Brain and Development Case Reports最新文献

{"title":"Efficacy of combined treatment with a wearable cyborg hybrid assistive limb and intrathecal baclofen therapy in a pediatric patient with spastic paraplegia","authors":"Tomoyuki Masuda ,&nbsp;Ryota Nishikawa ,&nbsp;Takenori Natsume ,&nbsp;Masahisa Komatsu ,&nbsp;Motomu Maruyama ,&nbsp;Sayaka Sato ,&nbsp;Saki Otao ,&nbsp;Masaru Nasuno ,&nbsp;Shihoko Takeuchi ,&nbsp;Maki Shirai ,&nbsp;Mitsuo Motobayashi ,&nbsp;Yuka Misawa ,&nbsp;Yosuke Miyairi ,&nbsp;Yuji Inaba","doi":"10.1016/j.bdcasr.2024.100053","DOIUrl":"10.1016/j.bdcasr.2024.100053","url":null,"abstract":"<div><h3>Background</h3><div>Hybrid Assistive Limb (HAL) is a movement support robot that assists the walking function of patients with diseases causing muscle weakness in the lower limbs.</div><div>Intrathecal baclofen (ITB) therapy exerts positive effects on muscle tone in children with severe spasticity who have difficulty walking.</div><div>The present case report describes a child with spastic paraplegia who underwent intensive robotic rehabilitation with HAL and combined ITB therapy.</div></div><div><h3>Case</h3><div>A 14-year-old boy with spastic paraplegia from Pelizaeus-Merzbacher disease was undergoing treatment with oral muscle relaxants and botulinum toxin A. However, the medications were ineffective and his spasticity was progressing. A baclofen infusion pump was implanted with the catheter tip at the T10 level and ITB therapy was started. A regimen of 12.5 μg/day dose of baclofen was administered and his spasticity of limbs and trunk were attenuated. Walking practice using HAL was performed under spasticity relief by ITB therapy and gait function and patterns, excluding endurance, were improved. The attenuation of spasticity by ITB therapy made “Lying, Rolling and Sitting” easier for the patient, but may have affected “Standing”, which was supported using spasticity, and also affected the Caregiver Assistance Scale of the Mobility domain of the Pediatric Evaluation of Disability Inventory (PEDI). While, the amount of assistance required for the Activities of Daily Living (ADLs) related to self-care and the overall caregiver burden both decreased.</div></div><div><h3>Conclusion</h3><div>This is the first case report to demonstrate the efficacy and safety of combined ITB therapy and HAL rehabilitation in an ambulatory pediatric patient.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100053"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744319","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":"Use of assessment for neuropathic pain in MOGAD","authors":"Shimpei Matsuda,&nbsp;Shino Shimada,&nbsp;Takato Akiba,&nbsp;Mitsuru Ikeno,&nbsp;Shimpei Abe,&nbsp;Toshiaki Shimizu","doi":"10.1016/j.bdcasr.2024.100054","DOIUrl":"10.1016/j.bdcasr.2024.100054","url":null,"abstract":"<div><h3>Background</h3><div>Myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) is a central inflammatory autoimmune disease primarily characterized by demyelination of the myelin oligodendrocyte glycoprotein and neuronal damage caused by inflammatory cell infiltration. While many studies have reported pain in adult patients with MOGAD, few have reported pain in pediatric patients.</div></div><div><h3>Case report</h3><div>An 8-year-old girl developed repeated focal to bilateral tonic-clonic seizures preceded by episodes of falling. Based on the seizures, electroencephalographic and brain MRI findings, and positive anti-MOG antibodies in the blood and cerebrospinal fluid, she was diagnosed with unilateral cortical fluid-attenuated inversion recovery (FLAIR)-hyperintense lesions in anti-MOG-associated encephalitis with seizures (FLAMES). Although the contrast-enhanced spinal MRI showed no abnormalities, she exhibited Lhermitte's sign and neuropathic pain, implying myelitis as a complication. Neuropathic pain was retrospectively assessed using two questionnaires (PainDETECT and Short-Form McGill Pain Questionnaire-2).</div></div><div><h3>Conclusions</h3><div>We report a case of unilateral cortical encephalitis with suspected myelitis on the MOGAD spectrum. For the assessment of neuropathic pain, the modified questionnaires enabled the quantitative and qualitative evaluation of pediatric MOGAD-related pain.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100054"},"PeriodicalIF":0.0,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142705510","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":"Long-term use of efgartigimod alfa in treating a young adult with childhood-onset systemic lupus erythematosus and generalized myasthenia gravis","authors":"Koji Nagatani,&nbsp;Masatoshi Hayashi","doi":"10.1016/j.bdcasr.2024.100052","DOIUrl":"10.1016/j.bdcasr.2024.100052","url":null,"abstract":"<div><h3>Background</h3><div>Patientis with myasthenia gravis (MG) are at increased risk of other autoimmune disorders, such as systemic lupus erythematosus (SLE). The neonatal Fc receptor (FcRn) antagonist, efgartigimod alfa (EFG-α), is effective in generalized MG (gMG) by a mechanism that decreases levels of IgG, including pathological autoantibodies. Although approved in Japan for gMG in 2022, its efficacy for other autoimmune disorders and the effects of long-term use of EFG-α for gMG in children and young adults remain to be elucidated.</div></div><div><h3>Case</h3><div>A 10-year-old girl diagnosed with SLE developed gMG 2 years later. Despite intensive therapy, she also had myasthenic crisis and two recurrences. Moreover, the anti-acetylcholine receptor (AChR) antibody titer remained high, making it difficult to reduce the prednisolone (PSL) dose to below 12.5 mg/day. Eight years later, she had a flare of SLE and was treated with pulse methylprednisolone followed by EFG-α to reduce the PSL dose. A total of six cycles of EFG-α (10 mg/kg) were administered, with four infusions per cycle (one infusion per week) over a period of one and a half years. Consequently, the quantitative MG (QMG) score, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), and anti-double-stranded DNA (dsDNA) antibody titer remained low. Furthermore, the prolonged administration of EFG-α resulted in a reduction in the dosage of prednisolone, which led to improvement in the patient's obesity.</div></div><div><h3>Conclusion</h3><div>EFG-α may be effective not only for MG but also for SLE, maintaining low disease activity and antibody levels. Long-term use could reduce steroid requirement, and thus decrease adverse effects. Expanding the indication of EFG-α to other autoimmune diseases and considering its use in pediatric patients are recommended.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100052"},"PeriodicalIF":0.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142655293","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":"Successful coil embolization for treatment of systemic to pulmonary collateral arteries (SPCAs): A case report among series of six cases with KCNT1-epilepsy and literature reviews","authors":"Tanitnun Paprad ,&nbsp;Wuttichart Kamolvisit ,&nbsp;Chupong Ittiwut ,&nbsp;Chureerat Phokaew ,&nbsp;Sarin Lekchuensakul ,&nbsp;Sirorat Suwannachote ,&nbsp;Kamornwan Katanyuwong ,&nbsp;Chanikhan Sattaporn ,&nbsp;Apasri Lusawat ,&nbsp;Tayard Deesudchit ,&nbsp;Ponghatai Boonsimma ,&nbsp;Kanya Suphapeetiporn ,&nbsp;Vorasuk Shotelersuk","doi":"10.1016/j.bdcasr.2024.100049","DOIUrl":"10.1016/j.bdcasr.2024.100049","url":null,"abstract":"<div><h3>Background</h3><div>KCNT1 pathogenic variants are associated with a broad range of neurological and non-neurological phenotypes. Neurologically, these variants are known to cause several epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant sleep-related hypermotor epilepsy (SHE). A potentially fatal cardiovascular phenotype, systemic to pulmonary collateral arteries (SPCAs), has also been suggested as part of the spectrum associated with <em>KCNT1</em> mutations.</div></div><div><h3>Case presentation</h3><div>We describe a patient with <em>KCNT1</em>-associated epilepsy who was found to have SPCAs in a cohort of six Thai cases. The SPCAs were successfully treated with coil embolization.</div></div><div><h3>Results</h3><div>In this cohort, the prevalence of SPCAs in Thai patients with KCNT1-associated epilepsy is estimated to be 16.7 % (1 out of 6). Quinidine therapy was effective in 83 % (5 out of 6) of the reported cases.</div></div><div><h3>Discussion</h3><div>The presence of SPCAs as part of the KCNT1-associated disorder highlights the importance of recognizing cardiovascular phenotypes in these patients. Early identification and intervention, such as coil embolization, can be life-saving.</div></div><div><h3>Conclusion</h3><div>Awareness of SPCAs as a possible cardiac phenotype in <em>KCNT1</em>-associated epilepsy is crucial, as timely and effective treatment can significantly improve patient outcomes.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100049"},"PeriodicalIF":0.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142655292","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":"Reversible bilateral ptosis after levetiracetam administration in a 4-year-old girl: A case report","authors":"Takato Akiba ,&nbsp;Taiki Shima ,&nbsp;Shino Shimada ,&nbsp;Mitsuru Ikeno ,&nbsp;Shinpei Abe ,&nbsp;Ken Takahashi","doi":"10.1016/j.bdcasr.2024.100051","DOIUrl":"10.1016/j.bdcasr.2024.100051","url":null,"abstract":"<div><h3>Background</h3><div>Levetiracetam (LEV) is a frequently prescribed antiseizure medication for focal epilepsy in children because of its high efficacy and relatively mild side effects. We report a case of reversible bilateral ptosis following LEV administration.</div></div><div><h3>Case presentation</h3><div>A 4-year-old girl presented with unprovoked focal to bilateral tonic-clonic seizures, which had occurred at least twice since the age of 3 years and 10 months. The patient was initially diagnosed with focal epilepsy, and was treated with LEV at a dose of 20 mg/kg/day. After one week of treatment, the patient developed bilateral ptosis without diurnal fluctuation. After a month, LEV was discontinued and the patient's treatment was changed to perampanel. Various tests were performed to rule out myasthenia gravis; however, no significant findings were observed. The patient's ptosis gradually improved over the three months following the cessation of LEV.</div></div><div><h3>Conclusion</h3><div>Although an exact causal relationship is challenging, the clinical course suggests that LEV may induce ptosis in patients with focal epilepsy. Herein, we report detailed clinical information because ptosis is not a known side effect of LEV treatment; therefore, understanding this newfound side effect is important given the widespread use of LEV.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100051"},"PeriodicalIF":0.0,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142655291","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":"Transmantle heterotopia associated with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in an adolescent male patient","authors":"Sachiho Saito ,&nbsp;Toshiki Nakamura ,&nbsp;Aki Kawakami ,&nbsp;Sahoko Miyama ,&nbsp;Mikako Enokizono ,&nbsp;Tatsuo Kono ,&nbsp;Hiroshi Hataya","doi":"10.1016/j.bdcasr.2024.100047","DOIUrl":"10.1016/j.bdcasr.2024.100047","url":null,"abstract":"<div><h3>Background</h3><div>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common type of acute encephalopathy. It occurs frequently in infants but rarely in teenagers. More than half of patients with AESD have neurological sequelae, but there are few, evidence-based treatments. Transmantle heterotopia is a rare type of gray matter heterotopia. We report herein a case of transmantle heterotopia with suspected involvement in AESD.</div></div><div><h3>Case report</h3><div>A 10-year-old, male patient with developmental disabilities and a history of multiple febrile seizures was admitted for fever and convulsion. On day 2 of the fever, he experienced six, intermittent convulsions over three hours despite antiepileptic drug administration. On admission, he had impaired consciousness and was positive for influenza virus type B. Other examinations, including brain CT, found no abnormalities. After admission, targeted temperature management (TTM) and vitamin, antibiotic, and oseltamivir therapy was begun. The patient experienced a prolonged state of impaired consciousness, prompting MRI to be performed on hospital day 6. Brain MRI findings suggested AESD and transmantle heterotopia. His consciousness status gradually improved, and he was able to perform gross motor activities and engage in simple conversation. He was discharged after valproic acid administration was begun. Two months after discharge, the patient displayed heightened impulsivity.</div></div><div><h3>Conclusion</h3><div>The present case of transmantle heterotopia was strongly suspected of being involved in the development of febrile status epilepticus and AESD. Children with underlying neurological disorders can experience AESD development even if they are older than the usually affected aged group.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100047"},"PeriodicalIF":0.0,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142587312","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":"Coagulopathy by vitamin K deficiency: Clinical pitfall in a case with cerebral palsy under long-term enteral nutrition","authors":"Mariko Yada,&nbsp;Tomoyo Itonaga,&nbsp;Saori Oguri,&nbsp;Yuka Kimura,&nbsp;Kenji Ihara","doi":"10.1016/j.bdcasr.2024.100050","DOIUrl":"10.1016/j.bdcasr.2024.100050","url":null,"abstract":"<div><h3>Background</h3><div>Vitamin K deficiency is common in patients with neurological impairment under long-term enteral nutrition; however, reports of vitamin K deficiency in pediatric patients under long-term enteral nutrition remain limited, and critical conditions potentially leading to coagulopathy have not been sufficiently acknowledged by healthcare professionals.</div></div><div><h3>Case presentation</h3><div>We report the case of a seven-year-old girl with severe cerebral palsy who had received enteral nutrition via a nasoduodenal tube due to recurrent acute pancreatitis that had persisted for six months, and who had received an elemental diet for seven weeks prior to her presentation. After two days of cefmetazole treatment for urinary tract infection, abnormal coagulation findings, including a prolonged prothrombin time, activated partial thromboplastin time, and elevated levels of protein induced by vitamin K absence or antagonist-II, were detected. The patient's hypoprothrombinemia improved after the intravenous administration of vitamin K and switching antibiotics. From a retrospective point of view, her intake of vitamin K over the past six months was below the recommended amount for her age.</div></div><div><h3>Conclusions</h3><div>Long-term enteral nutrition is associated with an increased risk of coagulopathy due to vitamin K deficiency, which can be precipitated by prolonged use of antibacterial agents. When long-term enteral nutrition is given to patients with severe motor or intellectual disabilities, caution should be exercised when using antibiotics with NMTT side chains.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100050"},"PeriodicalIF":0.0,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142587313","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":"Opportunistic infections associated with extremely low-dose adrenocorticotropic hormone therapy: Two cases of Legionella and Pneumocystis carinii pneumonia","authors":"Azusa Ikeda ,&nbsp;Megumi Tsuji ,&nbsp;Hiroyuki Nagafuchi ,&nbsp;Yukiko Kuroda ,&nbsp;Kenji Kurosawa ,&nbsp;Tomohide Goto","doi":"10.1016/j.bdcasr.2024.100046","DOIUrl":"10.1016/j.bdcasr.2024.100046","url":null,"abstract":"<div><h3>Background</h3><div>Adrenocorticotropic hormone (ACTH) therapy, the first-line treatment for infantile spasms, is known to dose-dependently increase incidences of infectious diseases. Extremely low-dose ACTH therapy is considered safe, and there have been no reports of opportunistic or other serious infections associated with this therapy. Herein, we report two cases of <em>Legionella</em> and <em>Pneumocystis carinii</em> pneumonia associated with extremely low-dose ACTH therapy.</div></div><div><h3>Case presentation</h3><div>Patient 1 with <em>PIGA</em> variant was administered extremely low-dose ACTH therapy at 6 months, developing pneumonia 2 weeks after therapy initiation; <em>Legionella</em> pneumonia diagnosis was confirmed 14 days after onset. Although minocycline, ciprofloxacin, azithromycin, and rifampicin were administered, pneumonia progressed critically and required prolonged intensive care, resulting in chronic respiratory failure. Patient 2 with <em>KLHL20</em> variant was administered extremely low-dose ACTH therapy for 4 weeks at the age of 3 months, developing <em>Pneumocystis carinii</em> pneumonia 1 week after completion of therapy, which recovered with trimethoprim-sulfamethoxazole therapy.</div></div><div><h3>Conclusion</h3><div>Extremely low-dose and short-term ACTH therapy can be associated with opportunistic infections, and early diagnosis and treatment are crucial, because delays in administering appropriate antibiotics can lead to severe complications.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100046"},"PeriodicalIF":0.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553877","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 CLCN4-related epilepsy presenting as epilepsy of infancy with migrating focal seizures","authors":"Kenta Suzuki ,&nbsp;Yuichi Suzuki ,&nbsp;Mika Yamada ,&nbsp;Maki Nodera ,&nbsp;Fuyuki Miya ,&nbsp;Mitsuhiro Kato ,&nbsp;Mitsuaki Hosoya","doi":"10.1016/j.bdcasr.2024.100048","DOIUrl":"10.1016/j.bdcasr.2024.100048","url":null,"abstract":"<div><h3>Background</h3><div><em>CLCN4</em> pathogenic variants cause X-linked intellectual disability and epilepsy. <em>CLCN4</em>-related epilepsy presents with a variety of seizures including absence, tonic, and focal seizures, is refractory to treatments, and is complicated by severe global developmental delay. We herein report a case of epilepsy of infancy with migrating focal seizures (EIMFS) in a male infant with <em>CLCN4</em> variant.</div></div><div><h3>Case presentation</h3><div>The patient was a 3-month-old male with no abnormal perinatal history or family history of epilepsy. Initially, the patient developed convulsive seizures in both upper limbs and the left face, which were refractory to focal epilepsy treatments. Subsequently, a diagnosis of EIMFS was made because the focal sites began to shift from the left hemisphere to the right hemisphere during seizures. The seizures could not be controlled with polytherapy using antiseizure medications, but finally responded to potassium bromide. Whole exome sequencing revealed a novel de novo <em>CLCN4</em> variant, NM_001830.4:c.854A&gt;G,p.(Tyr285Cys).</div></div><div><h3>Discussion/conclusion</h3><div>To date, there have been 24 reported cases of <em>CLCN4</em>-related epilepsy in the world, with only one case of EIMFS, excluding the present case. Additionally, to the best of our knowledge, there have been no previous reports that included a detailed clinical course of a case of <em>CLCN4</em>-related epilepsy showing EIMFS. Further studies with accumulation of clinical cases are needed to understand the pathophysiology of <em>CLCN4</em>-related epilepsy, as well as to establish treatment methods.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100048"},"PeriodicalIF":0.0,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553878","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":"Acute proximal weakness after cochlear implant: Riboflavin transporter deficiency onset in child","authors":"Cristina Villar-Vera ,&nbsp;Mika Aiko-Gesler ,&nbsp;Lucía Monfort Belenguer ,&nbsp;Ana Cuesta Peredo ,&nbsp;Manuel de Entrambasaguas","doi":"10.1016/j.bdcasr.2024.100045","DOIUrl":"10.1016/j.bdcasr.2024.100045","url":null,"abstract":"<div><h3>Background</h3><div>Riboflavin transporter deficiencies (RTDs) are treatable progressive neurodegenerative disorders that present with symptoms including weakness, ataxia and neurosensory hearing loss. Once converted to the flavin cofactor, riboflavin plays a pivotal role in redox metabolic reactions. Similarly to classical mitochondrial diseases, stress may act as a trigger for disease progression.</div></div><div><h3>Case presentation</h3><div>The subject is a 3-year-old girl with initially normal development who experienced language regression due to sensorineural deafness at 20 months old. One year later, the patient experienced an acute episode of asymmetric proximal weakness following cochlear implant surgery. All metabolic, immunological, and neuroimaging studies were normal. Serial electromyography studies revealed a rapidly progressive axonal sensory-motor neuropathy affecting the upper limbs. In search of treatable conditions, riboflavin was initiated, and later on, compound heterozygous pathogenic variants in SLC52A2 were identified.</div></div><div><h3>Conclusion</h3><div>This report describes the clinical and electromyography findings of this patient during the four years following diagnosis.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100045"},"PeriodicalIF":0.0,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142526798","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}