Brain and Development Case Reports最新文献_第2页

A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1

Brain and Development Case Reports Pub Date : 2025-02-12 DOI: 10.1016/j.bdcasr.2025.100066

Tsuyoshi Aihara , Yuichi Abe , Atsushi Nishioka , Itaru Hayakawa

{"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 , Yuichi Abe , Atsushi Nishioka , 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":"2025-02-12","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}

引用次数: 0

A case of selective developmental impairment of musical ability: Tone, beat, and chord deafness

Brain and Development Case Reports Pub Date : 2025-01-31 DOI: 10.1016/j.bdcasr.2025.100064

Masayuki Satoh , Yoshito Mizoguchi , Katsuyuki Matsui , Makiko Abe , Ken-ichi Tabei

{"title":"A case of selective developmental impairment of musical ability: Tone, beat, and chord deafness","authors":"Masayuki Satoh , Yoshito Mizoguchi , Katsuyuki Matsui , Makiko Abe , Ken-ichi Tabei","doi":"10.1016/j.bdcasr.2025.100064","DOIUrl":"10.1016/j.bdcasr.2025.100064","url":null,"abstract":"<div><h3>Introduction</h3><div>This report explores a rare case of musical disability, highlighting the profound impact it can have on an individual's life.</div></div><div><h3>Case presentation</h3><div>Because of the necessity of a medical note for school, a 21-year-old right-handed man received an evaluation at our institute for his musical abilities, which have been severely impaired since birth. He complained about a complete inability to march and dance in time with music. Moreover, his singing was off-key, though he did not notice this on his own. He made a great effort to improve his musical skills with his parents and teachers, but was unable to, which led him to accept these deficits as a personal characteristic. Neurological examination revealed no abnormal findings in his motor, sensory, and coordination systems. His cognitive functions, including general intelligence, memory, constructional ability, frontal lobe, and executive function, were normal. Brain magnetic resonance imaging/magnetic resonance angiography (MRI/MRA) scans were also normal. Neuromusicological assessments revealed severe impairments in pitch perception and expression; rhythm, meter, and beat perception and expression; and chord perception. He was diagnosed with tone, beat, and chord deafness. He also had difficulty perceiving the esthetic characteristics of music, though he did still enjoy listening to it.</div></div><div><h3>Conclusion</h3><div>These musical challenges caused trouble to the patient in many school and daily life scenarios, and the symptoms were often difficult to be understood by teachers. Thus, it is important to raise awareness of such symptoms and conditions, particularly among educators.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100064"},"PeriodicalIF":0.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hypertension due to ACTH treatment for lissencephaly with a novel PAFAH1B1 variant

Brain and Development Case Reports Pub Date : 2025-01-30 DOI: 10.1016/j.bdcasr.2025.100065

Natsumi Ida , Yoshifusa Abe , Ryo Karato , Madoka Shirai , Kaori Kamijo , Mariko Takase , Takeshi Shimizu , Rei Ebata , Takeshi Mikawa , Mitsuhiro Kato

{"title":"Hypertension due to ACTH treatment for lissencephaly with a novel PAFAH1B1 variant","authors":"Natsumi Ida , Yoshifusa Abe , Ryo Karato , Madoka Shirai , Kaori Kamijo , Mariko Takase , Takeshi Shimizu , Rei Ebata , Takeshi Mikawa , 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>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":"2025-01-30","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}

引用次数: 0

Hemorrhagic shock and encephalopathy syndrome with hemophagocytic lymphohistiocytosis pathology caused by cytomegalovirus infection

Brain and Development Case Reports Pub Date : 2025-01-28 DOI: 10.1016/j.bdcasr.2025.100062

Shinji Harada , Masahiro Nishiyama , Mao Mizuta , Masaki Shimizu , Azusa Maruyama , Hiroshi Kurosawa , Yasuo Nakagishi

{"title":"Hemorrhagic shock and encephalopathy syndrome with hemophagocytic lymphohistiocytosis pathology caused by cytomegalovirus infection","authors":"Shinji Harada , Masahiro Nishiyama , Mao Mizuta , Masaki Shimizu , Azusa Maruyama , Hiroshi Kurosawa , 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}

引用次数: 0

CACNA1A-related familial hemiplegic migraine presenting with prolonged impaired consciousness

Brain and Development Case Reports Pub Date : 2025-01-25 DOI: 10.1016/j.bdcasr.2025.100063

Mami Akamatsu , Gen Furukawa , Masayuki Hirai , Midori Yamada , Ayami Yoshikane , Naoko Ishihara , Hiroki Kurahashi , Tetsushi Yoshikawa

{"title":"CACNA1A-related familial hemiplegic migraine presenting with prolonged impaired consciousness","authors":"Mami Akamatsu , Gen Furukawa , Masayuki Hirai , Midori Yamada , Ayami Yoshikane , Naoko Ishihara , Hiroki Kurahashi , 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}

引用次数: 0

Examination of two cases with severe motor and intellectual disabilities who died due to acute pancreatitis and review of the literature

Brain and Development Case Reports Pub Date : 2025-01-17 DOI: 10.1016/j.bdcasr.2024.100061

Shungo Fujiki , Emiko Kobayashi , Kuniko Tokoro , Sotaro Yuzawa , Eiji Matsukuma , Atsushi Imamura , Hideo Kaneko

{"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 , Emiko Kobayashi , Kuniko Tokoro , Sotaro Yuzawa , Eiji Matsukuma , Atsushi Imamura , 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}

引用次数: 0

A boy with drug-resistant epilepsy and aortopulmonary collateral arteries arising from a KCNT1 variant

Brain and Development Case Reports Pub Date : 2025-01-13 DOI: 10.1016/j.bdcasr.2024.100060

Kentaro Okada , Takaaki Sawada , Shiro Ozasa , Keiko Nomura , Natsumi Fujiyama , Shoichiro Kusunoki , Kotaro Anan , Fumiya Miyamura , Osamu Matsuo , Yuta Inoue , Naomi Tsuchida , Naomichi Matsumoto , Kimitoshi Nakamura

{"title":"A boy with drug-resistant epilepsy and aortopulmonary collateral arteries arising from a KCNT1 variant","authors":"Kentaro Okada , Takaaki Sawada , Shiro Ozasa , Keiko Nomura , Natsumi Fujiyama , Shoichiro Kusunoki , Kotaro Anan , Fumiya Miyamura , Osamu Matsuo , Yuta Inoue , Naomi Tsuchida , Naomichi Matsumoto , 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>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}

引用次数: 0

Mosaic trisomy 12 – A case of a rare phenotypic association and literature review

Brain and Development Case Reports Pub Date : 2025-01-08 DOI: 10.1016/j.bdcasr.2024.100058

Greta Senkeviciute , Evelina Dagyte , Vytautas Sliuzas , Skaiste Peciuliene , Birute Burnyte

{"title":"Mosaic trisomy 12 – A case of a rare phenotypic association and literature review","authors":"Greta Senkeviciute , Evelina Dagyte , Vytautas Sliuzas , Skaiste Peciuliene , 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}

引用次数: 0

Novel m.3764C>G variant in MT-ND1 linked to severe MELAS syndrome: A case report

Brain and Development Case Reports Pub Date : 2025-01-06 DOI: 10.1016/j.bdcasr.2024.100059

Teona Shatirishvili , Zura Katsitadze , Yi Shiau Ng , Ashwin Achuthaprasad , Charlotte L. Alston , Emma L. Blakey , Douglass M. Turnbull , Kakha Bregvadze , Tinatin Tkemaladze , Nana Nino Tatishvili

{"title":"Novel m.3764C>G variant in MT-ND1 linked to severe MELAS syndrome: A case report","authors":"Teona Shatirishvili , Zura Katsitadze , Yi Shiau Ng , Ashwin Achuthaprasad , Charlotte L. Alston , Emma L. Blakey , Douglass M. Turnbull , Kakha Bregvadze , Tinatin Tkemaladze , 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>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>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>G variant in <em>MT-ND1</em>.</div></div><div><h3>Discussion/Conclusion</h3><div>Presented case highlights the novel m.3764C>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}

引用次数: 0

Vigabatrin efficacy in focal cortical dysplasia type II with refractory focal status epilepticus, suspected role of mTOR inhibition

Brain and Development Case Reports Pub Date : 2024-12-13 DOI: 10.1016/j.bdcasr.2024.100055

Safoura Kowkabi , Zahra Rezaei , Reza Kaboodkhani , Parvin Ghaemmaghami , Mohammad Kaboodkhani

{"title":"Vigabatrin efficacy in focal cortical dysplasia type II with refractory focal status epilepticus, suspected role of mTOR inhibition","authors":"Safoura Kowkabi , Zahra Rezaei , Reza Kaboodkhani , Parvin Ghaemmaghami , 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}

引用次数: 0