Brain and Development Case Reports最新文献

{"title":"Corrigendum to “Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus” [Brain Dev. Case Rep. 3(2) (2025) 100069]","authors":"Takeshi Inoue , Kei Ohashi , Ayako Hattori , Mariko Saito , Tomoshige Tanimura , Daisuke Ieda , Kyoko Ban , Fuyuki Miya , Shinji Saitoh","doi":"10.1016/j.bdcasr.2025.100087","DOIUrl":"10.1016/j.bdcasr.2025.100087","url":null,"abstract":"","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100087"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262930","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":"Ineffectiveness of creatine, glycine, and arginine supplementation in a female with creatine transporter deficiency: A case report","authors":"Mayuka Tsuchida ,&nbsp;Kyoko Takano ,&nbsp;Masaru Nasuno ,&nbsp;Manami Yabe ,&nbsp;Makoto Nishioka ,&nbsp;Takenori Natsume ,&nbsp;Tomoki Kaneko ,&nbsp;Tetsuhiro Fukuyama","doi":"10.1016/j.bdcasr.2025.100082","DOIUrl":"10.1016/j.bdcasr.2025.100082","url":null,"abstract":"<div><h3>Background</h3><div>Creatine transporter deficiency (CTD), caused by pathogenic variants of the <em>SLC6A8</em> gene, is a significant cause of X-linked neurodevelopmental disorders. Heterozygous female patients with CTD exhibit residual creatine transporter activity. Therefore, supplementation therapy with creatine, arginine, and glycine is hypothesized to elevate cerebral creatine levels and improve clinical symptoms.</div></div><div><h3>Case presentation</h3><div>We describe the case of a 12-year-old Japanese girl diagnosed with CTD using genetic analysis and magnetic resonance spectroscopy (MRS). The patient presented with intellectual disabilities, behavioral disturbances, and drug-resistant epilepsy. Supplementation therapy with creatine (400 mg/kg/day), glycine (200 mg/kg/day), and arginine (200 mg/kg/day) led to an increase in cerebral creatine levels as measured by MRS; however, no clinical improvement was observed in her seizures and behavioral symptoms.</div></div><div><h3>Discussion</h3><div>Previously reported cases revealed variability in responses to supplementation therapy among female patients with CTD. Although the factors underlying the differences in therapeutic efficacy remain unclear, higher doses of arginine may be correlated with improved outcomes. Standardized quantitative evaluations using MRS could facilitate more accurate predictions of the efficacy of supplementation therapy.</div></div><div><h3>Conclusion</h3><div>This case highlights the complexities involved in managing female patients with CTD and underscores the need for standardized treatment and evaluation protocols. International collaboration is crucial for developing optimized therapeutic strategies for this rare condition.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100082"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221223","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":"A case of pediatric insulinoma misdiagnosed as atypical epilepsy for 4 years","authors":"Rina Takano ,&nbsp;Nozomi Hishimura ,&nbsp;Naoya Kaneko ,&nbsp;Megumi Endo ,&nbsp;Takeshi Yamaguchi ,&nbsp;Liu Zhitong ,&nbsp;Yasuhisa Odagawa ,&nbsp;Shohei Honda ,&nbsp;Tatsuhiko Kakisaka ,&nbsp;Insu Kawahara ,&nbsp;Daisuke Kato ,&nbsp;Ryo Morita ,&nbsp;Daisuke Abo ,&nbsp;Ayumi Takayanagi ,&nbsp;Akie Nakamura ,&nbsp;Atsushi Manabe ,&nbsp;Kiyoshi Egawa ,&nbsp;Shuntaro Morikawa","doi":"10.1016/j.bdcasr.2025.100084","DOIUrl":"10.1016/j.bdcasr.2025.100084","url":null,"abstract":"<div><h3>Background</h3><div>Hypoglycemia can cause various neurological symptoms, including seizures and impaired consciousness; however, they are often non-specific and can easily be overlooked. In pediatric patients, recurrent hypoglycemia-related seizures are rare, and can frequently lead to a misdiagnosis of epilepsy.</div></div><div><h3>Case presentation</h3><div>An 8-year-old boy initially presented with clonic convulsions or myoclonic jerks, primarily affecting the right upper limb without impairment of awareness. He later developed generalized tonic-clonic convulsions or non-convulsive seizures with altered consciousness and urinary incontinence. He was diagnosed with symptomatic focal epilepsy, and levetiracetam and valproic acid were initiated. At the age of 13 years, blood test results revealed hyperinsulinemia and severe hypoglycemia. Abdominal CT and a selective arterial secretagogue injection test identified a functional pancreatic neuroendocrine tumor. Subsequent surgical procedures and histopathological analyses confirmed the diagnosis of an insulinoma. These findings clarified the cause of the patient's recurrent seizures, which were secondary to severe hypoglycemia. Genetic analysis identified a pathogenic variant of <em>MEN1</em> gene (NM_001370259.2(MEN1): c.784-9G&gt;A), leading to the diagnosis of insulinoma associated with multiple endocrine neoplasia type 1.</div></div><div><h3>Conclusion</h3><div>This patient underscores the diagnostic challenge of hypoglycemia-related neurological symptoms and highlights the importance of screening for hypoglycemia in pediatric patients presenting with atypical seizure features.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100084"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144204271","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":"Resolution of extensive Mongolian spots (dermal melanocytosis) in a patient with mucopolysaccharidosis type II undergoing enzyme replacement therapy with pabinafusp alfa: A case report","authors":"Tomomi Nakamura ,&nbsp;Takahiro Yonekawa ,&nbsp;Motomichi Kosuga ,&nbsp;Minehiro Kurai ,&nbsp;Hiroyuki Sakatoku ,&nbsp;Tatsuyoshi Yamamoto ,&nbsp;Pascal Yoshida ,&nbsp;Yuji Sato ,&nbsp;Takahiro Ito ,&nbsp;Mari Morimoto ,&nbsp;Ryo Hanaki ,&nbsp;Hidemi Toyoda ,&nbsp;Masahiro Hirayama","doi":"10.1016/j.bdcasr.2025.100089","DOIUrl":"10.1016/j.bdcasr.2025.100089","url":null,"abstract":"<div><h3>Background</h3><div>Mucopolysaccharidosis type II (MPS II; Hunter syndrome), an X-linked recessive lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase, leads to systemic accumulations of glycosaminoglycans that affect multiple organs. It also has several distinctive cutaneous manifestations, in particular extensive Mongolian spots (dermal melanocytosis), which are often the earliest signs of the disease. The Mongolian spots in patients with MPS II are known to persist for much longer than they do in healthy children, and they are nonresponsive to hematopoietic stem cell transplantation or enzyme replacement therapy with idursulfase.</div></div><div><h3>Case presentation</h3><div>We report a case of extensive Mongolian spots extending upwards from the buttocks and on the abdomen in a Japanese boy who was diagnosed with neuronopathic MPS II at 15 months of age, whereupon treatment was started with weekly intravenous administration of pabinafusp alfa. After over 2 years of treatment, his neurocognitive development was maintained, and he showed no apparent somatic manifestations (e.g. hepatosplenomegaly, valvular dysfunctions or hearing loss), suggesting that pabinafusp alfa is effective in addressing both the neuronopathic and somatic symptoms of MPS II. Notably, the extensive Mongolian spots covering the patient's sacral and extrasacral regions resolved markedly in terms of both size and colour.</div></div><div><h3>Discussion</h3><div>This is the first report of improvements in MPS II-associated extensive Mongolian spots brought about by enzyme replacement therapy. Further study of MPS II-related skin lesions and their clinical course is required to elucidate the dermatological pathology of a disease that has hitherto been nonresponsive to conventional therapies.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100089"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144338548","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":"Cytotoxic white matter lesions in Menkes disease: A case report of centrum semiovale involvement","authors":"Aki Kawakami ,&nbsp;Mikako Enokizono ,&nbsp;Sahoko Miyama","doi":"10.1016/j.bdcasr.2025.100103","DOIUrl":"10.1016/j.bdcasr.2025.100103","url":null,"abstract":"<div><h3>Background</h3><div>Menkes disease is a rare disorder of copper metabolism characteristically presenting kinky hair as well as neurological symptoms, including epilepsy, developmental delay, and hypotonia. While the kinky hair is a consistent and distinguishing feature, the other symptoms are nonspecific. Neuroimaging studies often find vascular tortuosity and cerebral atrophy whereas white matter involvement is less well-characterized. Most of the lesions stem from vasogenic edema, and reports of cytotoxic changes are rare.</div></div><div><h3>Case presentation</h3><div>We report herein a 10-month-old, male patient with Menkes disease who presented with developmental delay and epileptic spasms. Diffusion-weighted imaging (DWI) revealed symmetrical, oval-shaped areas of hyperintensity with a decreased apparent diffusion coefficient (ADC) in the bilateral centrum semiovale. Proton magnetic resonance spectroscopy (¹H-MRS) demonstrated elevated lactate, suggesting an underlying mitochondrial dysfunction.</div></div><div><h3>Conclusion</h3><div>The findings of the present case indicated that Menkes disease can present not only vascular abnormalities but also cytotoxic white matter lesions in the centrum semiovale, thus highlighting the risk of metabolic injury in addition to that of ischemia.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100103"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144866478","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":"A pediatric case of transient ischemic attacks associated with a hypoplastic internal carotid artery and neurofibromatosis type 1","authors":"Yuko Ushida ,&nbsp;Yoshinori Kadono ,&nbsp;Tomoko Nitta ,&nbsp;Yuka Hattori ,&nbsp;Satoshi Onishi ,&nbsp;Yo Okizuka ,&nbsp;Toyo Shimizu ,&nbsp;Ren Matsushima ,&nbsp;Kazushige Maeno ,&nbsp;Atsuko Harada ,&nbsp;Haruhiko Kishima","doi":"10.1016/j.bdcasr.2025.100094","DOIUrl":"10.1016/j.bdcasr.2025.100094","url":null,"abstract":"<div><h3>Background</h3><div>Neurofibromatosis type 1 (NF1; OMIM <span><span>162200</span><svg><path></path></svg></span>) is associated with various cardiovascular abnormalities, including moyamoya syndrome, which often leads to cerebral ischemia. However, symptomatic internal carotid artery (ICA) hypoplasia necessitating revascularization surgery has not been previously reported in patients with NF1. Here, we present a pediatric NF1 case involving symptomatic unilateral ICA hypoplasia associated with transient ischemic attacks.</div></div><div><h3>Case presentation</h3><div>Based on the presence of multiple café-au-lait spots and subcutaneous neurofibromas, a three-year-old girl, who presented at our hospital complaining of repeated episodes of transient right hemiparesis, was diagnosed with NF1. Head magnetic resonance imaging revealed an “ivy sign” in the left hemisphere on T2-fluid attenuated inversion recovery images. Cerebral angiography and magnetic resonance angiography revealed a left common carotid artery narrowing from its origin and a left ICA occlusion distal to the ophthalmic artery bifurcation. However, moyamoya vessels were not detected. Computed tomography scanning revealed a narrow left carotid canal, suggesting ICA hypoplasia. Cerebral perfusion imaging showed insufficient cerebral blood flow in the left middle cerebral artery territory. Therefore, the patient was diagnosed with symptomatic ICA hypoplasia associated with transient ischemic attacks, and revascularization surgery was performed.</div></div><div><h3>Conclusion</h3><div>ICA hypoplasia, a congenital ICA narrowing, is typically asymptomatic. This case indicates that vascular smooth muscle proliferation associated with NF1 may have contributed to symptomatic ICA occlusion and that in patients with NF1 and ICA hypoplasia, careful long-term observation may be required.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100094"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144587767","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":"Long-term natural course of spinal deformity in a patient with type 1 spinal muscular atrophy: A case report","authors":"Chikao Ohigashi ,&nbsp;Masako Tsukanaka ,&nbsp;Kenji Inoue","doi":"10.1016/j.bdcasr.2025.100104","DOIUrl":"10.1016/j.bdcasr.2025.100104","url":null,"abstract":"<div><h3>Background</h3><div>Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and weakness. Patients with type 1 SMA become symptomatic within the first 6 months of their lives. As most patients die before the age of 2, spinal deformity has not been a clinical problem; however, with the emergence of disease-modified therapies (DMT), longer survival is expected. Nonetheless, little is known about the natural long-term course of spinal deformities in patients with type 1 SMA. <em>Case presentation</em>: We report a case of type 1 SMA treated with supportive care without DMT until the age of 22. Radiography revealed a bell-shaped chest at 9 months of age. Thoracic scoliosis was first observed at age 3, progressed to a Cobb angle of 68° at age 13, and remained stable until the age of 26 years. Computed tomography (CT) images obtained after skeletal maturity revealed thoracic lordosis and spontaneous fusion of the lumbar laminae.</div></div><div><h3>Discussion</h3><div>Respiratory failure is the leading cause of death with type 1 SMA, and chest wall deformities can result in reduced breathing capacity and tracheal obstruction. In this case, the slow progression of the deformities may have contributed to the stable ventilation. Thoracic lordosis was also observed. This finding contrasts with the previously reported thoracic kyphosis in patients with type 2 SMA. Three-dimensional computerised tomography (3DCT) images demonstrated laminar fusion, which contributed to spinal stability.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100104"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144878227","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":"A pediatric case of clinically isolated syndrome presenting with one-and-a-half syndrome","authors":"Shonosuke Tagashira ,&nbsp;Nobuko Katayama ,&nbsp;Ai Kato ,&nbsp;Yoichiro Oda","doi":"10.1016/j.bdcasr.2025.100090","DOIUrl":"10.1016/j.bdcasr.2025.100090","url":null,"abstract":"<div><h3>Background</h3><div>One-and-a-half (OAAH) syndrome is defined as complete horizontal gaze palsy in one eye and medial gaze palsy in the other, while binocular convergence remains intact. This syndrome arises from concurrent damage to the unilateral medial longitudinal fasciculus and either the paramedian pontine reticular formation or abducens nerve nucleus within the pontine tegmentum.</div></div><div><h3>Case presentation</h3><div>A 7-year-old girl presented with acute onset nausea, vomiting, diplopia, and exotropia, occurring 4 weeks after influenza vaccination. Examination revealed preserved vertical gaze bilaterally with complete horizontal gaze palsy in the right eye and isolated adduction deficit in the left eye, while convergence remained intact. Neurological examination was otherwise unremarkable. Brain magnetic resonance imaging (MRI) demonstrated high signal intensity lesions in the pontine tegmentum, medulla oblongata, and cerebral white matter without gadolinium enhancement. Treatment with prednisolone rapidly resolved oculomotor deficits, and the patient remained asymptomatic with no new MRI lesions at 1 year follow-up.</div></div><div><h3>Discussion</h3><div>The patient was diagnosed with isolated OAAH syndrome. The cause was considered as clinically isolated syndrome (CIS) based on demyelinating changes on MRI in the region associated with OAAH syndrome and not meeting the criteria for acute disseminated encephalomyelitis or multiple sclerosis (MS). Isolated OAAH syndrome in the pediatric population is uncommon, with few case reports, including a case of MS. Furthermore, the association between influenza vaccinations and CIS remains unclear.</div></div><div><h3>Conclusion</h3><div>We reported a case of isolated OAAH syndrome caused by CIS in a pediatric population.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100090"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366148","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 respiratory failure in two pairs of unrelated Japanese siblings with SELENON-related myopathy","authors":"Manaka Matsunaga ,&nbsp;Shinsuke Maruyama ,&nbsp;Tomomi Nakamura ,&nbsp;Chihiro Yonee ,&nbsp;Takahiro Yonekawa ,&nbsp;Yujiro Higuchi ,&nbsp;Yasuhiro Okamoto","doi":"10.1016/j.bdcasr.2025.100099","DOIUrl":"10.1016/j.bdcasr.2025.100099","url":null,"abstract":"<div><h3>Background</h3><div>SELENON-related myopathy is an autosomal recessive muscle disorder caused by <em>SELENON</em> variants and is clinically characterized by prominent axial muscle weakness, scoliosis, and severe respiratory dysfunction.</div></div><div><h3>Case presentation</h3><div>We present two pairs of Japanese siblings with SELENON-related myopathies. In all our cases, the initial symptoms were noted before the age of one year. All patients developed motor developmental delay and one of four individuals demonstrated poor weight gain. They started using noninvasive positive pressure ventilation between 5 and 9 years of age, and at least three of them did not complain of any symptoms until respiratory assessment. One patient presented with scoliosis and became wheelchair-bound at 11 years of age. Muscle pathology revealed nonspecific myopathic findings in all patients. They demonstrated a homozygous missense variant, c.1574T&gt;G (p.Met525Arg), in <em>SELENON</em>.</div></div><div><h3>Conclusion</h3><div>In SELENON-related myopathy, respiratory function should be regularly examined, and noninvasive mechanical ventilation can be appropriately introduced. Therefore, we recommend the early diagnosis of SELENON-related myopathy.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100099"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721338","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":"Sialidosis type1 with cardiac malformation: A case report","authors":"Motoko Otsuka ,&nbsp;Shigeru Nagaki ,&nbsp;Kaoru Eto ,&nbsp;Yasushi Ito ,&nbsp;Hitoshi Sakuraba ,&nbsp;Kohji Itoh ,&nbsp;Hideshi Yamamura ,&nbsp;Kei Inai ,&nbsp;Makiko Osawa ,&nbsp;Satoru Nagata","doi":"10.1016/j.bdcasr.2025.100097","DOIUrl":"10.1016/j.bdcasr.2025.100097","url":null,"abstract":"<div><h3>Background</h3><div>Sialidosis is a rare autosomal recessive lysosomal storage disease caused by a variant in the neuraminidase 1 <em>(NEU1)</em> gene encoding lysosomal neuraminidase, and is a rare cause of progressive myoclonus epilepsies (PME). Sialidosis is classified into two types. Sialidosis type 1 is a relatively mild late-onset form with ataxia, myoclonus, macular cherry-red spot, seizures, and non-dysmorphic features. Sialidosis type 2 has congenital, infantile and juvenile-onset forms, and has more severe feature, including ascites, coarse facies, dysostosis multiplex, macular cherry-red spot, hepatosplenomegaly, and developmental delay than type 1.</div></div><div><h3>Case report</h3><div>Our case, a 29-year-old male, had shown normal development up to the age of 12 years and 5 months. Subsequently, he developed ataxia and myoclonus. At age 12 years and 11 months, generalized tonic-clonic seizures occurred with ataxia, myoclonus, intentional tremor, borderline intelligence, and cherry-red macular spot. Skin fibroblast enzymological analysis of neuraminidase yielded a value below 1 nmol/h/mg protein. <em>NEU1</em> gene findings were consistent with compound heterozygous missense variant c.1034C&gt;T(p.Thr345Ile) and c.239C&gt;T(p.Pro80Leu), while electron microscopy of skinfibroblasts showed vacuoles and dense body deposition in both neuroblasts and Schwann cells. In addition, this is the first reported case of sialidosis type 1 associated with a quadricuspid aortic valve malformation.</div></div><div><h3>Conclusion</h3><div>Collectively, the above findings indicated a diagnosis of sialidosis type 1 with cardiac malformation. The involuntary movement improved temporarily in response to clonazepam but then gradually worsened. During 17 years of follow-up, his seizures were controlled with anticonvulsants, but the ataxia, myoclonus and intentional tremor gradually worsened.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100097"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655386","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}