Brain and Development Case Reports最新文献

{"title":"Delayed identification of MYBPC1-related myopathy in adolescence: Diagnostic value of resting tongue ultrasonography in myogenic tremor","authors":"Megumi Tsuji ,&nbsp;Yukiko Kuroda ,&nbsp;Shotaro Morikawa ,&nbsp;Yutaka Hatano ,&nbsp;Azusa Ikeda ,&nbsp;Tomohide Goto","doi":"10.1016/j.bdcasr.2025.100109","DOIUrl":"10.1016/j.bdcasr.2025.100109","url":null,"abstract":"<div><h3>Background</h3><div>The <em>MYBPC1</em> gene, which encodes the slow skeletal myosin binding protein-C, has recently been identified as the causative gene for a rare, mild myopathy associated with myogenic tremor</div></div><div><h3>Case presentation</h3><div>Our patient was a Japanese girl born full-term via normal delivery. No consanguinity or family history of neuromuscular disorders was reported. The patient's motor developmental milestones were slightly delayed. Independent walking was not achieved until 1 year and 7 months of age. Hand tremors had been observed since 2 years of age. The patient was not physically active and had been experiencing fatigue since 12 years of age. At her first visit to our hospital at 14 years of age, she presented with distal muscle weakness, a high-arched palate, decreased deep tendon reflexes, involuntary tongue movement resembling fasciculations, and mild scoliosis. However, the patient's nerve conduction velocity and electromyogram results were normal. Ultrasonographic examination of the tongue revealed rhythmic movement, consistent with tremors, which disappeared at rest. A heterozygous, missense pathogenic variant (c.[788T&gt;G] (p.Leu263Arg)) in the <em>MYBPC1</em> gene was identified using the TruSight One Sequencing Panel</div></div><div><h3>Discussion</h3><div>Muscle weakness is caused by the altered binding of the mutant MYBPC1 protein to myosin. However, the mechanism by which the dysfunction of the MYBPC1 protein, which is not expressed in the central or peripheral nervous system, leads to tremors remains unclear. The diagnosis can only be confirmed via genetic testing. However, tongue tremors may be mistaken for fasciculations. Electromyography and tongue ultrasonography may be useful in achieving an early diagnosis.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100109"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145060500","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":"Fatal acute fulminant cerebral edema complicating Kawasaki disease in an infant: a case report","authors":"Shunsuke Nukaga ,&nbsp;Takeshi Ono ,&nbsp;Michiko Fuse ,&nbsp;Sho Horiguchi ,&nbsp;Yukie Izumita ,&nbsp;Ko Matsui ,&nbsp;Fujito Numano ,&nbsp;Akihiko Saitoh ,&nbsp;Kei Nishiyama","doi":"10.1016/j.bdcasr.2025.100113","DOIUrl":"10.1016/j.bdcasr.2025.100113","url":null,"abstract":"<div><div>Background: The neurological complications of Kawasaki disease (KD) are rare and typically benign. However, recent reports have described severe presentations including acute fulminant cerebral edema (AFCE), which may be associated with cerebral vasculitis.</div><div>Case presentation: A previously healthy 23-month-old girl was diagnosed with KD on day five of illness. Initial treatment with intravenous immunoglobulin (IVIG) and aspirin led to temporary resolution of fever. On day 14, symptoms recurred, and a second dose of IVIG was administered. On day 16, the patient developed generalized seizures refractory to midazolam that required fosphenytoin administration. Brain MRI performed 2 h after seizure onset revealed hyperintensity in the deep white matter on T2-weighted and fluid-attenuated inversion recovery imaging, isointensity on diffusion-weighted imaging (DWI), and high signal intensity on apparent diffusion coefficient (ADC) maps. The bilateral temporal lobes showed DWI hyperintensity and low ADC signals. Cerebrospinal fluid (CSF) analysis revealed markedly elevated protein levels (445 mg/dL) without pleocytosis or hypoglycorrhachia. The patient received intensive care with mechanical ventilation, continuous sedation, and supportive therapy. Approximately 12 h after seizure onset, the patient developed sudden bradycardia and bilateral fixed dilated pupils. Brain CT revealed extensive cerebral edema. Despite intensive care, she developed brain herniation and died two months after the onset of KD.</div><div>Conclusion: AFCE is a rare but life-threatening complication of KD. MRI findings suggesting vasogenic edema and markedly elevated CSF protein levels may serve as early warnings. Recognition of these findings may allow timely diagnosis and appropriate management of this devastating condition.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100113"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145332614","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":"Severe pediatric case of longitudinally extensive transverse myelitis, brainstem encephalitis, and peripheral neuropathy with double positive anti-glial fibrillary acidic protein α and anti-lactosylceramide antibodies","authors":"Satoru Ikemoto ,&nbsp;Tetsumaru Fujita ,&nbsp;Haruka Takami ,&nbsp;Ken Ito ,&nbsp;Toshiki Tsunogai ,&nbsp;Norimichi Higurashi ,&nbsp;Satoshi Matsushima ,&nbsp;Akio Kimura ,&nbsp;Takayoshi Shimohata ,&nbsp;Tatsuro Mutoh","doi":"10.1016/j.bdcasr.2025.100105","DOIUrl":"10.1016/j.bdcasr.2025.100105","url":null,"abstract":"<div><h3>Background</h3><div>We present a pediatric case of longitudinally extensive transverse myelitis, brainstem encephalitis, and peripheral neuropathy, double positive for anti-glial fibrillary acidic protein (GFAP)α and anti-lactosylceramide (LacCer) antibodies, presenting GFAP-astrocytopathy (GFAP-A) and encephalo-myelo-radiculo-neuropathy (EMRN).</div></div><div><h3>Case presentation</h3><div>A 12-year-old boy presented with headaches and fever for 10 days. Initial clinical evaluation revealed hyponatremia, urinary retention, and altered consciousness with confusion. Brain magnetic resonance imaging (MRI) demonstrated a hyperintense abnormality in the splenium of the corpus callosum on T2- and diffusion-weighted images, consistent with reversible splenial lesion syndrome. The patient progressively experienced decreased consciousness and brainstem dysfunction (hypoventilation and brainstem reflex loss), was admitted to the intensive care unit, and treated for severe cardiac dysfunction and acute respiratory distress. Methylprednisolone, immunoglobulin, and plasma exchange were intravenously administered. A second MRI scan on day 31 showed multiple long T2 lesions in the brainstem and its surface, basal ganglia, thalamus, claustrum, white matter, and cerebellum. Spinal MRI revealed a longitudinally extensive spinal cord lesion extending into the central gray matter and enhanced nerve roots. Neural conductivity examination revealed motor axonopathy and loss of F-waves. Anti-GFAPα antibodies in the cerebrospinal fluid (CSF) and anti-LacCer antibodies in the serum and CSF were present. Gradually, the patient recovered from cardiac dysfunction and regained respiration and brainstem reflexes. Severe lower-limb-dominant flaccid paralysis and bladder and bowel dysfunctions remained.</div></div><div><h3>Discussion/Conclusion</h3><div>This severe case of overlapping anti-GFAPα and anti-LacCer antibodies highlights the importance of careful autoantibody examination in cases with EMRN and/or GFAP-A.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100105"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144908870","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":"Dynamics of the cytokine profiles in Rasmussen's encephalitis: A case report","authors":"Kotaro Watanabe,&nbsp;Kengo Moriyama,&nbsp;Shuya Kaneko,&nbsp;Asami Shimbo,&nbsp;Taisuke Yamauchi,&nbsp;Yumie Tamura,&nbsp;Hitoshi Irabu,&nbsp;Masaki Shimizu,&nbsp;Masatoshi Takagi,&nbsp;Tomoko Mizuno","doi":"10.1016/j.bdcasr.2025.100107","DOIUrl":"10.1016/j.bdcasr.2025.100107","url":null,"abstract":"<div><h3>Introduction</h3><div>Although cytotoxic T cells (CTL) and activated microglia affect the pathophysiology of Rasmussen's encephalitis (RE), the correlation between these immune cells and cytokines has yet to be elucidated. We analyzed the dynamics of the cytokine profiles in a patient with RE.</div></div><div><h3>Case presentation</h3><div>A 6-year-old girl without any medical history developed right hemiconvulsions. EEG showed left parietal to temporal epileptiform discharges, and positron emission tomography revealed left parietal lobe hypoperfusion. At age 9 years, the patient developed epilepsia partialis continua, with subsequent MRI showing mild atrophy of the left hemisphere, based on which a diagnosis of RE was established. Monthly methylprednisolone pulse therapy was then initiated, with the patient's cytokine profiles being recorded at four time points. In the acute phase, C-X-C motif chemokine 9 (CXCL9) increased but later decreased in the cerebrospinal fluid (CSF). Meanwhile, interleukin-6 (IL-6) was negative in the acute phase but increased in the chronic phase.</div></div><div><h3>Discussion</h3><div>Elevated CXCL9 in the CSF during the acute phase indicates increased secretion of interferon γ due to the abnormal activation of CTL, which is characteristic of RE. Hence, measuring CXCL9 levels in the CSF during the acute phase may help diagnose RE. We observed elevated IL-6 levels in the CSF during the chronic phase, which possibly reflects long-lasting central nervous system inflammation.</div></div><div><h3>Conclusion</h3><div>We outline the cytokine profile dynamics in an RE patient in hopes of contributing to the early diagnosis of RE and selection of therapeutic approach.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100107"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144913260","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":"Long-term outcomes of add-on risdiplam after nusinersen in pediatric spinal muscular atrophy: A three-year case report and literature review","authors":"Qunyan Su ,&nbsp;Jingjing Jin ,&nbsp;Min Lin ,&nbsp;Jian Hong ,&nbsp;Yandan Yin ,&nbsp;Yan Hong ,&nbsp;Beibei Jiang ,&nbsp;Guiying Ruan ,&nbsp;Jin Chen","doi":"10.1016/j.bdcasr.2025.100115","DOIUrl":"10.1016/j.bdcasr.2025.100115","url":null,"abstract":"<div><h3>Background</h3><div>Spinal muscular atrophy (SMA), caused by biallelic survival motor neuron 1 (<em>SMN</em>1) mutations, leads to progressive motor neuron degeneration. While nusinersen (intrathecal antisense oligonucleotide <em>SMN</em>2 splicing modifier) and risdiplam (oral <em>SMN</em>2 splicing modifier) have revolutionized SMA treatment, real-world evidence on add-on use remains limited.</div></div><div><h3>Case presentation</h3><div>Two pediatric SMA type II cases (Case 1: age 9 years 4 months; Case 2: age 5 years 2 months) underwent 3-year follow-up. Both received nusinersen monotherapy add-on risdiplam therapy. Case 1 (treatment initiated at age 6 years 1 month) achieved sustained motor improvements (Hammersmith Functional Motor Scale–Expanded [HFMSE]: 30 → 42), including independent ambulation (10 m), while Case 2 (treatment initiated at age 2 years 0 month) progressed from no head control to assisted standing (HFMSE: 3 → 28). Transient thrombocytopenia (Case 1) and alanine aminotransferase (ALT) elevation (Case 2) resolved without intervention. Pulmonary function showed no clinically significant decline (FVC &gt;70 % predicted throughout), despite motor gains.</div></div><div><h3>Conclusion</h3><div>After risdiplam was added, both patients continued to gain motor function beyond the levels reached during nusinersen monotherapy. The safety profile aligned with prior trials, supporting its feasibility. Genetic modifiers (e.g., <em>SMN</em>2 microduplications) influenced therapeutic responses, highlighting personalized strategies. Future studies should optimize pharmacokinetic sequencing and validate biomarkers (e.g., neurofilament light chain) to guide multimodal regimens.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100115"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145578927","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":"Temporal lobe-predominant cortical dysplasia with mild cortical thickening in FOXG1 syndrome","authors":"Kei Yamada ,&nbsp;Yu Kobayashi ,&nbsp;Masaki Miura ,&nbsp;Moemi Hojo ,&nbsp;Ai Fukushima ,&nbsp;Hiromi Nyuzuki ,&nbsp;Naoya Saijo ,&nbsp;Jun Takayama ,&nbsp;Atsuo Kikuchi ,&nbsp;Shigeo Kure ,&nbsp;Jun Tohyama","doi":"10.1016/j.bdcasr.2025.100119","DOIUrl":"10.1016/j.bdcasr.2025.100119","url":null,"abstract":"<div><h3>Background</h3><div>Forkhead box G1 (<em>FOXG1</em>) gene syndrome is a neurodevelopmental disorder characterized by severe developmental delays, microcephaly, autistic features, epilepsy, and complex hyperkinetic-dyskinetic movement disorders. We present the case of a Japanese patient with microcephaly, cortical dysplasia with irregular gyri and mild cortical thickening in the temporal and frontal lobes, and a <em>de novo</em> heterozygous missense variant in <em>FOXG1</em>.</div></div><div><h3>Case presentation</h3><div>The patient was an 11-year-old Japanese boy who presented with microcephaly at 3 months of age. At 2 years and 10 months of age, he presented with frequent tonic seizures of unknown onset. Physical examination revealed microcephaly and dysmorphic features. He exhibited severe developmental delays and generalized hypotonia. Brain magnetic resonance imaging (MRI) revealed anterior hypogenesis of the corpus callosum, decreased cerebral volume, mildly delayed myelination, and cortical dysplasia with irregular gyri and mild cortical thickening, particularly in the temporal lobes. His seizures resolved after administering carbamazepine. Trio-based whole-exome sequencing analysis of the patient and his parents revealed a <em>de novo</em> heterozygous missense variant, NM_005249.5:c.688C&gt;T p.(Arg230Cys), located in the forkhead DNA-binding domain of <em>FOXG1</em>, a recurrent variant that was finally diagnosed as <em>FOXG1</em> syndrome.</div></div><div><h3>Conclusions</h3><div>Cortical malformation in <em>FOXG1</em> syndrome is often observed in the frontal lobe. The cortical dysplasia and mild cortical thickening observed in our patient was predominantly in the temporal cortex, suggesting distinctive findings. These results provide new insights into brain malformations associated with <em>FOXG1</em> syndrome.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100119"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145623980","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":"Disease progress in a patient with pyridoxine-dependent epilepsy, who was diagnosed at 12 months of age","authors":"Shunsuke Mizutani ,&nbsp;Koya Kawase ,&nbsp;Hisakazu Majima ,&nbsp;Yuji Nakamura ,&nbsp;Kaori Aiba ,&nbsp;Seiji Watanabe ,&nbsp;Tomoyuki Akiyama ,&nbsp;Hirotomo Saitsu ,&nbsp;Naomichi Matsumoto ,&nbsp;Kenji Yokochi","doi":"10.1016/j.bdcasr.2025.100093","DOIUrl":"10.1016/j.bdcasr.2025.100093","url":null,"abstract":"<div><h3>Background</h3><div>Pyridoxine-dependent epilepsy (PDE) classically presents as neonatal seizures that are resistant to antiseizure medications (ASMs), but responsive to pyridoxine (vitamin B6). Clinical symptoms of patients with PDE are often diverse and non-specific. In addition, electroencephalography (EEG) and magnetic resonance imaging (MRI) findings in the brain are not fully understood.</div></div><div><h3>Case presentation</h3><div>Here, we report the case of a patient diagnosed with PDE at 12 months of age. A few hours after birth, the patient presented with various types of abnormal movements, including jerky, clonic, and spasmoid movements. Although burst suppression was obvious in the EEG during the early neonatal period, it disappeared, and only a dysmorphic pattern was observed after 2 weeks of age, without pyridoxine treatment. Because abnormal movements were sometimes resistant to ASMs, oral administration of pyridoxine was initiated at 1 month of age. However, this effect was not significant. Therefore, it was determined that there was no pyridoxine dependence, and pyridoxine was discontinued. Abnormal movements were remarkable after 2 months of age. EEG again showed burst suppression. MRI of the brain revealed progressive white matter atrophy. At 12 months of age, genetic testing revealed an <em>ALDH7A1</em> mutation, which led to the diagnosis of PDE.</div></div><div><h3>Conclusion</h3><div>The characteristic abnormal movement in our case was spasmoid movement. Further investigation of EEG correspondence of the spasmoid movement is required. Burst suppression is a well-known EEG finding in PDE, but is not specific to PDE. Our case suggests that burst suppression severity varies depending on the time period.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100093"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571962","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":"2025-09-01","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":"A case of acute renal failure requiring blood purification after status epilepticus","authors":"Kazuo Kubota ,&nbsp;Junko Naito ,&nbsp;Miho Adachi ,&nbsp;Hidenori Ohnishi","doi":"10.1016/j.bdcasr.2025.100100","DOIUrl":"10.1016/j.bdcasr.2025.100100","url":null,"abstract":"<div><h3>Background</h3><div>The prognosis for patients with status epilepticus (SE) can be poor because of various organ dysfunctions including renal complications such as acute kidney injury caused by rhabdomyolysis, acute renal failure with loin pain and patchy renal ischemia after anaerobic exercise, and acute uric acid nephropathy. We report a case of acute renal failure requiring hemodiafiltration (HDF) after SE.</div></div><div><h3>Case presentation</h3><div>The patient was a 20-year-old man with intractable focal epilepsy. He was treated with zonisamide, clobazam, lamotrigine, lacosamide, and topiramate. SE occurred suddenly after he had breakfast. When he arrived at our hospital, his SE had ceased and he had a decreased level of consciousness. His respiratory sounds were weak and gasping breaths were noted. Blood examination tests showed marked metabolic acidosis, hyperlactatemia, elevated creatinine, and hypokalemia. Because his uric acid level increased to 24.0 and he had become anuric, he was started on HDF. The cause of acute renal failure was thought to be acute uric acid nephropathy. Three days after the start of HDF, urination started. HDF was terminated on the 7th day and he was discharged from hospital on the 42nd day.</div></div><div><h3>Conclusion</h3><div>Young adult men with greater muscle mass may experience increased nucleotide breakdown during seizures, raising serum uric acid levels, and potentially leading to a risk of acute uric acid nephropathy. Because there is a risk of serious organ damage including acute renal failure such as acute uric acid nephropathy after SE, a patient's general condition after SE should be monitored carefully.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100100"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144724697","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":"Non-invasive functional testing facilitates diagnostic confirmation in glucose transport 1 deficiency syndrome","authors":"Wui-Kwan Wong ,&nbsp;Bindu Parayil Sankaran ,&nbsp;Josep Bonet ,&nbsp;Vincent Petit ,&nbsp;Teresa Marzulli ,&nbsp;Julie Curtin ,&nbsp;Emma Hackett ,&nbsp;Shanti Balasubramaniam","doi":"10.1016/j.bdcasr.2025.100098","DOIUrl":"10.1016/j.bdcasr.2025.100098","url":null,"abstract":"<div><h3>Background</h3><div>Glucose transporter type 1 deficiency syndrome (Glut1DS) is an autosomal dominant neurometabolic disorder caused by pathogenic variants in <em>SLC2A1,</em> resulting in impaired glucose transport across the blood-brain barrier. Manifestations include epilepsy, movement disorders, and developmental delay. Historically, diagnosis is made by a combination of clinical phenotype, cerebrospinal fluid (CSF) analysis showing hypoglycorrhachia and identifying a pathogenic variant in <em>SLC2A1</em>. Manifestations are often refractory to symptomatic medications. Classical ketogenic or modified Atkins diet should be started early and is highly effective in mitigating symptoms.</div></div><div><h3>Methods and results</h3><div>We report a 5-year-old, developmentally normal female who presented with early onset absence seizures at eight months of age that were refractory to treatment with ethosuximide. Electroencephalogram showed a generalised 3 Hz spike and wave activity suggestive of absence seizures. CSF glucose level was 2.1 mmol/L (reference range 2.8–4.4 mmol/L) with CSF: blood glucose ratio 0.48 (normal range 0.41–0.88). Epilepsy gene panel testing identified a de novo variant of unknown significance in <em>SLC2A1</em> (c.730 A&gt;G (p.Met244Val)). Given the diagnostic uncertainty, direct quantification of Glut1 by flow cytometry (METAglut1 assay) was performed on whole blood, demonstrating a 25 % reduction in Glut1 protein expression at the proband's red blood cell membrane, consistent with Glut1DS. She was started on the modified Atkins diet with complete cessation of absence seizures after 24 h on the diet, was later weaned off ethosuximide and remained seizure free.</div></div><div><h3>Conclusions</h3><div>Non-invasive Glut1 testing can be performed with rapid turnaround (2 h from sample preparation to results) in suspected Glut1DS patients, facilitating diagnostic confirmation and early treatment initiation.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100098"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144662962","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}