Brain and Development Case Reports最新文献

{"title":"AESD due to COVID-19 with shifting seizure focus laterality between early and late seizure, accompanied by characteristic blood flow signal changes on MRI","authors":"Kei Morota ,&nbsp;Ryo Sugitate ,&nbsp;Natsuki Yagi ,&nbsp;Atsushi Matsui ,&nbsp;Tomomi Ogata ,&nbsp;Kazuhiro Muramatsu","doi":"10.1016/j.bdcasr.2024.100029","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100029","url":null,"abstract":"<div><h3>Background</h3><p>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) commonly presents with febrile seizure overlap and clusters of seizures several days later; however, information on the localization of seizure foci is scarce.</p></div><div><h3>Case presentation</h3><p>We present the case of a 6-year-old child who initially presented with seizures of the right upper and lower extremities as early seizures, but later, the focus of her seizure clusters shifted to the left upper extremity as late seizures. Arterial spin labeling (ASL) findings in the right cerebral hemisphere changed accordingly, but blood flow in the left frontal lobe was consistently enhanced, suggesting the presence of additional pathology.</p></div><div><h3>Conclusion</h3><p>This case expands our understanding of evolving seizure patterns in AESD and highlights the potential of ASL to elucidate its complex pathophysiology.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100029"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000254/pdfft?md5=c801c4d9be98994ab828eac68b8070c0&pid=1-s2.0-S2950221724000254-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141487026","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":"SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia","authors":"Joana Sa de Almeida ,&nbsp;Joel Fluss ,&nbsp;Méryle Laurent ,&nbsp;Lina Quteineh ,&nbsp;Christian Korff ,&nbsp;Stéphanie Garcia-Tarodo","doi":"10.1016/j.bdcasr.2024.100028","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100028","url":null,"abstract":"<div><h3>Introduction</h3><p><em>SCN2A</em> mutations have been associated with a wide phenotypic spectrum that includes, among others, developmental and epileptic encephalopathy (DEE), usually not associated with any brain structural counterpart.</p></div><div><h3>Case description</h3><p>We report the occurrence of a super-refractory status epilepticus (SRSE) in a 2-month-old infant, who presented at birth with refractory neonatal seizures attributed to an extensive bilateral polymicrogyria and cortical dysplasia. Upon his SRSE, he responded radically to the sodium-channel blocker phenytoin with complete seizure resolution and has remained seizure free during the 2-year follow-up period. A <em>SCN2A</em> pathogenic variant was found with predicted gain-of-function effect. Notably, brain MRI findings during the neonatal ictal phase showed signs of hypoxia with cytotoxic and vasogenic oedema, corresponding to the ictal localisation. These changes were not observed upon repetition of the brain MRI during the SRSE at 2 months of age, perhaps suggesting increased neonatal vulnerability to hypoxia in the presence of an <em>SCN2A</em> variant, that modifies over time.</p></div><div><h3>Conclusion</h3><p>Our case report highlights the importance of challenging our clinical management in the presence of refractory seizures attributed solely to a structural cause, with genetic testing providing a key insight for therapeutic management.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100028"},"PeriodicalIF":0.0,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000242/pdfft?md5=acd6b0f0752adfd6fc446be128364292&pid=1-s2.0-S2950221724000242-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141486917","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":"Seizure and coma with overdose dextromethorphan: A case report","authors":"Ken Nakano ,&nbsp;Shingo Numoto ,&nbsp;Akihisa Okumura ,&nbsp;Kazuhiro Hirata ,&nbsp;Sachie Kaneko ,&nbsp;Yoichiro Oro","doi":"10.1016/j.bdcasr.2024.100027","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100027","url":null,"abstract":"<div><h3>Background</h3><p>Dextromethorphan (DXM) is a commonly used anti-tussive drug. DXM overdose can elicit neurobehavioral effects, such as hallucinations, stimulation, euphoria, and dissociation, and rarely cause seizures or coma.</p></div><div><h3>Case report</h3><p>A 14-year-old Japanese female was referred to the emergency department of our hospital in a coma following a seizure. She had no history of epilepsy or psychiatric diseases. Initially, the underlying causes of the coma and seizures were unclear. However, several used DXM packages were found in her school bag, and an overdose was suspected. The patient was diagnosed with DXM overdose. The neurobehavioral symptoms resolved without specific treatments. DXM concentrations in the blood and cerebrospinal fluid were 830 and 320 ng/mL, respectively.</p></div><div><h3>Conclusion</h3><p>The possibility of DXM overdose should be considered in patients admitted with seizures or comas of unknown cause.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100027"},"PeriodicalIF":0.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000230/pdfft?md5=d2dced702be2380a3684a5efc01d3218&pid=1-s2.0-S2950221724000230-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141439165","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":"Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1","authors":"Takuya Hiraide ,&nbsp;Wakako Yoshioka ,&nbsp;Yusuke Ito ,&nbsp;Rei Urushibata ,&nbsp;Taiju Hayashi ,&nbsp;Hidetoshi Ishigaki ,&nbsp;Ichizo Nishino ,&nbsp;Tokiko Fukuda","doi":"10.1016/j.bdcasr.2024.100025","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100025","url":null,"abstract":"<div><h3>Background</h3><p><em>RYR1</em> (ryanodine receptor 1), which functions as a calcium release channel in the sarcoplasmic reticulum and is associated with the susceptibility to malignant hyperthermia and several myopathies. Serum creatine kinase (CK) levels are important for the diagnosis of patients with neuromuscular diseases; however, CK levels can be elevated even in individuals without obvious clinical symptoms. Recently, <em>RYR1</em> was reported as one of the genes responsible for asymptomatic or paucisymptomatic hyperCKemia.</p></div><div><h3>Case presentation</h3><p>Here, we report the case of a family with autosomal dominant hyperCKemia. The fraternal twin sisters complained of exertional myalgia after exercise, such as playing basketball, without evidence of muscle weakness or fatigue. Serum CK levels of the twin sister patients ranged from 642 U/L to 5620 U/L and from 411 U/L to 2609 U/L, respectively. The mother had hyperCKemia (523 U/L) without any neuromuscular symptoms. Muscle biopsy from one of the twin sisters showed no necrotic fibers, several regenerating fibers, and several fibers with internal nuclei. Exome sequencing of the same patient identified a novel, possibly pathogenic variant (NM_000540.3:c.682G&gt;A, p.Glu228Lys) in <em>RYR1</em>. This variant was also detected by Sanger sequencing in another sister and mother with hyperCKemia.</p></div><div><h3>Conclusions</h3><p>Patients with possible pathogenic variants in <em>RYR1</em> are at risk for malignant hyperthermia susceptibility and rhabdomyolysis. Genetic analyses, including <em>RYR1</em> for cases with asymptomatic or paucisymptomatic hyperCKemia may be useful in identifying individuals at potential risk of malignant hyperthermia susceptibility and rhabdomyolysis.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100025"},"PeriodicalIF":0.0,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000217/pdfft?md5=8c96035ab24b1d7f7975017d880a5cb8&pid=1-s2.0-S2950221724000217-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141434373","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":"Two cases of COVID-19-related hemorrhagic shock and encephalopathy syndrome with different outcomes","authors":"Keiichiro Toma ,&nbsp;Kazunori Aoki ,&nbsp;Hiroshi Kurosawa ,&nbsp;Masahiro Nishiyama ,&nbsp;Azusa Maruyama","doi":"10.1016/j.bdcasr.2024.100024","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100024","url":null,"abstract":"<div><h3>Background</h3><p>Severe cases due to acute encephalopathy in patients with coronavirus disease 2019 (COVID-19) have been reported. Among acute encephalopathies, the cytokine storm type has a poor prognosis and no established treatment. Here, we describe two cases of COVID-19-related hemorrhagic shock and encephalopathy syndrome (HSES) with different outcomes.</p></div><div><h3>Case presentation</h3><p>Case 1 was a 2-year-11-month-old girl with no medical history. She developed a fever on the first day of the illness and was admitted to our pediatric intensive care unit (PICU) on day two due to status epilepticus. She had refractory shock from arrival, and was diagnosed with HSES. On day three, both pupils were dilated. A brain computed tomography (CT) scan showed diffuse cerebral edema. The electroencephalogram showed electrocerebral inactivity; brainstem reflexes were not observed. The patient died on day 13. Case 2 was a 6-year-old boy with a history of febrile seizures. He developed a fever on the first day of the illness and was admitted to our PICU on day three due to status epilepticus. A brain CT on admission showed cerebral edema. He developed hypotensive shock after admission, and was diagnosed with HSES. He received multidisciplinary treatment, and was extubated on day eight. The patient was diagnosed with HSES and received multidisciplinary treatment. The patient recovered and was extubated on day eight. He was discharged on day 17. Case 2 had a shorter duration of hypotension, temperature management at a lower temperature, and more aggressive anti-seizure medication use.</p></div><div><h3>Conclusion</h3><p>Circulatory stabilization is essential for hypothermia therapy and aggressive anti-seizure medication use, and important in terms of maintaining cerebral circulation. Therefore, early recovery from shock appeared to be the most crucial factor affecting the outcomes of both cases.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100024"},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000205/pdfft?md5=a922ff5de39808d41693d7f07094363d&pid=1-s2.0-S2950221724000205-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141324283","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 liver failure worsened after respiratory syncytial virus infection in an infant with spinal muscular atrophy type I after receiving onasemnogene abeparvovec","authors":"Shohei Sakemi ,&nbsp;Takako Fujita ,&nbsp;Noriyuki Kaku ,&nbsp;Shuichi Yatsuga ,&nbsp;Kazutoshi Ito ,&nbsp;Daiki Sasaoka ,&nbsp;Hiromi Yamaguchi ,&nbsp;Hitomi Hayashi ,&nbsp;Takahito Inoue ,&nbsp;Kanako Higashi ,&nbsp;Yasunari Sakai ,&nbsp;Shouichi Ohga ,&nbsp;Shinichiro Nagamitsu","doi":"10.1016/j.bdcasr.2024.100022","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100022","url":null,"abstract":"<div><h3>Background</h3><p>Onasemnogene abeparvovec (OA) is an adeno-associated viral type 9 (AAV9) vector-based gene replacement therapy for infants with spinal muscular atrophy (SMA) if they are negative for anti-AAV9 antibodies. However, serious adverse events were reported after OA treatment.</p></div><div><h3>Case presentation</h3><p>A 2-month-old infant received a diagnosis of SMA type I because of progressive weakness and the result of genetic screening. The detectable anti-AAV9 antibody titers prompted us to start risdiplam immediately as the first-line treatment. OA was administered 7 months after birth when the titers declined to be negative. Fever and slightly elevated levels of transaminases were found one week after OA and improved spontaneously. Two months after OA, acute liver failure developed in association with respiratory syncytial virus infection. Intensive care with steroid therapy rescued this patient from life-threatening hepatopathy.</p></div><div><h3>Discussion/conclusion</h3><p>The anti-AAV9 antibody delayed OA in the early diagnosed case of SMA. The literature review found that all cases of liver failure occurred within the first 2 months of OA. Hepatopathy needs to be controlled in SMA cases with OA because of the potential factors to augment liver damage during infection.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 3","pages":"Article 100022"},"PeriodicalIF":0.0,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000187/pdfft?md5=dafb38857909854437e404a8c24cb7f8&pid=1-s2.0-S2950221724000187-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141286065","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":"Hypohidrotic ectodermal dysplasia with influenza-associated encephalopathy: A case report","authors":"Takanobu Yoshida ,&nbsp;Jun Kido ,&nbsp;Mika Ogata ,&nbsp;Tomoyuki Mizukami ,&nbsp;Katsuki Hirai ,&nbsp;Yohei Misumi ,&nbsp;Toshiyuki Itai ,&nbsp;Satoko Miyatake ,&nbsp;Naomichi Matsumoto ,&nbsp;Mitsuharu Ueda ,&nbsp;Kimitoshi Nakamura","doi":"10.1016/j.bdcasr.2024.100018","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100018","url":null,"abstract":"<div><h3>Background</h3><p>Pathogenic variants of ectodysplasin A (<em>EDA</em>) gene are responsible for the development of hypohidrotic ectodermal dysplasia (HED) and energy dysmetabolism. Patients with HED develop hyperthermia and dry skin owing to hypohidrosis. Influenza-associated encephalopathy (IAE) is characterized by developing impaired consciousness within a few days after influenza infection.</p></div><div><h3>Case presentation</h3><p>A 4-year-old boy with HED demonstrated IAE. He experienced frequent episodes of fever and exhibited typical HED features such as sparse hair, hypohidrosis, and dry skin. He was diagnosed with IAE at the age of 19 months and showed severe psychomotor impairment after this diagnosis.</p></div><div><h3>Discussion</h3><p>Cytokine storm, status epilepticus, and significant hyperthermia deriving from HED during influenza virus infection were determined to have contributed to the development of IAE resulting in defective energy metabolism and neuronal damage.</p></div><div><h3>Conclusion</h3><p>Cytokine storm and significant hyperthermia during the influenza virus infection might cause the development of IAE and enhance catabolism. Thermal control is essential for HED management. Therefore, controlling body temperature during the infectious viral state is essential.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 2","pages":"Article 100018"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295022172400014X/pdfft?md5=cfc0494486e21284118c5ff06465c294&pid=1-s2.0-S295022172400014X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141239113","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":"Biotinidase deficiency: A treatable neurometabolic disorder","authors":"Beena Devanapalli ,&nbsp;Rachel Sze Hui Wong ,&nbsp;Natalie Lim ,&nbsp;P Ian Andrews ,&nbsp;Keshini Vijayan ,&nbsp;Won-Tae Kim ,&nbsp;Tiffany Wotton ,&nbsp;Esther Tantsis ,&nbsp;Enzo Ranieri ,&nbsp;Adviye Ayper Tolun ,&nbsp;Shanti Balasubramaniam","doi":"10.1016/j.bdcasr.2024.100021","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100021","url":null,"abstract":"<div><h3>Background</h3><p>Biotinidase (E.C. 3.5.1.12) is an enzyme which recycles biotin, a coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. Biotinidase deficiency (OMIM #253260) causes a reduction in free biotin leading to multiple carboxylase deficiency. In its severe form, children may have seizures, delayed development, respiratory issues, cutaneous manifestations, hearing and visual loss. The milder phenotype may manifest symptoms only when stressed, such as during infections.</p></div><div><h3>Case presentation</h3><p>We describe two infants who presented aged two and five months respectively, with generalised seizures, mild gross motor delay, elevated plasma and cerebrospinal fluid lactate levels. Moderate increases in propionylcarnitine and 3-hydroxyisovalerylcarnitine on plasma acylcarnitine profile suggested multiple carboxylase deficiency. Further testing confirmed biotinidase deficiency. Retrospective qualitative analysis of the newborn screening dried blood spot cards in both patients showed reduced biotinidase enzyme activity. Molecular analysis confirmed pathogenic homozygous variants in the <em>BTD</em> gene. They were commenced on oral biotin with no further seizures observed in either patient. Patient 1 also made significant developmental gains and achieved age-appropriate milestones by 12 months. At five years of age, he has receptive and expressive language delays.</p></div><div><h3>Discussion/conclusion</h3><p>Early identification and treatment of biotinidase deficiency can prevent lifelong complications and major disabilities, hence should be considered as an important differential of seizures and neurodevelopmental delay. Currently, biotinidase deficiency is not one of the conditions screened for in newborns in Australia, however with the evolving demographics due to robust immigration, the New South Wales Newborn Screening Program has reconsidered its inclusion in our screening program.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 2","pages":"Article 100021"},"PeriodicalIF":0.0,"publicationDate":"2024-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000175/pdfft?md5=58c224d89a5b4114572707b538317641&pid=1-s2.0-S2950221724000175-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097290","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":"Progress in cardiorespiratory fitness and motor coordination skills in children with attention-deficit/hyperactivity disorder with easy fatigue and physical inactivity due to the side effects of guanfacine extended-release","authors":"Ken Kikuchi ,&nbsp;Midori Hayashi ,&nbsp;Manami Honda","doi":"10.1016/j.bdcasr.2024.100017","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100017","url":null,"abstract":"<div><h3>Introduction</h3><p>Guanfacine extended-release (GXR), a medication administered to treat attention-deficit/hyperactivity disorder (ADHD), demonstrates side effects, including hypotension, bradycardia, sedation, and somnolence. Children with ADHD with easy fatigue and physical inactivity caused by these side effects have been reported in clinical practice. ADHD medications improve motor function in the short term. Herein, we report the progress in cardiorespiratory fitness (CRF) and motor function of children with ADHD with easy fatigue and physical inactivity after GXR treatment.</p></div><div><h3>Case presentation</h3><p>A 7-year-old patient with ADHD began to demonstrate marked fatigue and physical inactivity after taking GXR. His treatment was then combined with physical therapy which was continued once a month for approximately one year and included a treadmill exercise test (10-minute walk with a multistep load protocol of 3.0–8.0 km/h) and instruction in motor coordination skills, including home exercises. The GXR dose was increased approximately every 9–10 months, considering the weight and increasing problems at home. Motor coordination skills improved immediately after the increased GXR dose, and the CRF progressed well as the effect of medication subsided.</p></div><div><h3>Discussion/Conclusion</h3><p>Fatigue and physical inactivity should be considered in exercise therapy in combination with GXR administration. Thus, combined exercise therapy and medication that considers CRF and skill acquisition status may be effective for children with ADHD.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 2","pages":"Article 100017"},"PeriodicalIF":0.0,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000138/pdfft?md5=eaad3f139612902633ffee0008507ab5&pid=1-s2.0-S2950221724000138-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140816744","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":"ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability","authors":"Satomi Okano ,&nbsp;Yoshio Makita ,&nbsp;Yuki Ueda ,&nbsp;Akie Miyamoto ,&nbsp;Hajime Tanaka ,&nbsp;Kumiko Yanagi ,&nbsp;Tadashi Kaname","doi":"10.1016/j.bdcasr.2024.100016","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100016","url":null,"abstract":"<div><h3>Background</h3><p>Sodium/potassium (Na⁺/K⁺) ATPase is a heteromeric protein complex responsible for maintaining the Na⁺/K⁺ electrochemical gradient across the neuronal plasma membrane. The α₃ isoform of the Na⁺/K⁺ ATPase, encoded by <em>ATP1A3</em>, acts as a rescue pump and is predominantly present in the neurons of the central nervous system. The <em>de novo</em> variants of <em>ATP1A3</em> cause several distinct neurological syndromes.</p></div><div><h3>Case</h3><p>We presented the case of a boy with no family history of neurological diseases who was harboring a <em>de novo</em> pathogenic variation, NM_152296:c.974G &gt; T, p.Gly325Val, in <em>ATP1A3</em>. He presented with a rare spastic paraplegia of the lower extremities, autism spectrum disorder, and intellectual disability.</p></div><div><h3>Discussion and conclusion</h3><p>Previous studies have demonstrated the <em>ATP1A3</em> variant p.Gly325 to be pathogenic for dystonia, face dysmorphia, encephalopathy, brain magnetic resonance imaging abnormalities, and no hemiplegia. A recent study has revealed, for the first time, the development of spastic paraplegia as a manifestation of the <em>de novo ATP1A3</em> p.Pro775Leu pathogenic variant. In this case report, we concluded that another <em>de novo</em> pathogenic variation in <em>ATP1A3</em>, p.Gly325Val, manifests as spastic paraplegia and intellectual disability in the index patient. These results suggest that <em>ATP1A3</em> is a novel causative gene of hereditary spastic paraplegia.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 2","pages":"Article 100016"},"PeriodicalIF":0.0,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000126/pdfft?md5=37966604029c10c2d51110aa000d5840&pid=1-s2.0-S2950221724000126-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140632529","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}