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":"2025-01-28","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":"CACNA1A-related familial hemiplegic migraine presenting with prolonged impaired consciousness","authors":"Mami Akamatsu ,&nbsp;Gen Furukawa ,&nbsp;Masayuki Hirai ,&nbsp;Midori Yamada ,&nbsp;Ayami Yoshikane ,&nbsp;Naoko Ishihara ,&nbsp;Hiroki Kurahashi ,&nbsp;Tetsushi Yoshikawa","doi":"10.1016/j.bdcasr.2025.100063","DOIUrl":"10.1016/j.bdcasr.2025.100063","url":null,"abstract":"<div><h3>Background</h3><div>Familial hemiplegic migraine (FHM) is a subtype of migraine with three identified causative genes: <em>CACNA1A</em>, <em>ATP1A2</em>, and <em>SCN1A</em>. However, diagnosis and treatment of FHM are challenging because of the wide phenotypic variation. We describe a family with genetically diagnosed <em>CACNA1A</em>-related FHM1 in which the proband presented with acute encephalopathy-like symptoms.</div></div><div><h3>Case presentation</h3><div>The proband was a 10-year-old girl admitted to our hospital with headache, paresthesia, frequent vomiting, and impaired consciousness. Blood test results and brain imaging were unremarkable, but she had persistent impaired consciousness. Electroencephalography indicated cerebral dysfunction. Consequently, she was treated with intravenous methylprednisolone pulse therapy and intravenous immune globulin for suspected acute encephalopathy. After treatment, her level of consciousness gradually improved, but headache persisted. Detailed interviews revealed that several maternal relatives had similar symptoms; the proband's younger sister subsequently developed headaches and paralysis. Given these findings, we conducted genetic counseling and familial genetic analysis with informed consent, which led to the diagnosis of <em>CACNA1A</em>-related FHM1. The proband started acetazolamide therapy, which successfully prevented the recurrence of attacks. This genetic information was also beneficial for managing the mother's and sister's conditions.</div></div><div><h3>Conclusion</h3><div>In the proband, FHM attacks were severe and occurred at a young age, making genetic diagnosis particularly important. Genetic diagnosis was useful in understanding the symptoms and guiding management for the patient as well as affected family members.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100063"},"PeriodicalIF":0.0,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148727","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":"2025-01-17","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":"A boy with drug-resistant epilepsy and aortopulmonary collateral arteries arising from a KCNT1 variant","authors":"Kentaro Okada ,&nbsp;Takaaki Sawada ,&nbsp;Shiro Ozasa ,&nbsp;Keiko Nomura ,&nbsp;Natsumi Fujiyama ,&nbsp;Shoichiro Kusunoki ,&nbsp;Kotaro Anan ,&nbsp;Fumiya Miyamura ,&nbsp;Osamu Matsuo ,&nbsp;Yuta Inoue ,&nbsp;Naomi Tsuchida ,&nbsp;Naomichi Matsumoto ,&nbsp;Kimitoshi Nakamura","doi":"10.1016/j.bdcasr.2024.100060","DOIUrl":"10.1016/j.bdcasr.2024.100060","url":null,"abstract":"<div><h3>Background</h3><div><em>KCNT1</em> variants are associated with drug-resistant epilepsy, including epilepsy in infancy with migrating focal seizures, and may be associated with aortopulmonary collateral arteries (APCAs). Deaths due to hemoptysis caused by disrupted APCAs have also been reported.</div></div><div><h3>Case report</h3><div>The patient had seizures since 1 month of age. Interictal EEG reveals a suppression-burst pattern. At 3 months of age, echocardiography revealed abnormal blood flow originating in the aorta and a dilated left side of the heart, and contrast-enhanced CT showed numerous APCAs. A targeted sequence analysis revealed a variant of <em>KCNT1</em> (NM_020822.3:c.1130G&gt;C p.Cys377Ser) at 8 months of age. His seizures were refractory and occurred frequently daily, and he had severe psychomotor retardation. Coil embolization for APCAs was performed four times since 4 months of age, and he had never experienced hemoptysis.</div></div><div><h3>Discussion/Conclusion</h3><div>The complications of drug-resistant epilepsy and APCAs should be considered in cases of <em>KCNT1</em> variants. APCAs can be challenging to diagnose in the early postnatal period, and regular cardiovascular evaluations are necessary. Early embolization of APCAs prior to pulmonary hemorrhage onset may effectively prevent pulmonary hemorrhage and mitigate heart failure.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100060"},"PeriodicalIF":0.0,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148726","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":"Mosaic trisomy 12 – A case of a rare phenotypic association and literature review","authors":"Greta Senkeviciute ,&nbsp;Evelina Dagyte ,&nbsp;Vytautas Sliuzas ,&nbsp;Skaiste Peciuliene ,&nbsp;Birute Burnyte","doi":"10.1016/j.bdcasr.2024.100058","DOIUrl":"10.1016/j.bdcasr.2024.100058","url":null,"abstract":"<div><h3>Introduction</h3><div>Mosaicism is a phenomenon when a single fertilized egg develops into an embryo comprising two or more cell clones, each with a unique genotype. Mosaic trisomy 12 is a rare condition with a very variable phenotype. Confirmation of the diagnosis is difficult due to the different ratios and distribution of mosaic cells, various affected tissues, false-negative results and presence of extraembryonic mosaicism.</div></div><div><h3>Case presentation</h3><div>In this study, we report a patient with developmental delay, brain anomalies (mega cisterna magna, hypoplastic corpus callosum and hypophyseal fossa), chorioretinal pigmentary dysplasia, congenital heart disease, bilateral cryptorchidism, hydronephrosis, and dysmorphic features associated to a trisomy 12 mosaicism.</div></div><div><h3>Discussion</h3><div>The manifestation of trisomy 12 mosaicism is multisystemic, and the most frequent finding is dysmorphic features. Other common findings are developmental delay, congenital heart disease, gastrointestinal system malformations, skeletal anomalies, and hypotonia. Fluorescence in situ hybridization analysis, array comparative genomic hybridisation or single nucleotide polymorphism array are being proposed as first-tier methods for diagnosing mosaic trisomy 12.</div></div><div><h3>Conclusion</h3><div>This study expands the phenotypic spectrum associated with this rare condition. Detailed investigation allows individualized care of patients with trisomy 12 mosaicism.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100058"},"PeriodicalIF":0.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143149209","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":"Novel m.3764C>G variant in MT-ND1 linked to severe MELAS syndrome: A case report","authors":"Teona Shatirishvili ,&nbsp;Zura Katsitadze ,&nbsp;Yi Shiau Ng ,&nbsp;Ashwin Achuthaprasad ,&nbsp;Charlotte L. Alston ,&nbsp;Emma L. Blakey ,&nbsp;Douglass M. Turnbull ,&nbsp;Kakha Bregvadze ,&nbsp;Tinatin Tkemaladze ,&nbsp;Nana Nino Tatishvili","doi":"10.1016/j.bdcasr.2024.100059","DOIUrl":"10.1016/j.bdcasr.2024.100059","url":null,"abstract":"<div><h3>Background</h3><div>MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with diverse clinical presentations. Approximately 80 % of MELAS cases are linked to the m.3243A&gt;G pathogenic variant in the <em>MT-TL1</em>. Pathogenic variants in other mtDNA genes, including <em>MT-ND1</em>, can also cause MELAS. We report a case of MELAS in a 16-year-old boy with a novel m.3764C&gt;G variant in the <em>MT-ND1</em>.</div></div><div><h3>Case presentation</h3><div>A 9 years old male patient developed bilateral sensorineural hearing loss followed by a generalized tonic-clonic seizure. At 15, he exhibited progressive fatigue, muscle weakness, and stroke-like episodes. MRI revealed stroke-like lesions in the brain. Over two years, he experienced multiple hospital admissions for severe symptoms including right-sided hemiparesis, hemianopia, seizures, and encephalopathy. Despite treatment, his condition deteriorated, leading to multi-organ failure and death at 16. Molecular genetic analysis identified a heteroplasmic m.3764C&gt;G variant in <em>MT-ND1</em>.</div></div><div><h3>Discussion/Conclusion</h3><div>Presented case highlights the novel m.3764C&gt;G variant in <em>MT-ND1</em> associated with MELAS, emphasizing the variant's pathogenicity based on its absence in human mitochondrial databases, <em>de novo</em> occurrence, and predicted severe impact on ND1 protein function. The patient's rapidly progressive disease course contrasts with typical MELAS trajectories, underscoring the variant's severity. This report expands the clinical and mutational spectrum of MELAS and underscores the need for further research into <em>MT-ND1</em> related MELAS.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100059"},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143149210","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":"Vigabatrin efficacy in focal cortical dysplasia type II with refractory focal status epilepticus, suspected role of mTOR inhibition","authors":"Safoura Kowkabi ,&nbsp;Zahra Rezaei ,&nbsp;Reza Kaboodkhani ,&nbsp;Parvin Ghaemmaghami ,&nbsp;Mohammad Kaboodkhani","doi":"10.1016/j.bdcasr.2024.100055","DOIUrl":"10.1016/j.bdcasr.2024.100055","url":null,"abstract":"<div><h3>Background</h3><div>Focal cortical dysplasia (FCD) type II is a group of malformation of cortical development (MCD) which is the result of abnormal proliferation in the brain. Nowadays, FCD II is classified as mTORopathies caused by mutations leading to abnormal hyperactivation of the mTOR pathway. It locates in the same subcategory as hemimegalencephaly (HME) and tuberous sclerosis complex (TSC).</div></div><div><h3>Case presentation</h3><div>We describe a child with refractory focal status epilepticus and brain MRI features of FCD type II, who did not respond to the usual anti-seizure medications (ASMs) but showed a dramatic response after initiation of vigabatrin. Vigabatrin is an anti-seizure medication with a high response rate for the treatment of infantile spasms and refractory focal epilepsy in TSC.</div></div><div><h3>Conclusion</h3><div>We concluded that vigabatrin could be a promising precision therapy for refractory epilepsy of FCD type II, which has the same pathologic and molecular abnormalities as TSC.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100055"},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143149208","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":"Childhood autoimmune glial fibrillary acidic protein astrocytopathy with spinal cord FDG accumulation on 18F-FDG-PET imaging","authors":"Tatsunori Itabashi ,&nbsp;Yuki Ueda ,&nbsp;Akio Kimura ,&nbsp;Takayoshi Shimohata ,&nbsp;Tomonobu Sato","doi":"10.1016/j.bdcasr.2024.100056","DOIUrl":"10.1016/j.bdcasr.2024.100056","url":null,"abstract":"<div><h3>Background</h3><div>Glial fibrillary acidic protein astrocytopathy (GFAP-A) is an autoimmune central nervous system disease associated with auto-antibodies against GFAP, an intermediate filament protein in astrocytes. GFAP-A typically presents as middle-age-onset subacute meningoencephalitis or meningoencephalomyelitis; however, we present a childhood-onset case of meningomyelitis with persistent fever and malaise.</div></div><div><h3>Case presentation</h3><div>A fourteen-year-old girl presented with persistent high-grade fever, head and body aches, nausea, neck rigidity, weakness in the extremities, and dysuria. An initial diagnosis of aseptic meningitis was made based on increased cells and proteins in her spinal fluid; however, fever and malaise persisted, and no pathogenic antigens or antibodies could be detected. Subsequently, 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) showed extensive longitudinal FDG accumulation along the spinal cord. Ophthalmological examination revealed papilledema. Magnetic resonance imaging of the brain and spine revealed no abnormalities. Based on a suspicion of autoimmune meningomyelitis, we started immunotherapy on day 27. Intravenous methylprednisolone, followed by prednisolone administration relieved the fever and accompanying symptoms that had persisted for a month. A definitive diagnosis of GFAP-A was confirmed by detecting cerebrospinal fluid GFAP-immunoglobulin G in a cell-based assay. Prednisolone was tapered off, with no relapse or significant sequelae.</div></div><div><h3>Discussion/conclusion</h3><div>In children with persistent fever and neurological symptoms, autoimmune central nervous system disorders such as GFAP-A should be considered in the differential diagnosis; further, if infectious pathogens are excluded, immunotherapy should be initiated early. The clinical presentation of GFAP-A is diverse, including cases with no symptoms of encephalopathy. FDG-PET findings in the spinal cord can be a valuable diagnostic aid.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100056"},"PeriodicalIF":0.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148725","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":"Efficacy of combined treatment with a wearable cyborg hybrid assistive limb and intrathecal baclofen therapy in a pediatric patient with spastic paraplegia","authors":"Tomoyuki Masuda ,&nbsp;Ryota Nishikawa ,&nbsp;Takenori Natsume ,&nbsp;Masahisa Komatsu ,&nbsp;Motomu Maruyama ,&nbsp;Sayaka Sato ,&nbsp;Saki Otao ,&nbsp;Masaru Nasuno ,&nbsp;Shihoko Takeuchi ,&nbsp;Maki Shirai ,&nbsp;Mitsuo Motobayashi ,&nbsp;Yuka Misawa ,&nbsp;Yosuke Miyairi ,&nbsp;Yuji Inaba","doi":"10.1016/j.bdcasr.2024.100053","DOIUrl":"10.1016/j.bdcasr.2024.100053","url":null,"abstract":"<div><h3>Background</h3><div>Hybrid Assistive Limb (HAL) is a movement support robot that assists the walking function of patients with diseases causing muscle weakness in the lower limbs.</div><div>Intrathecal baclofen (ITB) therapy exerts positive effects on muscle tone in children with severe spasticity who have difficulty walking.</div><div>The present case report describes a child with spastic paraplegia who underwent intensive robotic rehabilitation with HAL and combined ITB therapy.</div></div><div><h3>Case</h3><div>A 14-year-old boy with spastic paraplegia from Pelizaeus-Merzbacher disease was undergoing treatment with oral muscle relaxants and botulinum toxin A. However, the medications were ineffective and his spasticity was progressing. A baclofen infusion pump was implanted with the catheter tip at the T10 level and ITB therapy was started. A regimen of 12.5 μg/day dose of baclofen was administered and his spasticity of limbs and trunk were attenuated. Walking practice using HAL was performed under spasticity relief by ITB therapy and gait function and patterns, excluding endurance, were improved. The attenuation of spasticity by ITB therapy made “Lying, Rolling and Sitting” easier for the patient, but may have affected “Standing”, which was supported using spasticity, and also affected the Caregiver Assistance Scale of the Mobility domain of the Pediatric Evaluation of Disability Inventory (PEDI). While, the amount of assistance required for the Activities of Daily Living (ADLs) related to self-care and the overall caregiver burden both decreased.</div></div><div><h3>Conclusion</h3><div>This is the first case report to demonstrate the efficacy and safety of combined ITB therapy and HAL rehabilitation in an ambulatory pediatric patient.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100053"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744319","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":"2024-11-26","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}