Brain and Development Case Reports最新文献

{"title":"A case of Poirier-Bienvenu neurodevelopmental syndrome with non-epileptic seizures, phonophobia, and autism spectrum disorder","authors":"Mako Miwa ,&nbsp;Mina Yokoyama ,&nbsp;Rintaro Ono ,&nbsp;Miwa Ozawa ,&nbsp;Masaaki Ogihara ,&nbsp;Kenjiro Kosaki","doi":"10.1016/j.bdcasr.2025.100080","DOIUrl":"10.1016/j.bdcasr.2025.100080","url":null,"abstract":"<div><h3>Background</h3><div>Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is caused by mutations in <em>CSNK2B</em> and is characterized by intellectual disability (ID) and early-onset epilepsy.</div></div><div><h3>Case</h3><div>The patient was delivered at term with no perinatal complications. Although early development was typical, delayed walking prompted a referral. Various screening tests identified no physical or laboratory abnormalities, except for traits of autism spectrum disorder (ASD). At approximately three years of age, the patient began experiencing recurrent episodes of unresponsiveness, characterized by a vacant stare. Ictal electroencephalography (EEG) revealed right temporal spike waves spreading bilaterally, leading to a diagnosis of focal onset epileptic seizures. During the same period, paroxysmal twitch-like and gross-like movements were observed. These movements occurred without epileptic discharges, leading to a diagnosis of non-epileptic seizures (NES). The patient was diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.</div><div>Subsequently, it was noted that the patient exhibited twitch-like and gross-like movements with fearful facial expressions when watching specific television programs, accompanied by phonophobia. These episodes were considered psychogenic NES (PNES), likely attributable to auditory hypersensitivity associated with ASD. The NES episodes resolved with avoidance of these television programs. At nine years of age, next-generation sequencing identified a heterozygous <em>CSNK2B</em> mutation, confirming the diagnosis of POBINDS. Focal onset epileptic seizures were well controlled with valproic acid and clobazam.</div></div><div><h3>Discussion</h3><div>This case highlights a patient with POBINDS presenting with ASD and NES due to sound hypersensitivity. The coexistence of epileptic seizures and NES in individuals with POBINDS warrants further investigation.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100080"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical gradual progression in rapid-onset dystonia-parkinsonism with a rare ATP1A3 variant and the long-term effectiveness of botulinum toxin therapy","authors":"Kazuma Shinno ,&nbsp;Masaya Kubota ,&nbsp;Rika Kosaki ,&nbsp;Kenjiro Kosaki ,&nbsp;Akira Ishiguro","doi":"10.1016/j.bdcasr.2025.100092","DOIUrl":"10.1016/j.bdcasr.2025.100092","url":null,"abstract":"<div><h3>Background</h3><div>Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal-dominant disorder caused by <em>ATP1A3</em> variants. It is characterized by abrupt-onset asymmetrical dystonia, parkinsonism, and bulbar symptoms. Most cases present with sudden onset; however, atypical presentations with gradual onset have been rarely documented. In this report, we discuss the pathogenesis in a 28-year-old male patient with a rare <em>ATP1A3</em> variant and atypical RDP manifestation.</div></div><div><h3>Case report</h3><div>A right-handed male patient developed handwriting difficulty and right-sided facial myoclonus at age 13, progressing to gradual dystonia predominantly affecting the right extremities. Neurological examinations at age 14 revealed right-sided dystonia, facial myoclonus, and bulbar symptoms without tremors or diurnal fluctuations. Brain MRI was normal, whereas single photon emission computed tomography (SPECT) showed hypoperfusion in the left basal ganglia associated with right-sided dystonia. Transcranial magnetic stimulation (TMS) clarified that the silent period, mediated by the gamma-aminobutyric acid (GABA)-B system, was normal. Genetic analysis identified a rare <em>ATP1A3</em> variant (NM_152296.5):c.2438C&gt;T,p.(Ala813Val) and confirmed it as <em>de novo</em>. Although oral medications, including levodopa, were ineffective, botulinum toxin (BT) therapy stabilized his dystonic symptoms for 13 years.</div></div><div><h3>Discussion</h3><div>This case highlights an atypical RDP presentation with gradual onset and minimal parkinsonism. Considering the results of SPECT and TMS, and the ineffectiveness of levodopa, one of the responsible lesions in this patient may be in the striatal output pathway rather than the dopaminergic system. The long-term effectiveness of BT therapy underscores its potential in managing dystonia in RDP.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100092"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144580744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “Dihydropteridine reductase deficiency: The first Moroccan case report” [Brain Dev. Case Rep. 2(2) (2024) 100008]","authors":"Kaoutar Khabbache ,&nbsp;Afaf Lamzouri ,&nbsp;Hanaa Imlahi ,&nbsp;Abdallah Oulmaati","doi":"10.1016/j.bdcasr.2025.100088","DOIUrl":"10.1016/j.bdcasr.2025.100088","url":null,"abstract":"","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100088"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144290806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of Duchenne muscular dystrophy who received a short course of exon-skipping therapy 20 years ago has maintained good cardiac function","authors":"Yuka Ishikawa ,&nbsp;Toshihiko Miura ,&nbsp;Yoshinori Nambu ,&nbsp;Hiroyuki Awano ,&nbsp;Yasuhiro Takeshima ,&nbsp;Yukitoshi Ishikawa ,&nbsp;Masafumi Matsuo","doi":"10.1016/j.bdcasr.2025.100102","DOIUrl":"10.1016/j.bdcasr.2025.100102","url":null,"abstract":"<div><h3>Background</h3><div>Duchenne muscular dystrophy (DMD) is a fatal, progressive muscle atrophy and most patients die before the age of 30 from complications of heart failure. We treated a DMD patient (Patient 0) with exon-skipping therapy using antisense oligonucleotides (ASO) for about one year 20 years ago. In this study, Patient 0 was re-evaluated based on hospital medical records using seven DMD patients of the same generation as controls</div></div><div><h3>Case presentation</h3><div>Patient 0 was one of the youngest of the eight patients in terms of age at loss of ambulation, indicating that his disease progression was rapid prior to the start of the treatment. However, his age at the start of 24-h ventilator use was the second oldest of the eight patients, indicating slow disease progression after the end of the treatment. Patient 0, now 31 years old, had normal level of serum N-terminal pro-B-type natriuretic peptide, a marker of myocardial damage, and no heart failure level of left ventricular ejection fraction in cardiac function. Patient 0 was the only patient of his generation who did not have heart failure.</div></div><div><h3>Discussion/conclusion</h3><div>These results suggest that short-term ASO treatment may be effective in preserving respiratory and cardiac function. However, these results were obtained in only one case, and need to be reconfirmed by accumulating long-term follow-up cases of ASO-treated patients in the future.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100102"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morphological erythrocyte abnormalities as potential biomarker of uridine-responsive epileptic encephalopathy","authors":"Kazuhiro Shiraishi ,&nbsp;Rie S. Tsuburaya ,&nbsp;Shoichi Mukaida ,&nbsp;Seiko Itomi ,&nbsp;Satoshi Kajimoto ,&nbsp;Naoko Yano ,&nbsp;Takeshi Yoshida","doi":"10.1016/j.bdcasr.2025.100081","DOIUrl":"10.1016/j.bdcasr.2025.100081","url":null,"abstract":"<div><h3>Background</h3><div>Uridine-responsive epileptic encephalopathy (developmental and epileptic encephalopathy-50: DEE-50) is a recently identified disorder caused by <em>CAD</em> gene variants. Although patients can be treated with oral uridine, early diagnosis remains challenging due to its diverse and non-specific clinical manifestations; therefore, biomarkers for early detection are awaited. We report a patient with DEE-50 presenting with progressive myoclonus epilepsy (PME) at age 12, in whom morphological abnormalities of erythrocytes, anisocytosis and poikilocytosis, were observed from an early stage despite normal hemoglobin levels.</div></div><div><h3>Case presentation</h3><div>The patient was a female in her 30s. At age 12, generalized tonic-clonic seizures repeatedly occurred. Examination revealed tremor, myoclonus, and ataxic gait. During the course, electroencephalography showed generalized polyspike discharges, leading to a diagnosis of PME. At the age of 14 years, she developed frequent seizures progressing to status epilepticus and became bedridden within two months. Despite a differential diagnosis, a definitive diagnosis could not be reached until age 30, when whole-exome sequencing revealed biallelic variants in the <em>CAD</em> gene, confirming DEE-50.</div></div><div><h3>Discussion/conclusion</h3><div>In this patient, structural abnormalities of erythrocytes were noted from an early stage without anemia. These abnormalities may serve as a potential biomarker for DEE-50.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100081"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital muscular dystrophy due to fukutin mutations without ocular symptoms and central nervous system disorders: A case report","authors":"Hiroko Oiwa ,&nbsp;Keiko Ishigaki ,&nbsp;Yoshihiko Saito ,&nbsp;Yasushi Oya ,&nbsp;Ichizo Nishino ,&nbsp;Yuji Takahashi","doi":"10.1016/j.bdcasr.2025.100095","DOIUrl":"10.1016/j.bdcasr.2025.100095","url":null,"abstract":"<div><h3>Case presentation</h3><div>We report a 22-year-old Japanese man with severe congenital muscular dystrophy without intellectual disability due to a 3-kb retrotransposal insertion and point mutation in the fukutin gene (<em>FKTN</em>), classified as congenital muscular dystrophy-dystroglycanopathy without mental retardation (type B4; MDDGB4; OMIM <span><span>613152</span><svg><path></path></svg></span>). The onset was in infancy, and while he eventually lost his ambulation, he had no intellectual disability.</div></div><div><h3>Discussion</h3><div>We believe that this patient had the most severe MDDGB4 phenotype not only among surviving patients with <em>FKTN</em> mutations but also among surviving patients with mutations in other α-dystroglycanopathy-related genes.</div></div><div><h3>Conclusion</h3><div>The phenotypes associated with <em>FKTN</em> mutations are not limited to FCMD, ranging from severe to mild in manifestation.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100095"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prolonged head banging improved by adenoidectomy in a 6-year-old girl","authors":"Yuki Inami ,&nbsp;Katsunori Fujii ,&nbsp;Hiroko Tada","doi":"10.1016/j.bdcasr.2025.100091","DOIUrl":"10.1016/j.bdcasr.2025.100091","url":null,"abstract":"<div><h3>Background</h3><div>Head banging is a sleep-related rhythmic movement disorder in children, characterized by sudden banging of the head on the crib headboard or side railing during sleep. It usually improves before 4 years of age, but may persist into adolescence owing to specific etiologies.</div></div><div><h3>Case report</h3><div>We describe the case of a 6-year-old Japanese girl who had exhibited prolonged head banging since the age of 6 months. As polysomnography revealed obstructive sleep apnea at age 6, adenoidectomy was performed to resolve her sleep disturbances. The head banging decreased dramatically after the adenoidectomy and was associated with reduced periodic limb movements, and increased long sleep fragmentation.</div></div><div><h3>Discussion</h3><div>Head banging is a subtype of sleep-related rhythmic movement disorder, which mainly affects infants and children. Sleep apnea reportedly causes sleep-related rhythmic movement disorders in adults; however, there have been only one report in children with head banging. We demonstrated that prolonged head banging was dramatically reduced by adenoidectomy, suggesting that obstructive sleep apnea could exacerbate head banging during childhood.</div></div><div><h3>Conclusion</h3><div>Head banging in children over 5 years of age has diverse etiologies. Obstructive sleep apnea could be considered one of the few possible causes of prolonged head banging.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100091"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144523701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paroxysmal dyskinesia on awakening: A new familial form of non- kinesigenic dyskinesia","authors":"Natan Gadoth","doi":"10.1016/j.bdcasr.2025.100101","DOIUrl":"10.1016/j.bdcasr.2025.100101","url":null,"abstract":"<div><h3>Background</h3><div>The sleep-to-wake and wake –to –sleep transitions known also as post and pre- <em>dormitum</em> are short events resulting from fine activation and deactivation of brain-stem and forebrain modulatory systems. Although sleep related movement disorders (SRMD) were recognized as a new category of sleep disorders since the 2nd version of the International Classification of Sleep Disorders, (ICSD-2), the mentioned list of those disorders did not include movement disorders occurring just before falling asleep or on awakening. Moreover, in a review of sleep-to-wake transitional movement disorders, only propriospinal myoclonus was mention as occurring during awakening.</div></div><div><h3>Case presentation</h3><div>we describe a brother and sister with chronic short events of dyskinesia occurring exclusively on awakening from nocturnal as well as daytime sleep, without evidence of additional neurological or medical abnormalities. Both siblings showed a prompt response to low dose of clonazepam (clonex^R), with long term and complete remission and without ill side effects. The clinical characteristics of this particular movement disorder are unique. A short video clip of the brother is included.</div></div><div><h3>Conclusion</h3><div>Our patients suffer from paroxysmal non-kinesigenic dyskinesia. The relation to sleep suggests that the disorder in our patients represents a new and unique form of familial paroxysmal hypnogenic dyskinesia responsive to clonazepam.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100101"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144861218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: ZNF526-related Dentici-Novelli neurodevelopmental syndrome in two sibling","authors":"Yanhong Zhu ,&nbsp;Xu Cao ,&nbsp;Hui Yan ,&nbsp;Yanping Fan ,&nbsp;Weidong Zhao ,&nbsp;Yujun Zhan ,&nbsp;Hongli Zeng ,&nbsp;Chaoyang Zhou ,&nbsp;Zhenjie Chen ,&nbsp;Li Yu ,&nbsp;Jianguo Cao","doi":"10.1016/j.bdcasr.2025.100096","DOIUrl":"10.1016/j.bdcasr.2025.100096","url":null,"abstract":"<div><div>Background: <em>ZNF526</em> has been recently identified as a gene associated with Dentici-Novelli neurodevelopmental syndrome (DENNED), an autosomal recessive disorder characterized by global developmental delay, microcephaly, cataracts, and epilepsy. It very rarely happens in the East Asian population with only 3 cases currently.</div><div>Case presentation: In this case report, we present two sibling patients from China with a novel compound heterozygous variant (c.1512_1513del and c.1501C&gt;A) in the <em>ZNF526</em> gene (NM_133444.3), expanding the phenotypic and geographic spectrum of DENNED. One patient's cranial MRI revealed widening of the extracerebral space in the bilateral frontotemporal region, abnormal EEG patterns, slow awake background activity, poor sleep background, and indistinguishable sleep cycles, which was never reported before. Our report also marks the first documentation of DENNED with this new <em>ZNF526</em> heterozygous variant around the world.</div><div>Discussion: With our case, we discuss all published 9 cases of <em>ZNF526</em> variants so far to enhance understanding of this rare disease and its clinical manifestations. We find that the reported DENNED in East Asia has some differences to cases in Europe and Middle East and there are some correlations between genetic variants and clinical manifestations.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100096"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144614460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful treatment of infantile epileptic spasms syndrome caused by congenital toxoplasmosis with adrenocorticotropic hormone therapy: A case report","authors":"Kentaro Sano ,&nbsp;Taku Omata ,&nbsp;Yusuke Sasaki ,&nbsp;Kenta Ochiai ,&nbsp;Megumi Shiota ,&nbsp;Shoko Hirose ,&nbsp;Yuri Shirato ,&nbsp;Naoko Maura ,&nbsp;Takashi Kigawa ,&nbsp;Ryota Hase ,&nbsp;Hisashi Nagase ,&nbsp;Masaya Takamoto ,&nbsp;Kazumi Norose ,&nbsp;Jun-ichi Takanashi","doi":"10.1016/j.bdcasr.2025.100085","DOIUrl":"10.1016/j.bdcasr.2025.100085","url":null,"abstract":"<div><h3>Background</h3><div>Congenital toxoplasmosis is a rare cause of infantile epileptic spasm syndrome (IESS). Adrenocorticotropic hormone (ACTH) therapy, the first-line treatment for IESS, has the side effect of immunosuppression and may reactivate toxoplasmosis. However, no cases of IESS caused by congenital toxoplasmosis treated with ACTH therapy have been reported.</div></div><div><h3>Case presentation</h3><div>A 5-month-old Japanese infant presented with epileptic spasms and developmental regression despite partial treatment for toxoplasmosis during fetal life. Brain imaging revealed scattered calcification and polymicrogyria. The serum anti-<em>Toxoplasma gondii</em> IgG level was high. An electroencephalogram showed hypsarrhythmia. ACTH therapy combined with pyrimethamine, sulfadiazine, and folinic acid improved her development and hypsarrhythmia.</div></div><div><h3>Conclusion</h3><div>IESS caused by congenital toxoplasmosis can be treated without reactivation using ACTH therapy with antiprotozoal drugs.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100085"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144255268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}