Brain and Development Case Reports最新文献

{"title":"Hemorrhagic shock and encephalopathy syndrome with hemophagocytic lymphohistiocytosis pathology caused by cytomegalovirus infection","authors":"Shinji Harada ,&nbsp;Masahiro Nishiyama ,&nbsp;Mao Mizuta ,&nbsp;Masaki Shimizu ,&nbsp;Azusa Maruyama ,&nbsp;Hiroshi Kurosawa ,&nbsp;Yasuo Nakagishi","doi":"10.1016/j.bdcasr.2025.100062","DOIUrl":"10.1016/j.bdcasr.2025.100062","url":null,"abstract":"<div><h3>Background</h3><div>Hemorrhagic shock and encephalopathy syndrome (HSES) is a severe, rare condition with poor prognosis primarily affecting infants and young children. Symptoms include fever, shock, encephalopathy, watery diarrhea, bleeding tendency, and hepatic and renal dysfunction; however, the etiology of HSES remains unknown. We present the case of an infant who developed HSES after initial cytomegalovirus (CMV) infection, suggesting the pathogenesis of hemophagocytic lymphohistiocytosis (HLH).</div></div><div><h3>Case presentation</h3><div>A 56-day-old male infant was admitted to the intensive care unit due to circulatory failure and convulsive seizures. Suspecting septic shock, the infant was initially treated with catecholamines, continuous midazolam for sedation, and antibiotics. Although the seizures had temporarily ceased after admission, the patient experienced recurrent convulsive seizures on day 2 and was administered multiple antiepileptic drugs. Despite these treatments, the patient developed refractory status epilepticus, necessitating thiamylal anesthetic therapy. The initial blood, urine, and cerebrospinal fluid cultures were negative. The patient met the criteria for HSES (encephalopathy, shock, disseminated intravascular coagulopathy, watery diarrhea, cytopenia, acidemia, hepatic and renal dysfunction, and negative blood and cerebrospinal fluid cultures). Furthermore, the patient fulfilled the criteria for HLH (fever, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and elevated ferritin and soluble interleukin-2 receptor levels), with prior CMV infection implicated as a potential trigger.</div></div><div><h3>Conclusion</h3><div>We encountered an infant who developed HSES with HLH secondary to a CMV infection. This study provides new insights into the pathogenesis of HSES involving the HLH pathology.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100062"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143149213","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 case of selective developmental impairment of musical ability: Tone, beat, and chord deafness","authors":"Masayuki Satoh ,&nbsp;Yoshito Mizoguchi ,&nbsp;Katsuyuki Matsui ,&nbsp;Makiko Abe ,&nbsp;Ken-ichi Tabei","doi":"10.1016/j.bdcasr.2025.100064","DOIUrl":"10.1016/j.bdcasr.2025.100064","url":null,"abstract":"<div><h3>Introduction</h3><div>This report explores a rare case of musical disability, highlighting the profound impact it can have on an individual's life.</div></div><div><h3>Case presentation</h3><div>Because of the necessity of a medical note for school, a 21-year-old right-handed man received an evaluation at our institute for his musical abilities, which have been severely impaired since birth. He complained about a complete inability to march and dance in time with music. Moreover, his singing was off-key, though he did not notice this on his own. He made a great effort to improve his musical skills with his parents and teachers, but was unable to, which led him to accept these deficits as a personal characteristic. Neurological examination revealed no abnormal findings in his motor, sensory, and coordination systems. His cognitive functions, including general intelligence, memory, constructional ability, frontal lobe, and executive function, were normal. Brain magnetic resonance imaging/magnetic resonance angiography (MRI/MRA) scans were also normal. Neuromusicological assessments revealed severe impairments in pitch perception and expression; rhythm, meter, and beat perception and expression; and chord perception. He was diagnosed with tone, beat, and chord deafness. He also had difficulty perceiving the esthetic characteristics of music, though he did still enjoy listening to it.</div></div><div><h3>Conclusion</h3><div>These musical challenges caused trouble to the patient in many school and daily life scenarios, and the symptoms were often difficult to be understood by teachers. Thus, it is important to raise awareness of such symptoms and conditions, particularly among educators.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100064"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148724","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":"Examination of two cases with severe motor and intellectual disabilities who died due to acute pancreatitis and review of the literature","authors":"Shungo Fujiki ,&nbsp;Emiko Kobayashi ,&nbsp;Kuniko Tokoro ,&nbsp;Sotaro Yuzawa ,&nbsp;Eiji Matsukuma ,&nbsp;Atsushi Imamura ,&nbsp;Hideo Kaneko","doi":"10.1016/j.bdcasr.2024.100061","DOIUrl":"10.1016/j.bdcasr.2024.100061","url":null,"abstract":"<div><h3>Background</h3><div>Children with severe motor and intellectual disabilities (SMID) experience numerous serious physical health problems and comorbidities. Children with SMID require long-term care from a multidisciplinary team, including rehabilitation. Acute pancreatitis is a life-threating comorbidity in children with SMID. Risk factors for acute pancreatitis in patients with SMID include the absence of voluntary movement, requirement of respiratory devices, panhypopituitarism, thermoregulatory dysfunction, oral administration of valproic acid, gallstones, and low serum albumin levels.</div></div><div><h3>Case presentation</h3><div>We encountered two children with SMID who had been followed at our facility and hospital for an extended period. Both patients were at high risk for developing pancreatitis, particularly after undergoing ventilator support following tracheostomy and the introduction of gastrostomy feeding. In both cases, the diagnosis was triggered by changes in vital signs, such as an increase in heart rate, and confirmed by imaging findings consistent with acute pancreatitis. Both patients faced challenges with enteral nutrition after developing pancreatitis, as attempts to restart it led to relapse of pancreatitis. Ultimately, both patients experienced severe outcomes.</div></div><div><h3>Conclusion</h3><div>Efforts to prevent pancreatitis onset are crucial. When changes in a child's physical condition are suspected, especially in children with SMID who have risk factors, pancreatitis should be considered in the differential diagnosis. Regular blood tests should include serum amylase levels. Once pancreatitis is diagnosed, treatment should closely follow established guidelines. Additionally, all staff involved in the care of children with SMID should be aware of the prevalence of acute pancreatitis in this population.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100061"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143149212","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":"2024-12-01","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":"2024-12-01","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":"Use of assessment for neuropathic pain in MOGAD","authors":"Shimpei Matsuda,&nbsp;Shino Shimada,&nbsp;Takato Akiba,&nbsp;Mitsuru Ikeno,&nbsp;Shimpei Abe,&nbsp;Toshiaki Shimizu","doi":"10.1016/j.bdcasr.2024.100054","DOIUrl":"10.1016/j.bdcasr.2024.100054","url":null,"abstract":"<div><h3>Background</h3><div>Myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) is a central inflammatory autoimmune disease primarily characterized by demyelination of the myelin oligodendrocyte glycoprotein and neuronal damage caused by inflammatory cell infiltration. While many studies have reported pain in adult patients with MOGAD, few have reported pain in pediatric patients.</div></div><div><h3>Case report</h3><div>An 8-year-old girl developed repeated focal to bilateral tonic-clonic seizures preceded by episodes of falling. Based on the seizures, electroencephalographic and brain MRI findings, and positive anti-MOG antibodies in the blood and cerebrospinal fluid, she was diagnosed with unilateral cortical fluid-attenuated inversion recovery (FLAIR)-hyperintense lesions in anti-MOG-associated encephalitis with seizures (FLAMES). Although the contrast-enhanced spinal MRI showed no abnormalities, she exhibited Lhermitte's sign and neuropathic pain, implying myelitis as a complication. Neuropathic pain was retrospectively assessed using two questionnaires (PainDETECT and Short-Form McGill Pain Questionnaire-2).</div></div><div><h3>Conclusions</h3><div>We report a case of unilateral cortical encephalitis with suspected myelitis on the MOGAD spectrum. For the assessment of neuropathic pain, the modified questionnaires enabled the quantitative and qualitative evaluation of pediatric MOGAD-related pain.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100054"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142705510","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":"2024-12-01","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":"2024-12-01","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":"Long-term use of efgartigimod alfa in treating a young adult with childhood-onset systemic lupus erythematosus and generalized myasthenia gravis","authors":"Koji Nagatani,&nbsp;Masatoshi Hayashi","doi":"10.1016/j.bdcasr.2024.100052","DOIUrl":"10.1016/j.bdcasr.2024.100052","url":null,"abstract":"<div><h3>Background</h3><div>Patientis with myasthenia gravis (MG) are at increased risk of other autoimmune disorders, such as systemic lupus erythematosus (SLE). The neonatal Fc receptor (FcRn) antagonist, efgartigimod alfa (EFG-α), is effective in generalized MG (gMG) by a mechanism that decreases levels of IgG, including pathological autoantibodies. Although approved in Japan for gMG in 2022, its efficacy for other autoimmune disorders and the effects of long-term use of EFG-α for gMG in children and young adults remain to be elucidated.</div></div><div><h3>Case</h3><div>A 10-year-old girl diagnosed with SLE developed gMG 2 years later. Despite intensive therapy, she also had myasthenic crisis and two recurrences. Moreover, the anti-acetylcholine receptor (AChR) antibody titer remained high, making it difficult to reduce the prednisolone (PSL) dose to below 12.5 mg/day. Eight years later, she had a flare of SLE and was treated with pulse methylprednisolone followed by EFG-α to reduce the PSL dose. A total of six cycles of EFG-α (10 mg/kg) were administered, with four infusions per cycle (one infusion per week) over a period of one and a half years. Consequently, the quantitative MG (QMG) score, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), and anti-double-stranded DNA (dsDNA) antibody titer remained low. Furthermore, the prolonged administration of EFG-α resulted in a reduction in the dosage of prednisolone, which led to improvement in the patient's obesity.</div></div><div><h3>Conclusion</h3><div>EFG-α may be effective not only for MG but also for SLE, maintaining low disease activity and antibody levels. Long-term use could reduce steroid requirement, and thus decrease adverse effects. Expanding the indication of EFG-α to other autoimmune diseases and considering its use in pediatric patients are recommended.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100052"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142655293","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":"Successful coil embolization for treatment of systemic to pulmonary collateral arteries (SPCAs): A case report among series of six cases with KCNT1-epilepsy and literature reviews","authors":"Tanitnun Paprad ,&nbsp;Wuttichart Kamolvisit ,&nbsp;Chupong Ittiwut ,&nbsp;Chureerat Phokaew ,&nbsp;Sarin Lekchuensakul ,&nbsp;Sirorat Suwannachote ,&nbsp;Kamornwan Katanyuwong ,&nbsp;Chanikhan Sattaporn ,&nbsp;Apasri Lusawat ,&nbsp;Tayard Deesudchit ,&nbsp;Ponghatai Boonsimma ,&nbsp;Kanya Suphapeetiporn ,&nbsp;Vorasuk Shotelersuk","doi":"10.1016/j.bdcasr.2024.100049","DOIUrl":"10.1016/j.bdcasr.2024.100049","url":null,"abstract":"<div><h3>Background</h3><div>KCNT1 pathogenic variants are associated with a broad range of neurological and non-neurological phenotypes. Neurologically, these variants are known to cause several epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant sleep-related hypermotor epilepsy (SHE). A potentially fatal cardiovascular phenotype, systemic to pulmonary collateral arteries (SPCAs), has also been suggested as part of the spectrum associated with <em>KCNT1</em> mutations.</div></div><div><h3>Case presentation</h3><div>We describe a patient with <em>KCNT1</em>-associated epilepsy who was found to have SPCAs in a cohort of six Thai cases. The SPCAs were successfully treated with coil embolization.</div></div><div><h3>Results</h3><div>In this cohort, the prevalence of SPCAs in Thai patients with KCNT1-associated epilepsy is estimated to be 16.7 % (1 out of 6). Quinidine therapy was effective in 83 % (5 out of 6) of the reported cases.</div></div><div><h3>Discussion</h3><div>The presence of SPCAs as part of the KCNT1-associated disorder highlights the importance of recognizing cardiovascular phenotypes in these patients. Early identification and intervention, such as coil embolization, can be life-saving.</div></div><div><h3>Conclusion</h3><div>Awareness of SPCAs as a possible cardiac phenotype in <em>KCNT1</em>-associated epilepsy is crucial, as timely and effective treatment can significantly improve patient outcomes.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100049"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142655292","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}