Brain and Development Case Reports最新文献

{"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":"2025-07-02","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":"Resolution of extensive Mongolian spots (dermal melanocytosis) in a patient with mucopolysaccharidosis type II undergoing enzyme replacement therapy with pabinafusp alfa: A case report","authors":"Tomomi Nakamura ,&nbsp;Takahiro Yonekawa ,&nbsp;Motomichi Kosuga ,&nbsp;Minehiro Kurai ,&nbsp;Hiroyuki Sakatoku ,&nbsp;Tatsuyoshi Yamamoto ,&nbsp;Pascal Yoshida ,&nbsp;Yuji Sato ,&nbsp;Takahiro Ito ,&nbsp;Mari Morimoto ,&nbsp;Ryo Hanaki ,&nbsp;Hidemi Toyoda ,&nbsp;Masahiro Hirayama","doi":"10.1016/j.bdcasr.2025.100089","DOIUrl":"10.1016/j.bdcasr.2025.100089","url":null,"abstract":"<div><h3>Background</h3><div>Mucopolysaccharidosis type II (MPS II; Hunter syndrome), an X-linked recessive lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase, leads to systemic accumulations of glycosaminoglycans that affect multiple organs. It also has several distinctive cutaneous manifestations, in particular extensive Mongolian spots (dermal melanocytosis), which are often the earliest signs of the disease. The Mongolian spots in patients with MPS II are known to persist for much longer than they do in healthy children, and they are nonresponsive to hematopoietic stem cell transplantation or enzyme replacement therapy with idursulfase.</div></div><div><h3>Case presentation</h3><div>We report a case of extensive Mongolian spots extending upwards from the buttocks and on the abdomen in a Japanese boy who was diagnosed with neuronopathic MPS II at 15 months of age, whereupon treatment was started with weekly intravenous administration of pabinafusp alfa. After over 2 years of treatment, his neurocognitive development was maintained, and he showed no apparent somatic manifestations (e.g. hepatosplenomegaly, valvular dysfunctions or hearing loss), suggesting that pabinafusp alfa is effective in addressing both the neuronopathic and somatic symptoms of MPS II. Notably, the extensive Mongolian spots covering the patient's sacral and extrasacral regions resolved markedly in terms of both size and colour.</div></div><div><h3>Discussion</h3><div>This is the first report of improvements in MPS II-associated extensive Mongolian spots brought about by enzyme replacement therapy. Further study of MPS II-related skin lesions and their clinical course is required to elucidate the dermatological pathology of a disease that has hitherto been nonresponsive to conventional therapies.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100089"},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144338548","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 pediatric case of clinically isolated syndrome presenting with one-and-a-half syndrome","authors":"Shonosuke Tagashira ,&nbsp;Nobuko Katayama ,&nbsp;Ai Kato ,&nbsp;Yoichiro Oda","doi":"10.1016/j.bdcasr.2025.100090","DOIUrl":"10.1016/j.bdcasr.2025.100090","url":null,"abstract":"<div><h3>Background</h3><div>One-and-a-half (OAAH) syndrome is defined as complete horizontal gaze palsy in one eye and medial gaze palsy in the other, while binocular convergence remains intact. This syndrome arises from concurrent damage to the unilateral medial longitudinal fasciculus and either the paramedian pontine reticular formation or abducens nerve nucleus within the pontine tegmentum.</div></div><div><h3>Case presentation</h3><div>A 7-year-old girl presented with acute onset nausea, vomiting, diplopia, and exotropia, occurring 4 weeks after influenza vaccination. Examination revealed preserved vertical gaze bilaterally with complete horizontal gaze palsy in the right eye and isolated adduction deficit in the left eye, while convergence remained intact. Neurological examination was otherwise unremarkable. Brain magnetic resonance imaging (MRI) demonstrated high signal intensity lesions in the pontine tegmentum, medulla oblongata, and cerebral white matter without gadolinium enhancement. Treatment with prednisolone rapidly resolved oculomotor deficits, and the patient remained asymptomatic with no new MRI lesions at 1 year follow-up.</div></div><div><h3>Discussion</h3><div>The patient was diagnosed with isolated OAAH syndrome. The cause was considered as clinically isolated syndrome (CIS) based on demyelinating changes on MRI in the region associated with OAAH syndrome and not meeting the criteria for acute disseminated encephalomyelitis or multiple sclerosis (MS). Isolated OAAH syndrome in the pediatric population is uncommon, with few case reports, including a case of MS. Furthermore, the association between influenza vaccinations and CIS remains unclear.</div></div><div><h3>Conclusion</h3><div>We reported a case of isolated OAAH syndrome caused by CIS in a pediatric population.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100090"},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366148","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":"2025-06-16","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":"Corrigendum to “Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus” [Brain Dev. Case Rep. 3(2) (2025) 100069]","authors":"Takeshi Inoue ,&nbsp;Kei Ohashi ,&nbsp;Ayako Hattori ,&nbsp;Mariko Saito ,&nbsp;Tomoshige Tanimura ,&nbsp;Daisuke Ieda ,&nbsp;Kyoko Ban ,&nbsp;Fuyuki Miya ,&nbsp;Shinji Saitoh","doi":"10.1016/j.bdcasr.2025.100087","DOIUrl":"10.1016/j.bdcasr.2025.100087","url":null,"abstract":"","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100087"},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262930","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":"2025-06-11","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}

{"title":"Endoscope-assisted corpus callosotomy for drug-resistant epilepsy in Moyamoya disease after revascularization surgery: A case report","authors":"Maki Narui ,&nbsp;Noritsugu Kunihiro ,&nbsp;Takehiro Uda ,&nbsp;Ryoko Umaba ,&nbsp;Ichiro Kuki ,&nbsp;Akane Shikata ,&nbsp;Keisuke Oki ,&nbsp;Shin Okazaki ,&nbsp;Hiroaki Sakamoto","doi":"10.1016/j.bdcasr.2025.100086","DOIUrl":"10.1016/j.bdcasr.2025.100086","url":null,"abstract":"<div><h3>Background</h3><div>Approximately 20 % of patients with Moyamoya disease develop drug-resistant epilepsy; however, the unusual hemodynamics following revascularization surgery increase the complexity of surgical interventions.</div></div><div><h3>Case</h3><div>We report a case of <strong>a</strong> 9-year-old girl with Moyamoya disease who underwent revascularization surgery at the age of 2 and subsequently developed drug-resistant epilepsy characterized by focal-to-atonic seizures and startle seizures that resulted in traumatic injury. After thorough preoperative evaluations of both intracranial and extracranial hemodynamics, a safe craniotomy entry site was identified in the high frontal region. Corpus callosotomy was achieved via a small craniotomy with neuroendoscopic assistance. Postoperatively, the frequency of startle seizures decreased to levels that no longer caused trauma, and the focal-to-atonic seizures were reduced by more than 50 %.</div></div><div><h3>Conclusion</h3><div>Corpus callosotomy via a small craniotomy may be an effective treatment option for drug-resistant epilepsy associated with Moyamoya disease.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100086"},"PeriodicalIF":0.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221224","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":"Ineffectiveness of creatine, glycine, and arginine supplementation in a female with creatine transporter deficiency: A case report","authors":"Mayuka Tsuchida ,&nbsp;Kyoko Takano ,&nbsp;Masaru Nasuno ,&nbsp;Manami Yabe ,&nbsp;Makoto Nishioka ,&nbsp;Takenori Natsume ,&nbsp;Tomoki Kaneko ,&nbsp;Tetsuhiro Fukuyama","doi":"10.1016/j.bdcasr.2025.100082","DOIUrl":"10.1016/j.bdcasr.2025.100082","url":null,"abstract":"<div><h3>Background</h3><div>Creatine transporter deficiency (CTD), caused by pathogenic variants of the <em>SLC6A8</em> gene, is a significant cause of X-linked neurodevelopmental disorders. Heterozygous female patients with CTD exhibit residual creatine transporter activity. Therefore, supplementation therapy with creatine, arginine, and glycine is hypothesized to elevate cerebral creatine levels and improve clinical symptoms.</div></div><div><h3>Case presentation</h3><div>We describe the case of a 12-year-old Japanese girl diagnosed with CTD using genetic analysis and magnetic resonance spectroscopy (MRS). The patient presented with intellectual disabilities, behavioral disturbances, and drug-resistant epilepsy. Supplementation therapy with creatine (400 mg/kg/day), glycine (200 mg/kg/day), and arginine (200 mg/kg/day) led to an increase in cerebral creatine levels as measured by MRS; however, no clinical improvement was observed in her seizures and behavioral symptoms.</div></div><div><h3>Discussion</h3><div>Previously reported cases revealed variability in responses to supplementation therapy among female patients with CTD. Although the factors underlying the differences in therapeutic efficacy remain unclear, higher doses of arginine may be correlated with improved outcomes. Standardized quantitative evaluations using MRS could facilitate more accurate predictions of the efficacy of supplementation therapy.</div></div><div><h3>Conclusion</h3><div>This case highlights the complexities involved in managing female patients with CTD and underscores the need for standardized treatment and evaluation protocols. International collaboration is crucial for developing optimized therapeutic strategies for this rare condition.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100082"},"PeriodicalIF":0.0,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221223","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 pediatric insulinoma misdiagnosed as atypical epilepsy for 4 years","authors":"Rina Takano ,&nbsp;Nozomi Hishimura ,&nbsp;Naoya Kaneko ,&nbsp;Megumi Endo ,&nbsp;Takeshi Yamaguchi ,&nbsp;Liu Zhitong ,&nbsp;Yasuhisa Odagawa ,&nbsp;Shohei Honda ,&nbsp;Tatsuhiko Kakisaka ,&nbsp;Insu Kawahara ,&nbsp;Daisuke Kato ,&nbsp;Ryo Morita ,&nbsp;Daisuke Abo ,&nbsp;Ayumi Takayanagi ,&nbsp;Akie Nakamura ,&nbsp;Atsushi Manabe ,&nbsp;Kiyoshi Egawa ,&nbsp;Shuntaro Morikawa","doi":"10.1016/j.bdcasr.2025.100084","DOIUrl":"10.1016/j.bdcasr.2025.100084","url":null,"abstract":"<div><h3>Background</h3><div>Hypoglycemia can cause various neurological symptoms, including seizures and impaired consciousness; however, they are often non-specific and can easily be overlooked. In pediatric patients, recurrent hypoglycemia-related seizures are rare, and can frequently lead to a misdiagnosis of epilepsy.</div></div><div><h3>Case presentation</h3><div>An 8-year-old boy initially presented with clonic convulsions or myoclonic jerks, primarily affecting the right upper limb without impairment of awareness. He later developed generalized tonic-clonic convulsions or non-convulsive seizures with altered consciousness and urinary incontinence. He was diagnosed with symptomatic focal epilepsy, and levetiracetam and valproic acid were initiated. At the age of 13 years, blood test results revealed hyperinsulinemia and severe hypoglycemia. Abdominal CT and a selective arterial secretagogue injection test identified a functional pancreatic neuroendocrine tumor. Subsequent surgical procedures and histopathological analyses confirmed the diagnosis of an insulinoma. These findings clarified the cause of the patient's recurrent seizures, which were secondary to severe hypoglycemia. Genetic analysis identified a pathogenic variant of <em>MEN1</em> gene (NM_001370259.2(MEN1): c.784-9G&gt;A), leading to the diagnosis of insulinoma associated with multiple endocrine neoplasia type 1.</div></div><div><h3>Conclusion</h3><div>This patient underscores the diagnostic challenge of hypoglycemia-related neurological symptoms and highlights the importance of screening for hypoglycemia in pediatric patients presenting with atypical seizure features.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100084"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144204271","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":"2025-05-28","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}