Brain and Development Case Reports最新文献

{"title":"Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus","authors":"Takeshi Inoue ,&nbsp;Kei Ohashi ,&nbsp;Ayako Hattori ,&nbsp;Mariko Saito ,&nbsp;Tomoshige Tanimura ,&nbsp;Daisuke Ieda ,&nbsp;Kyoko Ban ,&nbsp;Fuyuki Miya ,&nbsp;Shinji Saitoh","doi":"10.1016/j.bdcasr.2025.100069","DOIUrl":"10.1016/j.bdcasr.2025.100069","url":null,"abstract":"<div><h3>Introduction</h3><div>The potassium voltage-gated channel subfamily H member 1 is encoded by the <em>KCNH1</em> gene. Mutations in <em>KCNH1</em> result in Temple-Baraitser (TBS) and Zimmermann-Laband (ZLS) syndromes, which are characterized by developmental delay, epilepsy, and nail dysplasia. These syndromes have clinical overlap and are found in patients with atypical TBS/ZLS phenotypic features. Although <em>KCNH1</em>-related diseases are associated with a high incidence of epilepsy, electroencephalogram (EEG) changes over time have not been studied. In this study, we investigated the longitudinal evolution of EEG findings and types of seizures from the neonatal period to 6 years of age in a patient with a <em>KCNH1</em> variant.</div></div><div><h3>Case report</h3><div>A 6-year-old girl showed features of <em>KCNH1</em>-related disease. Exome analysis revealed a heterozygous <em>de novo</em> missense variant (NM_172362.3; c.1481T&gt;C; p.Ile494Thr) in <em>KCNH1</em>. She presented generalized tonic-clonic seizures (GTCS) at the age of 3 years and 1 month. She also presented with myoclonus in the neonatal period, determined to be involuntary movement because of the absence of corresponding EEG discharges and persistence. The EEG findings evolved as follows: normal at 1 month of age, multifocal spikes started at 3 months of age, and high-voltage slow waves started at 3 months of age, which initially appeared during awake periods.</div></div><div><h3>Conclusion</h3><div>Patients with a <em>KCNH1</em> variant may have GTCS and involuntary movements including myoclonus. Furthermore, high-voltage slow waves in EEG, which are characteristic of patients with <em>KCNH1</em> variants, were not observed immediately after birth but appeared at several months of age.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100069"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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":"2025-03-01","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":"Hypertension due to ACTH treatment for lissencephaly with a novel PAFAH1B1 variant","authors":"Natsumi Ida ,&nbsp;Yoshifusa Abe ,&nbsp;Ryo Karato ,&nbsp;Madoka Shirai ,&nbsp;Kaori Kamijo ,&nbsp;Mariko Takase ,&nbsp;Takeshi Shimizu ,&nbsp;Rei Ebata ,&nbsp;Takeshi Mikawa ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2025.100065","DOIUrl":"10.1016/j.bdcasr.2025.100065","url":null,"abstract":"<div><h3>Background</h3><div>Many patients with lissencephaly present with infantile epileptic spasms syndrome (IESS) or West syndrome and require adrenocorticotrophic hormone (ACTH) treatment. The difference of adverse events of ACTH treatment between lissencephaly and other disorders is unknown.</div></div><div><h3>Case presentation</h3><div>We report the case of an infant with lissencephaly and IESS followed by severe hypertension with cardiac hypertrophy after ACTH treatment, requiring continuous administration of antihypertensive drugs. The infant was delivered at 39 weeks of gestation with a birth weight of 2484 g and was admitted to the neonatal intensive care unit for transient tachypnea. Brain MRI showed posterior predominant agyria compatible to classical lissencephaly grade 2. He harbored a novel <em>de novo</em> variant of <em>PAFAH1B1</em> or <em>LIS1</em> gene, c.485G&gt;A, p. (Gly162Asp). At the age of 5 months, he developed epileptic spasms with hypsarrhythmia on electroencephalogram, leading to the diagnosis of IESS. ACTH and vitamin B6 treatments were effective for seizures and hypsarrhythmia. However, the patient had hypertension (138/100 mmHg) and cardiac hypertrophy and required continuous administration of nicardipine intravenously(0.6–1.0 μg/kg/min).</div></div><div><h3>Conclusion</h3><div>Patients with lissencephaly might be susceptible to severe cardiac adverse events with ACTH treatment.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100065"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148723","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":"2025-03-01","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":"A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1","authors":"Tsuyoshi Aihara ,&nbsp;Yuichi Abe ,&nbsp;Atsushi Nishioka ,&nbsp;Itaru Hayakawa","doi":"10.1016/j.bdcasr.2025.100066","DOIUrl":"10.1016/j.bdcasr.2025.100066","url":null,"abstract":"<div><h3>Introduction</h3><div>Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle weakness and atrophy due to degeneration of anterior horn cells in the spinal cord. It typically results from the allele deletion of <em>SMN1</em> alleles (null-<em>SMN1</em>). With the implementation of newborn screening for SMA (SMA-NBS), most null-<em>SMN1</em> patients are diagnosed in a presymptomatic stage.</div></div><div><h3>Case report</h3><div>A full-term male infant initially had a negative SMA-NBS result but presented with muscle weakness within his first month. By two months, genetic testing identified a single allele deletion and a point variant in the Tudor domain of <em>SMN1</em>, along with three copies of <em>SMN2</em>, confirming SMA type I. The patient was treated with onasemnogene abeparvovec (OA) gene therapy. However, despite the presence of three SMN2 copies and OA treatment, he eventually required respiratory support, including tracheostomy and mechanical ventilation. At one year and seven months, risdiplam therapy was initiated.</div></div><div><h3>Conclusion</h3><div>SMA patients with <em>SMN1</em> variants may bypass SMA-NBS and can develop severe SMA, depending on variant type, regardless of <em>SMN2</em> copy number.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100066"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143386929","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":"2025-03-01","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":"Sensory tricks initiating before skin contact: New observations in drug-induced tardive dystonia","authors":"Miwa Hagita ,&nbsp;Masaya Kubota","doi":"10.1016/j.bdcasr.2025.100068","DOIUrl":"10.1016/j.bdcasr.2025.100068","url":null,"abstract":"<div><h3>Introduction</h3><div>Dystonia is a movement disorder characterized by involuntary, sustained, or intermittent muscle contractions that often involve abnormalities in sensorimotor integration. Sensory tricks, in which a new sensory input can temporarily correct erroneous motor output, are hallmarks of dystonia. However, the underlying mechanism remains unclear. Here, we report a case of drug-induced tardive dystonia in which the sensory trick effect began <em>before</em> physical contact, providing new insights into its anticipatory processes.</div></div><div><h3>Case report</h3><div>A 17-year-old boy with intellectual disabilities, autism, and behavioral disorders developed torticollis and scoliosis after prolonged treatment with risperidone and levomepromazine. The symptoms included neck muscle co-contraction, leftward rotation, and compensatory scoliosis. A sensory trick was observed; light hand contact with the occiput improved the symptoms. However, the video analysis revealed that symptom relief began during arm movements <em>before</em> physical contact. This suggests the role of proprioception, motor preparation, and motor imagery in the sensory trick phenomenon. Discontinuation of the antipsychotics gradually resolved the symptoms.</div></div><div><h3>Conclusion</h3><div>This report highlights a crucial observation: sensory tricks begin before actual tactile contact, emphasizing the role of proprioceptive signals and motor planning in symptom relief. Anticipatory sensory processing suggests a broader mechanism that extends beyond tactile stimulation. These findings deepen our understanding of sensory tricks in dystonia and their neurophysiological basis, providing insights that could inform therapeutic strategies such as occupational therapy or biofeedback tailored to patients' self-discovered techniques for managing dystonia.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100068"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143486610","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":"2025-03-01","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":"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":"2025-03-01","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":"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":"2025-03-01","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}