neuronal activity, predisposing to acute lethal encephalopathy.</div></div><div><h3>Conclusion</h3><div>A thorough genetic investigation to search for multiple genetic causes to fully explain a patient's overall phenotype is critical. Multiplicity of the underlying genetic conditions may increase the risk of development of acute childhood encephalopathy.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100038"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000345/pdfft?md5=d203e515451163ff7a3d57c63a15abf3&pid=1-s2.0-S2950221724000345-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142311042","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}

{"title":"A female patient with paramyotonia congenita. Part 1: Combination therapy of lacosamide and topiramate","authors":"Yoshie Kurokawa ,&nbsp;Karin Kojima ,&nbsp;Tomoyuki Ishii ,&nbsp;Eriko Jimbo ,&nbsp;Hirokazu Yamagishi ,&nbsp;Akihiko Miyauchi ,&nbsp;Hiroko Wakabayashi ,&nbsp;Kazuhiro Muramatsu ,&nbsp;Hitoshi Osaka ,&nbsp;Takanori Yamagata","doi":"10.1016/j.bdcasr.2024.100041","DOIUrl":"10.1016/j.bdcasr.2024.100041","url":null,"abstract":"<div><h3>Background</h3><div>Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of <em>SCN4A</em>. <em>SCN4A</em> encodes the α-subunit of the voltage-gated sodium channel Na_V1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Despite some reduction of myotonia by sodium channel blockers, a more effective treatment is still being sought. We herein report a patient whose myotonia was ameliorated by combination therapy with topiramate, mexiletine and lacosamide.</div></div><div><h3>Patient</h3><div>The patient was a 20-year-old woman. A few days after birth, laryngospasm and cyanosis had appeared repeatedly on crying, gradually followed by local myotonia in various parts of the body. Exposure to both hot and cold, exercise, and mental stress induced myotonia in her fingers, orbicularis oculi, neck, trunk, and limbs, lasting for several minutes to hours, several times a day. We diagnosed her with PMC by detecting a c.3917G &gt; A, p.(Gly1306Glu) variant in <em>SCN4A.</em> She also had epilepsy with tonic-clonic seizure since 1 year old. Combination therapy of topiramate and lacosamide in addition to mexiletine reduced the myotonia markedly.</div></div><div><h3>Discussion</h3><div>A sodium channel blocker, the combination of fast inactivation by topiramate and mexiletine, and slow inactivation by lacosamide may be effective in reducing myotonia in PMC. The further accumulation of data concerning this treatment is required.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100041"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000370/pdfft?md5=7158e566f41a2f8e280c0cce0c476595&pid=1-s2.0-S2950221724000370-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142311043","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}

{"title":"Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome","authors":"Tatsuya Fukasawa ,&nbsp;Tetsuo Kubota ,&nbsp;Toshiki Takeo ,&nbsp;Takeshi Suzuki ,&nbsp;Hiroyuki Kidokoro ,&nbsp;Tamiko Negoro ,&nbsp;Kei Murayama ,&nbsp;Akira Ohtake ,&nbsp;Jun Natsume","doi":"10.1016/j.bdcasr.2024.100040","DOIUrl":"10.1016/j.bdcasr.2024.100040","url":null,"abstract":"<div><p>Background: The majority of Leigh syndrome cases exhibit fulminant clinical courses, and magnetic resonance imaging (MRI) typically reveals evolutionary changes. We present a case of Leigh syndrome in which MRI of the brain revealed extensive changes along with the development of posterior reversible encephalopathy syndrome (PRES).</p><p>Patient: An 8-year-old Japanese girl presented with gait disturbance. MRI revealed high-intensity areas in the bilateral basal ganglia and the ventral midbrain in T2-weighted images (T2WIs) and fluid attenuated inversion recovery (FLAIR). We identified the mitochondrial DNA homozygous mutation 9176 T &gt; C. The patient gradually recovered. One month after symptom onset, she developed respiratory and circulatory failure accompanied by lactic acidosis and disturbances of consciousness. A repeat MRI did not reveal any new lesions. Subsequently, 1 month later, she presented with disturbances of consciousness, headache, and vision disturbances. Her blood pressure was 210/140 mmHg; MRI revealed many spotty high-intensity areas, predominantly located in the parietal and occipital lobes in T2WIs and FLAIR. She was treated with hypotensive drugs and gradually recovered with improved MRI findings. This episode was diagnosed as PRES.</p><p>Conclusion: This case revealed extensive changes in MRI findings of the brain, as well as disturbances of consciousness due to respiratory and circulatory failure and PRES. Sequential brain MRI is useful for the evaluation of patients with Leigh syndrome and for the detection of unexpected complications, such as PRES.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100040"},"PeriodicalIF":0.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000369/pdfft?md5=a91eabdb445cbf7572b141218d7d13d7&pid=1-s2.0-S2950221724000369-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142229385","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}

{"title":"Frequent breath-hold while awakening in SATB1 missense variant: A case report","authors":"Yu Aihara ,&nbsp;Takashi Saito ,&nbsp;Yuta Suenaga ,&nbsp;Kaori Miyana ,&nbsp;Toshiyuki Itai ,&nbsp;Satoko Miyatake ,&nbsp;Kaoru Yamamoto ,&nbsp;Noriko Sumitomo ,&nbsp;Shimpei Baba ,&nbsp;Eri Takeshita ,&nbsp;Yuko Shimizu-Motohashi ,&nbsp;Yuji Takahashi ,&nbsp;Hidehiro Mizusawa ,&nbsp;Naomichi Matsumoto ,&nbsp;Masayuki Sasaki","doi":"10.1016/j.bdcasr.2024.100036","DOIUrl":"10.1016/j.bdcasr.2024.100036","url":null,"abstract":"<div><p><em>Introduction: SATB1</em> encodes a protein of the same name, and its genetic alteration causes SATB1 (special AT-rich sequence-binding protein 1) dysfunction, which clinically presents as developmental delay, intellectual disability, facial features, and epilepsy. However, detailed clinical information, especially regarding respiratory disorders, has not yet been fully described.</p><p><em>Case Presentation:</em> We report the case of a 3-year-old Japanese girl with a <em>de novo</em> variant of <em>SATB1</em>, c.1588G &gt; A:p.(Glu530Lys), who presented with a frequent breath-holding and hyperventilation while awake, in addition to typical phenotype. The long-term EEG showed no corresponding epileptiform changes, and breath-holding was considered non-epileptic rather than epilepsy, such as ictal central apneas. Valproic acid and acetazolamide alleviated breath-holding; however, it was intractable.</p><p><em>Conclusion:</em> Respiratory disorders were thought to be non-epileptic, not reported in <em>SATB1</em> disorders, and were resistant to treatment. The case was considered critical and may provide new research clues to this severe and not yet fully understood phenomenon.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100036"},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000321/pdfft?md5=7b06a36254beacba17e0007f42f80e1b&pid=1-s2.0-S2950221724000321-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172882","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}

{"title":"Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature","authors":"Kai Ma ,&nbsp;Yi Lu ,&nbsp;Dong Wang ,&nbsp;Xiao Han ,&nbsp;Lei Liang ,&nbsp;Yuanyuan Zhang","doi":"10.1016/j.bdcasr.2024.100039","DOIUrl":"10.1016/j.bdcasr.2024.100039","url":null,"abstract":"<div><h3>Background</h3><p>There is a risk of secondary communicating hydrocephalus in patients with 5q spinal muscular atrophy (SMA) treated with intrathecal nusinersen. The benefits and risks of intrathecal nusinersen treatment in SMA type 3 patients with ventriculoperitoneal shunt (VPS) due to hydrocephalus are unknown.</p></div><div><h3>Case report</h3><p>A female patient was diagnosed with hydrocephalus at 6 months owing to a progressive increase in head circumference and underwent VPS treatment at 7 months. Motor function development was delayed, and she was diagnosed with SMA type 3 at 41 months. Intrathecal nusinersen treatment was initiated when the patient was 51 months old. The results of the motor function rating scales showed significant improvement after 28 months of follow-up, and a CT scan of the head showed relief of the hydrocephalus. Serious adverse reactions were not observed.</p></div><div><h3>Conclusion</h3><p>Intrathecal nusinersen treatment is effective and safe after VPS surgery in SMA type 3 patients. Hydrocephalus is not a contraindication for intrathecal nusinersen treatment in SMA patients.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100039"},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000357/pdfft?md5=a43000bcbdca06f80a06e7fc3860978e&pid=1-s2.0-S2950221724000357-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172841","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}