Brain and Development Case Reports最新文献

{"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}

{"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":"2025-05-27","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":"Effective relapse prevention with monthly intravenous immunoglobulin therapy in a pediatric patient with anti-neutral glycolipid antibody-positive Encephalomyeloradiculoneuropathy","authors":"Hiroki Izumo ,&nbsp;Yoshiyuki Kobayashi ,&nbsp;Yuta Eguchi ,&nbsp;Yuichi Tateishi ,&nbsp;Satoshi Okada ,&nbsp;Tatsuro Mutoh ,&nbsp;Nobutsune Ishikawa","doi":"10.1016/j.bdcasr.2025.100079","DOIUrl":"10.1016/j.bdcasr.2025.100079","url":null,"abstract":"<div><h3>Background</h3><div>Encephalomyeloradiculoneuropathy (EMRN), a rare autoimmune disorder characterized by both central and peripheral neuropathy, is diagnosed by the detection of anti-neutral glycolipid antibodies in the serum and cerebrospinal fluid. Despite growing recognition, management strategies particularly for relapse prevention in children, remain unclear.</div></div><div><h3>Case presentation</h3><div>A 6-year-old girl who was initially admitted to a local hospital for aseptic meningitis, was transferred to our hospital following rapid deterioration with altered consciousness and hypertension. Electroencephalography revealed diffuse high-amplitude slow waves and gadolinium-enhanced MRI showed contrast enhancement in the meninges of the brainstem and lumbar spinal cord. Based on the clinical course, autoimmune encephalitis was suspected, and methylprednisolone pulse therapy along with plasma exchange was administered. Although muscle weakness and loss of tendon reflexes were observed during the course of treatment, all symptoms completely resolved. Anti-lactosylceramide (LacCer), an anti-neutral glycolipid antibody, was detected in the serum and cerebrospinal fluid in the acute phase. However, because the antibody persisted in the convalescent serum and cerebrospinal fluid, regular immunoglobulin therapy was initiated. Fourteen months after treatment initiation, the antibodies disappeared from the cerebrospinal fluid and no clinical recurrence was observed.</div></div><div><h3>Conclusion</h3><div>This case highlights the effectiveness of intravenous immunoglobulin therapy in preventing the recurrence of pediatric EMRN, even in the presence of persistent antibodies. Further studies are needed to establish a definitive therapeutic strategy for preventing disease recurrence.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100079"},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891534","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":"Erythromelalgia presenting with posterior reversible encephalopathy syndrome: A pediatric case report","authors":"Kengo Suzuki ,&nbsp;Kazuhiro Uda ,&nbsp;Mitsuru Tsuge ,&nbsp;Kyosuke Arakawa ,&nbsp;Kenji Shigehara ,&nbsp;Takafumi Obara ,&nbsp;Kosei Hasegawa ,&nbsp;Hirokazu Tsukahara","doi":"10.1016/j.bdcasr.2025.100078","DOIUrl":"10.1016/j.bdcasr.2025.100078","url":null,"abstract":"<div><h3>Background</h3><div>Erythromelalgia is a rare disorder characterized by erythema, warmth, and burning pain in the extremities. We report a pediatric case of erythromelalgia in a patient who developed posterior reversible encephalopathy syndrome (PRES), without any cutaneous signs.</div></div><div><h3>Case presentation</h3><div>A previously healthy 12-year-old girl presented to our pediatric clinic with burning extremity pain that had persisted for 6 weeks. The patient was treated with analgesics; however, the pain was refractory to these agents. Seven days after the first visit, she developed afebrile seizures and was transferred to our hospital. Her initial blood pressure was 139/105 mmHg (+2.0 SD), and brain magnetic resonance imaging revealed high intensity areas in the bilateral parietal and occipital lobes, leading to a diagnosis of PRES. Her blood pressure was difficult to control with anti-hypertensive agents. Burning pain in her extremities was relieved by cooling and worsened by warming. Although erythema was not observed in her hands or legs, erythromelalgia was suspected based on the characteristic nature of her pain. Intravenous lidocaine was administered for diagnosis, which was dramatically effective. After initiating mexiletine, the burning pain in her extremities disappeared, and hypertension improved. A final diagnosis of erythromelalgia with PRES was made.</div></div><div><h3>Conclusion</h3><div>A history of temperature-dependent pain relief and deterioration are important indicators of disease diagnosis, even if patients indicate a lack of erythema or warmth. Physicians should be aware that persistent pain due to erythromelalgia can lead to refractory hypertension and development of PRES.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100078"},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143879078","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":"Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report","authors":"Mayu Inohara,&nbsp;Takeshi Matsushige,&nbsp;Akinori Furusawa,&nbsp;Fumitaka Kohno,&nbsp;Madoka Hoshide,&nbsp;Shunji Hasegawa","doi":"10.1016/j.bdcasr.2025.100076","DOIUrl":"10.1016/j.bdcasr.2025.100076","url":null,"abstract":"<div><h3>Background</h3><div>Sotos syndrome is a genetic disorder distinguished by distinctive facial features, cognitive challenges, and excessive growth, often accompanied by macrocephaly. Although rare, cases of subdural hematomas (SDH) have been reported.</div></div><div><h3>Case presentation</h3><div>We present a case of an 8-month-old boy with Sotos syndrome who presented with SDH of different stages along with an increased head circumference. The infant was born at full term with typical measurements; nevertheless, developmental delays and macrocephaly were observed during follow-up. Subsequent brain MRI revealed features typical of Sotos syndrome, and chromosomal analysis confirmed the diagnosis. Despite the presence of SDH, the patient remained asymptomatic, leading to the choice of conservative treatment.</div></div><div><h3>Discussion</h3><div>This case contributes to the scarce literature on SDH in Sotos syndrome and highlights the possibility of an asymptomatic presentation. While trauma and abuse are frequently considered causes of SDH among infants, exploring alternative factors such as genetic disorders is crucial.</div></div><div><h3>Conclusion</h3><div>Early recognition and proper monitoring of patients with Sotos syndrome are vital, particularly within the first three years of life, and can aid in managing potential complications such as SDH.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100076"},"PeriodicalIF":0.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838504","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":"Elevated lactate dehydrogenase in a patient with late-infantile GM1-gangliosidosis","authors":"Kozue Kobayashi ,&nbsp;Tatsuya Suito ,&nbsp;Nodoka Hinokuma ,&nbsp;Aya Narita ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2025.100077","DOIUrl":"10.1016/j.bdcasr.2025.100077","url":null,"abstract":"<div><h3>Background</h3><div>Monosialotetrahexosylganglioside (GM1)-gangliosidosis is a neurodegenerative lysosomal storage disorder caused by mutations in the <em>GLB1</em> gene encoding the lysosomal enzyme β-galactosidase. When β-galactosidase activity is low or absent, β-linked galactose-containing glycoconjugates build up in neuronal tissue. Aspartate aminotransferase (AST) elevation alone has been reported in patients with infantile or type 1 GM1-gangliosidosis. However, serum lactate dehydrogenase (LD) elevation has not been reported. Here, we report the case of a patient with late infantile GM1-gangliosidosis and elevated serum LD levels.</div></div><div><h3>Case presentation</h3><div>The patient showed a developmental delay at the age of 10 months. He gradually showed pyramidal signs, followed by neurodevelopmental regression at 2 years. He experienced febrile seizures at 2 years and developed epilepsy with unremarkable interictal electroencephalogram findings at 3 years. Blood tests revealed continuous elevation of LD and AST levels without elevation of alanine aminotransferase (ALT). Lactic acid and LD levels were elevated in the cerebrospinal fluid. Brain magnetic resonance imaging at 2 years showed non-specific T2-weighted image, diffusion-weighted image, and apparent diffusion coefficient high-intensity on the deep white matter. A lysosomal enzyme activity test revealed a marked decrease in β-galactosidase activity. Genetic analysis revealed a compound heterozygous <em>GLB1</em> variant, a previously reported pathogenic variant, and a novel variant of unknown significance, which is thought to result in splice loss of the canonical donor site of IVS6 of <em>GLB1</em> according to in silico analysis.</div></div><div><h3>Conclusion</h3><div>Neurodegenerative lysosomal storage disorders such as GM1-gangliosidosis would be considered in infants with developmental delays, elevated serum LD and AST levels, and normal ALT levels.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100077"},"PeriodicalIF":0.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143833324","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":"Au-Kline syndrome with a novel variant in a girl presenting with heat intolerance in the summer: A case report and literature review","authors":"Kazuki Suemune,&nbsp;Hiroshi Yamaguchi,&nbsp;Hiroaki Hanafusa,&nbsp;Ming Juan Ye,&nbsp;Kandai Nozu,&nbsp;Hiroaki Nagase","doi":"10.1016/j.bdcasr.2025.100075","DOIUrl":"10.1016/j.bdcasr.2025.100075","url":null,"abstract":"<div><h3>Background</h3><div>Au-Kline syndrome (AKS) is characterized by moderate-to-severe intellectual disability, hypotonia, and distinctive characteristic facies. Other features, such as cardiac malformations, feeding difficulties, hydronephrosis, high pain tolerance, recurrent fever, abnormal sweating, and heat intolerance, have also been reported. However, our understanding of the heat tolerance of AKS remains limited.</div></div><div><h3>Objective</h3><div>We present a rare case of AKS in a 3-year old girl who presented with poor oral intake during the summer due to heat intolerance. Furthermore, we conducted a detailed review of AKS and investigated the extent to which heat intolerance was reported in patients with AKS.</div></div><div><h3>Methods</h3><div>To evaluate the “heat intolerance” in patients with <em>HNRNPK</em> variants, the literature in English was reviewed for cases reported as patients with <em>HNRNPK</em> variants by searching the PubMed database.</div></div><div><h3>Results</h3><div>A total of 456 articles were identified. We thoroughly reviewed the abstracts and selected articles describing cases with variants in <em>HNRNPK</em>, including two original articles, eight clinical case reports, and two letters to the editor. The cohort consisted of 23 male and 23 female patients with <em>HNRNPK</em> variants. Seventeen patients harbored missense variants, 27 harbored a truncating variant, and two harbored an intron variant. All variants in all the cases were <em>de novo</em>. In this review, we found no reported cases of heat intolerance.</div></div><div><h3>Conclusion</h3><div>We identified a novel <em>HNRNPK</em> variant of AKS associated with heat intolerance symptoms caused by abnormal sweating. Whether heat intolerance in AKS is extremely rare or underreported remains unclear, and further investigation is required.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100075"},"PeriodicalIF":0.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143806891","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":"Alagille syndrome presenting with increased intracranial pressure caused by late-onset craniosynostosis","authors":"Toyo Shimizu ,&nbsp;Atsuko Harada ,&nbsp;Shigeo Kyutoku ,&nbsp;Yuki Wada ,&nbsp;Yoshinori Kadono ,&nbsp;Kazushige Maeno ,&nbsp;Eitaro Hiejima ,&nbsp;Koichi Ueda ,&nbsp;Haruhiko Kishima","doi":"10.1016/j.bdcasr.2025.100074","DOIUrl":"10.1016/j.bdcasr.2025.100074","url":null,"abstract":"<div><h3>Background</h3><div>Alagille syndrome is characterized by intrahepatic cholestasis and abnormalities in the cardiovascular system, eyes, and vertebrae, along with a characteristic facial appearance. The genes responsible are <em>JAG1</em> and <em>NOTCH2</em>. Although craniosynostosis occurs in approximately 1 % of patients with Alagille syndrome, its pathogenesis remains unclear. We report a case of Alagille syndrome, with late-onset craniosynostosis, which was associated with <em>JAG1</em> gene mutation.</div></div><div><h3>Case presentation</h3><div>A 6 years and 5 months old boy presented with severe headache and vomiting. Magnetic resonance (MR) and computed tomography (CT) imaging revealed cerebellar tonsillar herniation and craniosynostosis of the sagittal, bilateral lambdoid, and coronal sutures. Cranial radiography showed marked digital impressions, and ophthalmological assessment revealed bilateral papilledema and reduced visual acuity, resulting in increased intracranial pressure (ICP). The patient was diagnosed with Alagille syndrome, associated with <em>JAG1</em> gene mutation (heterozygosis c.1492_1495delAATG p.Asn498Glyfs*65). The same pathogenic variant was confirmed in his mother and sister. Although he had a mild hepatic disorder and pulmonary artery stenosis, he had grown uneventfully without developmental delays or growth disorders. Two weeks after the first visit, wide coronal craniotomy was performed to reduce the ICP. The headache and vomiting disappeared immediately after surgery, and the visual acuity and papilledema gradually improved.</div></div><div><h3>Conclusion</h3><div>The NOTCH signaling pathway involving <em>JAG1</em> and <em>NOTCH2</em> genes interacts with fibroblast growth factor receptors and the <em>TWIST1</em> gene contributing to syndromic craniosynostosis. It is important to consider the possibility of craniosynostosis and manage increased ICP early in Alagille syndrome, even at school-going age.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100074"},"PeriodicalIF":0.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143759790","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":"Bilateral central retinal artery occlusion in a patient with Duchenne muscular dystrophy","authors":"Fumihito Nozaki","doi":"10.1016/j.bdcasr.2025.100073","DOIUrl":"10.1016/j.bdcasr.2025.100073","url":null,"abstract":"<div><h3>Background</h3><div>Central retinal artery occlusion (CRAO) is a rare emergency ophthalmological condition that causes sudden, acute, painless loss of vision. CRAO is a form of acute ischemic stroke and a harbinger of further cerebrovascular and cardiovascular events. We report the first case of Duchenne muscular dystrophy (DMD) patient with bilateral CRAO.</div></div><div><h3>Case presentation</h3><div>A 29-year-old DMD patient with dilated cardiomyopathy (DCM) presented with sudden, acute, painless loss of vision in the right eye. He was diagnosed with right CRAO by ophthalmological evaluation. Although anterior chamber paracentesis and ocular massage were performed for acute treatment, the patient developed right eye blindness. Due to the absence of thrombus formation, arrhythmia, infection, vasculitis and coagulopathy, antiplatelet therapy was initiated for secondary prevention. One month after the first unilateral CRAO, he developed left CRAO despite antiplatelet therapy.</div></div><div><h3>Conclusions</h3><div>DMD patients with DCM are at potential risk of cerebral infarction, including CRAO. Due to the potential for devastating and permanent complications from CRAO, clinicians should promptly recognize and treat cerebral infarction, including CRAO, in DMD patients.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100073"},"PeriodicalIF":0.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143705531","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":"Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus","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.2025.100069","DOIUrl":"10.1016/j.bdcasr.2025.100069","url":null,"abstract":"<div><h3>Introduction</h3><div>The potassium voltage-gated channel subfamily H member 1 is encoded by the <em>KCNH1</em> gene. Mutations in <em>KCNH1</em> result in Temple-Baraitser (TBS) and Zimmermann-Laband (ZLS) syndromes, which are characterized by developmental delay, epilepsy, and nail dysplasia. These syndromes have clinical overlap and are found in patients with atypical TBS/ZLS phenotypic features. Although <em>KCNH1</em>-related diseases are associated with a high incidence of epilepsy, electroencephalogram (EEG) changes over time have not been studied. In this study, we investigated the longitudinal evolution of EEG findings and types of seizures from the neonatal period to 6 years of age in a patient with a <em>KCNH1</em> variant.</div></div><div><h3>Case report</h3><div>A 6-year-old girl showed features of <em>KCNH1</em>-related disease. Exome analysis revealed a heterozygous <em>de novo</em> missense variant (NM_172362.3; c.1481T&gt;C; p.Ile494Thr) in <em>KCNH1</em>. She presented generalized tonic-clonic seizures (GTCS) at the age of 3 years and 1 month. She also presented with myoclonus in the neonatal period, determined to be involuntary movement because of the absence of corresponding EEG discharges and persistence. The EEG findings evolved as follows: normal at 1 month of age, multifocal spikes started at 3 months of age, and high-voltage slow waves started at 3 months of age, which initially appeared during awake periods.</div></div><div><h3>Conclusion</h3><div>Patients with a <em>KCNH1</em> variant may have GTCS and involuntary movements including myoclonus. Furthermore, high-voltage slow waves in EEG, which are characteristic of patients with <em>KCNH1</em> variants, were not observed immediately after birth but appeared at several months of age.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100069"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685321","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}