Brain and Development Case Reports最新文献

{"title":"An infantile case of Guillain-Barré syndrome mimicking infant botulism exhibiting ptosis: A case report","authors":"Momoka Natsume,&nbsp;Takeshi Suzuki,&nbsp;Shotaro Ando,&nbsp;Toru Kato","doi":"10.1016/j.bdcasr.2026.100126","DOIUrl":"10.1016/j.bdcasr.2026.100126","url":null,"abstract":"<div><h3>Background</h3><div>Guillain-Barré syndrome (GBS) and botulism primarily manifest as acute flaccid paralysis; thus, differentiating between these two conditions is challenging. However, reports describing this case in infants are rare. Herein, we report a rare case of infantile GBS with ptosis that was initially suspected to be infant botulism (IB).</div></div><div><h3>Case presentation</h3><div>An 11-month-old boy presented with intermittent exotropia and was unable to stand with support. The patient also experienced constipation, ptosis, flaccid paralysis of both lower limbs, and loss of deep tendon reflexes within several days of admission. Brain MRI and cerebrospinal fluid (CSF) examination on day 3 were normal. Given the presence of ptosis and constipation, in addition to generalized hypotonia, IB was suspected. However, the stool botulinum toxin test results were negative. Repetitive nerve stimulation performed during evoked electromyography showed no waxing, and nerve conduction studies revealed the absence of F-waves in the lower limbs. Repeat CSF analysis on day 13 revealed albuminocytological dissociation. Anti-GM1 and anti-GQ1b IgG antibodies were positive. Based on these findings and the clinical symptoms, a final diagnosis of GBS was made. Without any specific treatment, his muscle strength and tone gradually improved from day 7. He was discharged on day 20. Motor development remained normal, with independent walking achieved within 15 months of age.</div></div><div><h3>Conclusion</h3><div>This case highlights that infantile GBS may present with ptosis and mimic IB. Accurate diagnosis requires the synthesis of various clinical information, including the results of repeated CSF tests, neurophysiological studies, and analyses of toxins and anti-ganglioside antibodies.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100126"},"PeriodicalIF":0.0,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145977161","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":"Challenges and potential of an early lysine-restricted diet for pyridoxine-dependent epilepsy: A case report","authors":"Kaori Aiba ,&nbsp;Tomoyuki Akiyama ,&nbsp;Takao Togawa ,&nbsp;Shinji Saitoh","doi":"10.1016/j.bdcasr.2026.100125","DOIUrl":"10.1016/j.bdcasr.2026.100125","url":null,"abstract":"<div><h3>Background</h3><div>Pyridoxine-dependent epilepsy (PDE) is caused by biallelic disease-associated variants in the <em>ALDH7A1</em> gene, leading to the accumulation of neurotoxic intermediates such as α-aminoadipic semialdehyde (α-AASA), despite adequate seizure control with pyridoxine. This accumulation is thought to contribute to intellectual and developmental impairments.</div></div><div><h3>Case presentation</h3><div>We report a case of PDE in a Japanese patient for whom a lysine-restricted diet involving a lysine- and tryptophan-free amino acid formula was introduced from early infancy. In this case, maternal pyridoxine treatment was also initiated prenatally. After birth, the patient was started on this formula together with oral arginine supplementation. The patient's serum α-AASA and pipecolic acid levels initially decreased following dietary intervention but gradually increased with age. Despite early diagnosis and treatment, the patient exhibited a significant delay in expressive language and a moderate delay in motor development, whereas other developmental domains remained within the normal to borderline range. Importantly, no clinical seizures have occurred since birth.</div></div><div><h3>Conclusion</h3><div>This is the first report of a Japanese patient with PDE who was treated with a lysine-restricted diet from infancy and whose clinical outcome was followed until 4 years of age. Although such dietary management may contribute to metabolic control, it requires sustained commitment and substantial effort from the family. Early diagnosis and timely initiation of treatment are critical for optimizing developmental outcomes. More case-based data and practical guidance on dietary adaptation are needed to improve long-term care strategies for PDE.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100125"},"PeriodicalIF":0.0,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145977162","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":"New onset of juvenile dermatomyositis after COVID-19 infection in two patients: a case report","authors":"Kumiko Ishiguro ,&nbsp;Takayuki Kishi ,&nbsp;Kentaro Sano ,&nbsp;Minobu Shichiji ,&nbsp;Takatoshi Sato ,&nbsp;Keiko Ishigaki ,&nbsp;Satoru Nagata","doi":"10.1016/j.bdcasr.2025.100123","DOIUrl":"10.1016/j.bdcasr.2025.100123","url":null,"abstract":"<div><h3>Background</h3><div>Coronavirus disease 2019 (COVID-19) has been linked to the production of various autoantibodies and the development of autoimmune diseases. Severe acute respiratory syndrome coronavirus (SARS-CoV)-2 infection may induce myositis, and several adult cases of dermatomyositis following COVID-19 have been reported. However, reports of juvenile dermatomyositis (JDM) following COVID-19 have been scarce.</div></div><div><h3>Case presentation</h3><div>We herein detail our experience with the management of two patients who developed JDM following COVID-19 infection. Patient 1 was a 4-year-old boy who developed muscle weakness following COVID-19 infection, which progressed to a rash, continuous fever, and muscle weakness severe enough to render him unable to stand or sit independently. He was subsequently diagnosed with JDM complicated by interstitial pneumonia and was treated with methylprednisolone, oral prednisolone, cyclosporine, and cyclophosphamide, which significantly ameliorated his symptoms within 3 months. Patient 2 was a 13-year-old girl who developed progressive muscle weakness following COVID-19 infection. Physical examination revealed proximal muscle weakness and joint contractures, whereas blood tests showed normal creatine kinase levels but slightly elevated aldolase levels. She was subsequently diagnosed with JDM and treated with methylprednisolone and cyclosporine, which significantly reduced her symptoms.</div></div><div><h3>Discussion</h3><div>These patients highlight the potential link between SARS-CoV-2 infection and the onset of JDM, with the proposed mechanisms including molecular mimicry, bystander activation, and excessive type I interferon production.</div></div><div><h3>Conclusion</h3><div>COVID-19 may act as a trigger for JDM onset, warranting awareness and further investigation into this association.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100123"},"PeriodicalIF":0.0,"publicationDate":"2026-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145938338","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":"Fulminant central demyelinating lesions associated with infliximab treatment in a child with Crohn's disease: A case report","authors":"Azusa Ikeda ,&nbsp;Megumi Tsuji ,&nbsp;Yuta Fujii ,&nbsp;Noriko Aida ,&nbsp;Tomohide Goto","doi":"10.1016/j.bdcasr.2025.100124","DOIUrl":"10.1016/j.bdcasr.2025.100124","url":null,"abstract":"<div><h3>Background</h3><div>Infliximab is a tumor necrosis factor alpha (TNFα) inhibitor used for treating rheumatic disorders, inflammatory bowel disease, and other conditions. Despite the recent increase in reports of central demyelinating lesions associated with the use of TNFα inhibitors, most cases have been observed in adults with gradual onset and only mild neurological sequelae. We report a pediatric case of fulminant demyelinating lesions associated with infliximab administration.</div></div><div><h3>Case presentation</h3><div>Our patient was an 8-year-old male diagnosed with ileocolonic Crohn's disease. Around 6 h after his second infliximab administration, he developed headache, eye pain, nausea, and loss of consciousness. He was subsequently intubated due to respiratory depression. Brain magnetic resonance imaging revealed a prominent mass effect in the pons with diffusion restriction extending from the brain stem to the cervical spinal cord, as well as scattered lesions in the deep gray matter and cerebral hemispheres with hemorrhage. The lesion distribution was similar to that of acute disseminated encephalomyelitis (ADEM). Furthermore, the rapid progression of symptoms and intracerebral bleeding were consistent with those observed in acute hemorrhagic leukoencephalitis, a severe variant of ADEM. Despite performing plasma exchange and steroid pulse therapy, the patient remained unconscious with quadriplegia and severe brainstem dysfunction and was maintained on tracheostomy-based ventilation.</div></div><div><h3>Conclusion</h3><div>Although extremely rare, central demyelinating lesions associated with TNFα inhibitors can develop among pediatric cases. Clinicians should therefore be aware of the possibility of a fulminant course in children.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100124"},"PeriodicalIF":0.0,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145884217","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":"Axonal polyneuropathy and intellectual disability caused by biallelic NEMF variants identified by reviewing the previously acquired whole exome sequencing data: A case report","authors":"Konomi Shimoda ,&nbsp;Shota Kato ,&nbsp;Yuki Taniguchi ,&nbsp;Yutaka Harita ,&nbsp;Masashi Mizuguchi ,&nbsp;Motohiro Kato","doi":"10.1016/j.bdcasr.2025.100122","DOIUrl":"10.1016/j.bdcasr.2025.100122","url":null,"abstract":"<div><h3>Background</h3><div>Biallelic loss-of-function variants in the nuclear export mediator factor (<em>NEMF</em>) gene are associated with a rare autosomal recessive neuropathy characterized by motor-predominant axonal polyneuropathy and variable intellectual disability. Since its first report in 2017, most cases have been described in individuals of Middle Eastern origin.</div></div><div><h3>Case presentation</h3><div>We describe a Japanese boy with infantile-onset chronic motor axonal polyneuropathy and mild intellectual delay. Muscle weakness gradually progressed from distal to proximal muscles. Intravenous immunoglobulin (IVIG) therapy resulted in only partial and temporary improvement. By age five, he became non-ambulatory and required intermittent ventilatory support. Whole-exome sequencing (WES) performed in 2016 failed to identify a genetic diagnosis. However, reanalysis of the same WES data in 2022 revealed two biallelic pathogenic splice-site variants in the <em>NEMF</em> gene—c.945+1delG (maternal) and c.2929-2A&gt;G (paternal)—both predicted to cause aberrant splicing and premature translation termination. RNA analysis confirmed these findings. Public transcriptomic data from <em>NEMF</em>-knockdown cells revealed upregulation of immune-related gene sets, potentially explaining the transient response to IVIG.</div></div><div><h3>Conclusion</h3><div>This is the first reported case of <em>NEMF</em>-related neuropathy in East Asia. Our findings suggest that immune dysregulation may contribute to the disease mechanism in some cases. Furthermore, this case illustrates that in some rare diseases, reviewing previous next-generation sequencing (NGS) data that initially yielded no significant findings may lead to diagnostic success, thanks to the rapidly expanding body of knowledge on genotype–phenotype correlations. Periodic reinterpretation of genomic data can therefore be a valuable strategy in undiagnosed rare conditions.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100122"},"PeriodicalIF":0.0,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145840324","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":"Electroclinical correlates of seizures and episodic dystonia in a neonate with primary coenzyme Q10 deficiency due to COQ4 mutations","authors":"Ho-Eun Kang ,&nbsp;Chung-Ming Chen ,&nbsp;Rai-Hseng Hsu ,&nbsp;Hsi Chang ,&nbsp;Yi-Yu Su ,&nbsp;Min-Lan Tsai","doi":"10.1016/j.bdcasr.2025.100121","DOIUrl":"10.1016/j.bdcasr.2025.100121","url":null,"abstract":"<div><h3>Background</h3><div>Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder caused by pathogenic variants in the <em>COQ4</em> gene. Patients with neonatal onset biallelic <em>COQ4</em> variants typically present with hypertrophic cardiomyopathy, encephalopathy, hypotonia, seizures, and lactic acidosis.</div></div><div><h3>Case report</h3><div>A female neonate born at 38 weeks and 5 days of gestation presented with frequent apneic episodes, early respiratory distress, and hypertrophic cardiomyopathy shortly after birth. Long-term video EEG monitoring revealed electroclinical findings including multifocal refractory seizures, electrographic seizures, involuntary movements, and episodic dystonia. Multiple anti-seizure medications were administered; however, the episodic dystonia persisted. At 22 days of age, the patient was diagnosed with primary CoQ10 deficiency, due to <em>COQ4</em> mutations. Whole exome sequencing identified compound heterozygous mutations with a maternally inherited missense mutation, c.370G&gt;A, p.(Gly124Ser), and a paternally inherited splicing mutation, c.402+1G&gt;A. Following treatment with high-dose CoQ10, carnitine, and supportive care, the patient demonstrated improved feeding and spontaneous breathing, allowing discontinuation of ventilatory support. However, after transitioning to comfort care, the patient died of respiratory failure.</div></div><div><h3>Conclusion</h3><div>This case highlights the broad neurological phenotype associated with <em>COQ4</em>-related primary CoQ10 deficiency, presenting with a wide range of symptoms including apnea, multifocal refractory seizures, and notably, abnormal dystonic movements. Episodic dystonia is a rare manifestation, and to date, it has not been reported as a clinical sign in neonatal-onset <em>COQ4</em>-related disease. Long-term video EEG monitoring helps clarify the differentiation among apnea, dystonic movements, and seizures, facilitating precise treatment in conjunction with CoQ10 supplementation.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100121"},"PeriodicalIF":0.0,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145748809","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 neurodevelopmental impairment in a child with PAX2-related renal Coloboma syndrome: A case report and literature review","authors":"Mai Kawamura ,&nbsp;Takeshi Matsushige ,&nbsp;Fumitaka Kohno ,&nbsp;Yusuke Okada ,&nbsp;Hikaru Kobayashi ,&nbsp;Akinori Furusawa ,&nbsp;Mayu Inohara ,&nbsp;Madoka Hoshide ,&nbsp;Setsuaki Kittaka ,&nbsp;Naoya Morisada ,&nbsp;Kandai Nozu ,&nbsp;Shunji Hasegawa","doi":"10.1016/j.bdcasr.2025.100116","DOIUrl":"10.1016/j.bdcasr.2025.100116","url":null,"abstract":"<div><h3>Background</h3><div><em>PAX2</em>-related disorders, also known as renal coloboma syndrome, are typically characterized by renal and ocular abnormalities. Although <em>PAX2</em> expression in the developing central nervous system has been reported, severe neurodevelopmental complications remain rare.</div></div><div><h3>Case presentation</h3><div>We report the case of a male infant referred at 17 months for evaluation of psychomotor developmental delay. He exhibited impaired social interaction, poor eye contact, limited verbal communication, irritability, and feeding difficulties. Renal ultrasonography revealed mild structural abnormalities, and ophthalmological evaluation showed optic nerve anomalies. Genetic analysis identified a novel heterozygous two-base-pair deletion in exon 2 of <em>PAX2</em> (c.193_194del, p.Val65GlnfsTer36), inherited from his father, who had renal hypoplasia and subtle optic nerve findings. Over time, the patient developed persistent features of autism spectrum disorder and severe developmental delay, although renal function remained stable.</div></div><div><h3>Conclusion</h3><div>This case expands the phenotypic spectrum of <em>PAX2</em>-related disorders and suggests a potential link to severe neurodevelopmental involvement. Further research is needed to clarify the mechanisms underlying <em>PAX2</em>-associated neurodevelopmental phenotypes.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100116"},"PeriodicalIF":0.0,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145748549","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 ROHHAD-NET syndrome with severe sleep-related respiratory distress: A case report","authors":"Yudai Hirakawa ,&nbsp;Masanori Nishi ,&nbsp;Naoya Higuchi ,&nbsp;Hiroi Eguchi ,&nbsp;Takuji Nakamura ,&nbsp;Yuya Ito ,&nbsp;Takaharu Yamada ,&nbsp;Masafumi Sanefuji ,&nbsp;Akari Nakamura-Utsunomiya ,&nbsp;Muneaki Matsuo","doi":"10.1016/j.bdcasr.2025.100118","DOIUrl":"10.1016/j.bdcasr.2025.100118","url":null,"abstract":"<div><h3>Background</h3><div>Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare pediatric disorder often associated with neuroendocrine tumors (ROHHAD-NET). Recent studies have identified serum anti-ZSCAN1 antibodies in most patients, suggesting an autoimmune paraneoplastic neurological syndrome. Respiratory complications, particularly sleep-related hypoventilation, contribute to high mortality rates. Although immunomodulatory therapies have been attempted, their efficacy is limited.</div></div><div><h3>Case presentation</h3><div>A 2-year-old girl presented with rapid weight gain, hypothalamic dysfunction, autonomic abnormalities, and severe sleep-related hypoventilation. The patient developed intermittent strabismus, hyperphagia, and behavioral changes over 4 months. Imaging revealed a retroperitoneal paravertebral mass, which was pathologically diagnosed as ganglioneuroma. Laboratory findings revealed central hypothyroidism, growth hormone deficiency, hyperprolactinemia, and markedly elevated serum anti-ZSCAN1 antibody levels. Following admission, the patient experienced apnea, airway obstruction, excessive secretions, and wheezing during sleep, requiring mechanical ventilation. Immunotherapies, including plasma exchange, high-dose intravenous immunoglobulin, methylprednisolone pulse, rituximab, mycophenolate mofetil, and intrathecal methotrexate, improve appetite, behavior, and neuropsychiatric symptoms. Cerebrospinal fluid oligoclonal bands were negative, indicating partial immunological remission; however, sleep-related hypoventilation persisted. After discharge, the patient experienced sudden respiratory arrest during sleep and died despite resuscitation.</div></div><div><h3>Conclusion</h3><div>This case highlights that, ROHHAD-NET, autonomic dysfunction may cause complex sleep-related respiratory failure beyond simple obstructive or central hypoventilation. Elevated anti-ZSCAN1 antibody titers may be correlated with earlier disease onset and severity. Early recognition, aggressive immunomodulation, and consideration of ventilatory support are essential to prevent sudden deaths. Anti-ZSCAN1 antibodies may serve as useful biomarkers for the diagnosis and treatment of ROHHAD-NETs.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100118"},"PeriodicalIF":0.0,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145694285","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":"Impact of high-dose vitamins on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","authors":"Hiroaki Ono ,&nbsp;Jun Kido ,&nbsp;Shiro Matsumoto","doi":"10.1016/j.bdcasr.2025.100117","DOIUrl":"10.1016/j.bdcasr.2025.100117","url":null,"abstract":"<div><h3>Background</h3><div>Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive metabolic disorder caused by a mutation of <em>SLC25A15</em> encoding for the mitochondrial ornithine carrier. Recent study suggested that impaired mitochondrial function may play a major role in central nervous system impairment in HHH syndrome. We hypothesized that if the mitochondrial dysfunction was associated with neurological impairment in HHH syndrome, antioxidants might be effective to avoid aggravation of the brain injury. We presented the clinical outcome in a patient with HHH syndrome undergoing a high-dose vitamin treatment and discussed the effect of this treatment.</div></div><div><h3>Case presentation</h3><div>The male patient was definitively diagnosed by compound heterogeneous pathogenic variants in the <em>SLC25A15</em> gene. He was started vitamin B1, C and E therapy at age of 3 years. The blood lactate (Lac) levels gradually decreased and serum β-hydroxybutyrate/acetoacetate (β-OHB/AcAc) ratio also decreased at age of 7 years. A verbal development score in Kyoto Scale of Psychological Development was 65 at age of 3 years. However, quotient of Verbal Comprehension Index in Wechsler Intelligence Scale for Children<strong>-</strong>Fourth Edition increased to 109 at age of 7 years during this vitamin therapy.</div></div><div><h3>Discussion</h3><div>The outcome in our patient suggested that high-dose vitamin therapy might contribute to preventing cognitive disability. Moreover, the decreased blood Lac level and serum β-OHB/AcAc ratio also suggested that the effect of this therapy might be due to improving the mitochondrial function such as citric acid cycle<em>.</em> This case report suggest that the high-dose vitamin therapy may enhance mitochondrial function in HHH syndrome.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100117"},"PeriodicalIF":0.0,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145610465","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}