Brain and Development Case Reports最新文献

{"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":"2025-08-29","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":"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":"2025-08-28","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":"A child case presenting with diffuse dural thickening due to a coma after unsuccessful treatment for a first-episode neuromyelitis optica spectrum disorder","authors":"Hayato Nishibayashi,&nbsp;Osamu Kobayashi,&nbsp;Tomoki Maeda,&nbsp;Kenji Ihara","doi":"10.1016/j.bdcasr.2025.100106","DOIUrl":"10.1016/j.bdcasr.2025.100106","url":null,"abstract":"<div><h3>Introduction</h3><div>Fulminant demyelinating diseases, including neuromyelitis optica spectrum disorder (NMOSD), progress rapidly with severe outcomes. We report a pediatric case of NMOSD with diffuse brain edema and a poor neurological prognosis.</div></div><div><h3>Case presentation</h3><div>A 6-year-old boy received an influenza vaccination 12 days prior to onset, and subsequently developed fever, headache, decreased urination frequency, and constipation. He presented with seizures and a disturbance of consciousness accompanied by hyperthermia (&gt; 41 °C). Physical examination revealed tachycardia, neck stiffness, and papilledema. Magnetic resonance imaging (MRI) revealed scattered white matter lesions on T2-weighted images (T2WI) and longitudinally extensive spinal cord lesions from C4 to Th9. A cerebrospinal fluid (CSF) examination revealed elevated pressure and pleocytosis. Despite performing methylprednisolone pulse therapy following the diagnosis of NMOSD, the patient developed distributive shock. Intensive care was introduced, but the patient developed severe brain edema, and his consciousness did not recover after the cessation of intensive care. On day 30, an EEG revealed a flat trace. On day 38, contrast-enhanced MRI revealed diffuse dural thickening. Serum anti-aquaporin-4 antibodies and anti-myelin oligodendrocyte glycoprotein antibodies were negative.<em>Discussion:</em> We speculate that the combination of hyperthermia, intracranial hypertension, and distributive shock led to severe cerebral ischemia in this case. Even in the absence of overt brain edema the initial MRI, a severe clinical course may still occur.</div></div><div><h3>Conclusion</h3><div>In cases of acute encephalopathy or encephalitis presenting with spinal cord symptoms, hyperthermia, and intracranial hypertension, aggressive temperature and circulatory management under intensive care is essential to prevent severe brain edema.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100106"},"PeriodicalIF":0.0,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144908869","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":"Cytotoxic white matter lesions in Menkes disease: A case report of centrum semiovale involvement","authors":"Aki Kawakami ,&nbsp;Mikako Enokizono ,&nbsp;Sahoko Miyama","doi":"10.1016/j.bdcasr.2025.100103","DOIUrl":"10.1016/j.bdcasr.2025.100103","url":null,"abstract":"<div><h3>Background</h3><div>Menkes disease is a rare disorder of copper metabolism characteristically presenting kinky hair as well as neurological symptoms, including epilepsy, developmental delay, and hypotonia. While the kinky hair is a consistent and distinguishing feature, the other symptoms are nonspecific. Neuroimaging studies often find vascular tortuosity and cerebral atrophy whereas white matter involvement is less well-characterized. Most of the lesions stem from vasogenic edema, and reports of cytotoxic changes are rare.</div></div><div><h3>Case presentation</h3><div>We report herein a 10-month-old, male patient with Menkes disease who presented with developmental delay and epileptic spasms. Diffusion-weighted imaging (DWI) revealed symmetrical, oval-shaped areas of hyperintensity with a decreased apparent diffusion coefficient (ADC) in the bilateral centrum semiovale. Proton magnetic resonance spectroscopy (¹H-MRS) demonstrated elevated lactate, suggesting an underlying mitochondrial dysfunction.</div></div><div><h3>Conclusion</h3><div>The findings of the present case indicated that Menkes disease can present not only vascular abnormalities but also cytotoxic white matter lesions in the centrum semiovale, thus highlighting the risk of metabolic injury in addition to that of ischemia.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100103"},"PeriodicalIF":0.0,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144866478","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 natural course of spinal deformity in a patient with type 1 spinal muscular atrophy: A case report","authors":"Chikao Ohigashi ,&nbsp;Masako Tsukanaka ,&nbsp;Kenji Inoue","doi":"10.1016/j.bdcasr.2025.100104","DOIUrl":"10.1016/j.bdcasr.2025.100104","url":null,"abstract":"<div><h3>Background</h3><div>Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and weakness. Patients with type 1 SMA become symptomatic within the first 6 months of their lives. As most patients die before the age of 2, spinal deformity has not been a clinical problem; however, with the emergence of disease-modified therapies (DMT), longer survival is expected. Nonetheless, little is known about the natural long-term course of spinal deformities in patients with type 1 SMA. <em>Case presentation</em>: We report a case of type 1 SMA treated with supportive care without DMT until the age of 22. Radiography revealed a bell-shaped chest at 9 months of age. Thoracic scoliosis was first observed at age 3, progressed to a Cobb angle of 68° at age 13, and remained stable until the age of 26 years. Computed tomography (CT) images obtained after skeletal maturity revealed thoracic lordosis and spontaneous fusion of the lumbar laminae.</div></div><div><h3>Discussion</h3><div>Respiratory failure is the leading cause of death with type 1 SMA, and chest wall deformities can result in reduced breathing capacity and tracheal obstruction. In this case, the slow progression of the deformities may have contributed to the stable ventilation. Thoracic lordosis was also observed. This finding contrasts with the previously reported thoracic kyphosis in patients with type 2 SMA. Three-dimensional computerised tomography (3DCT) images demonstrated laminar fusion, which contributed to spinal stability.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100104"},"PeriodicalIF":0.0,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144878227","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":"Paroxysmal dyskinesia on awakening: A new familial form of non- kinesigenic dyskinesia","authors":"Natan Gadoth","doi":"10.1016/j.bdcasr.2025.100101","DOIUrl":"10.1016/j.bdcasr.2025.100101","url":null,"abstract":"<div><h3>Background</h3><div>The sleep-to-wake and wake –to –sleep transitions known also as post and pre- <em>dormitum</em> are short events resulting from fine activation and deactivation of brain-stem and forebrain modulatory systems. Although sleep related movement disorders (SRMD) were recognized as a new category of sleep disorders since the 2nd version of the International Classification of Sleep Disorders, (ICSD-2), the mentioned list of those disorders did not include movement disorders occurring just before falling asleep or on awakening. Moreover, in a review of sleep-to-wake transitional movement disorders, only propriospinal myoclonus was mention as occurring during awakening.</div></div><div><h3>Case presentation</h3><div>we describe a brother and sister with chronic short events of dyskinesia occurring exclusively on awakening from nocturnal as well as daytime sleep, without evidence of additional neurological or medical abnormalities. Both siblings showed a prompt response to low dose of clonazepam (clonex^R), with long term and complete remission and without ill side effects. The clinical characteristics of this particular movement disorder are unique. A short video clip of the brother is included.</div></div><div><h3>Conclusion</h3><div>Our patients suffer from paroxysmal non-kinesigenic dyskinesia. The relation to sleep suggests that the disorder in our patients represents a new and unique form of familial paroxysmal hypnogenic dyskinesia responsive to clonazepam.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100101"},"PeriodicalIF":0.0,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144861218","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 Duchenne muscular dystrophy who received a short course of exon-skipping therapy 20 years ago has maintained good cardiac function","authors":"Yuka Ishikawa ,&nbsp;Toshihiko Miura ,&nbsp;Yoshinori Nambu ,&nbsp;Hiroyuki Awano ,&nbsp;Yasuhiro Takeshima ,&nbsp;Yukitoshi Ishikawa ,&nbsp;Masafumi Matsuo","doi":"10.1016/j.bdcasr.2025.100102","DOIUrl":"10.1016/j.bdcasr.2025.100102","url":null,"abstract":"<div><h3>Background</h3><div>Duchenne muscular dystrophy (DMD) is a fatal, progressive muscle atrophy and most patients die before the age of 30 from complications of heart failure. We treated a DMD patient (Patient 0) with exon-skipping therapy using antisense oligonucleotides (ASO) for about one year 20 years ago. In this study, Patient 0 was re-evaluated based on hospital medical records using seven DMD patients of the same generation as controls</div></div><div><h3>Case presentation</h3><div>Patient 0 was one of the youngest of the eight patients in terms of age at loss of ambulation, indicating that his disease progression was rapid prior to the start of the treatment. However, his age at the start of 24-h ventilator use was the second oldest of the eight patients, indicating slow disease progression after the end of the treatment. Patient 0, now 31 years old, had normal level of serum N-terminal pro-B-type natriuretic peptide, a marker of myocardial damage, and no heart failure level of left ventricular ejection fraction in cardiac function. Patient 0 was the only patient of his generation who did not have heart failure.</div></div><div><h3>Discussion/conclusion</h3><div>These results suggest that short-term ASO treatment may be effective in preserving respiratory and cardiac function. However, these results were obtained in only one case, and need to be reconfirmed by accumulating long-term follow-up cases of ASO-treated patients in the future.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100102"},"PeriodicalIF":0.0,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828153","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":"2025-07-29","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":"Early onset respiratory failure in two pairs of unrelated Japanese siblings with SELENON-related myopathy","authors":"Manaka Matsunaga ,&nbsp;Shinsuke Maruyama ,&nbsp;Tomomi Nakamura ,&nbsp;Chihiro Yonee ,&nbsp;Takahiro Yonekawa ,&nbsp;Yujiro Higuchi ,&nbsp;Yasuhiro Okamoto","doi":"10.1016/j.bdcasr.2025.100099","DOIUrl":"10.1016/j.bdcasr.2025.100099","url":null,"abstract":"<div><h3>Background</h3><div>SELENON-related myopathy is an autosomal recessive muscle disorder caused by <em>SELENON</em> variants and is clinically characterized by prominent axial muscle weakness, scoliosis, and severe respiratory dysfunction.</div></div><div><h3>Case presentation</h3><div>We present two pairs of Japanese siblings with SELENON-related myopathies. In all our cases, the initial symptoms were noted before the age of one year. All patients developed motor developmental delay and one of four individuals demonstrated poor weight gain. They started using noninvasive positive pressure ventilation between 5 and 9 years of age, and at least three of them did not complain of any symptoms until respiratory assessment. One patient presented with scoliosis and became wheelchair-bound at 11 years of age. Muscle pathology revealed nonspecific myopathic findings in all patients. They demonstrated a homozygous missense variant, c.1574T&gt;G (p.Met525Arg), in <em>SELENON</em>.</div></div><div><h3>Conclusion</h3><div>In SELENON-related myopathy, respiratory function should be regularly examined, and noninvasive mechanical ventilation can be appropriately introduced. Therefore, we recommend the early diagnosis of SELENON-related myopathy.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100099"},"PeriodicalIF":0.0,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721338","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":"2025-07-18","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}