Brain and Development Case Reports最新文献

{"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":"2026-03-01","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":"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":"2026-03-01","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":"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":"2026-03-01","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":"Fine hand motor dysfunction in a girl with epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS): A case report","authors":"Mariko Ishihara ,&nbsp;Minoru Shibata ,&nbsp;Atsushi Mori ,&nbsp;Kengo Kora ,&nbsp;Shu Hamada ,&nbsp;Minako Ide ,&nbsp;Takeo Kato","doi":"10.1016/j.bdcasr.2026.100130","DOIUrl":"10.1016/j.bdcasr.2026.100130","url":null,"abstract":"<div><h3>Background</h3><div>Regression in cognitive, behavioral, or psychiatric functioning is the cardinal symptom of developmental and/or epileptic encephalopathy with spike and wave activation in sleep (D/EE-SWAS). Motor regression has also been reported but is very rare. We describe the case of a girl with EE-SWAS who developed fine motor dysfunction localized in the right hand.</div></div><div><h3>Case presentation</h3><div>A 4-year-old girl presented with focal seizure of the right upper extremity. Interictal EEG showed localized epileptic discharges predominantly in the left central area, and she was initially diagnosed with focal epilepsy. The seizures ceased completely after administration of levetiracetam and carbamazepine. However, she gradually developed clumsiness of the right hand. Long-term video EEG monitoring revealed electrical status epilepticus in sleep (ESES), predominantly in the left central area, and single photon emission computed tomography (SPECT) showed increased perfusion in the left central area. Subsequently a diagnosis of EE-SWAS was made. Adjustment of the anti-seizure medication led to disappearance of the ESES pattern on her sleep EEG, and the fine motor dysfunction in the right hand resolved completely.</div></div><div><h3>Conclusion</h3><div>Previous studies have suggested that specific neuropsychiatric regressions may depend on the cortical area involved by the epileptic activity of each ESES in patient with D/EE-SWAS. The present case clearly highlights the link between epileptiform activity and focal motor dysfunction in D/EE-SWAS.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"4 1","pages":"Article 100130"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147419764","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":"2026-01-01","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}

{"title":"A child case presenting with diffuse dural thickening due to a coma after unsuccessful treatment for a first-episode neuromyelitis optica spectrum disorder","authors":"Hayato Nishibayashi,&nbsp;Osamu Kobayashi,&nbsp;Tomoki Maeda,&nbsp;Kenji Ihara","doi":"10.1016/j.bdcasr.2025.100106","DOIUrl":"10.1016/j.bdcasr.2025.100106","url":null,"abstract":"<div><h3>Introduction</h3><div>Fulminant demyelinating diseases, including neuromyelitis optica spectrum disorder (NMOSD), progress rapidly with severe outcomes. We report a pediatric case of NMOSD with diffuse brain edema and a poor neurological prognosis.</div></div><div><h3>Case presentation</h3><div>A 6-year-old boy received an influenza vaccination 12 days prior to onset, and subsequently developed fever, headache, decreased urination frequency, and constipation. He presented with seizures and a disturbance of consciousness accompanied by hyperthermia (&gt; 41 °C). Physical examination revealed tachycardia, neck stiffness, and papilledema. Magnetic resonance imaging (MRI) revealed scattered white matter lesions on T2-weighted images (T2WI) and longitudinally extensive spinal cord lesions from C4 to Th9. A cerebrospinal fluid (CSF) examination revealed elevated pressure and pleocytosis. Despite performing methylprednisolone pulse therapy following the diagnosis of NMOSD, the patient developed distributive shock. Intensive care was introduced, but the patient developed severe brain edema, and his consciousness did not recover after the cessation of intensive care. On day 30, an EEG revealed a flat trace. On day 38, contrast-enhanced MRI revealed diffuse dural thickening. Serum anti-aquaporin-4 antibodies and anti-myelin oligodendrocyte glycoprotein antibodies were negative.<em>Discussion:</em> We speculate that the combination of hyperthermia, intracranial hypertension, and distributive shock led to severe cerebral ischemia in this case. Even in the absence of overt brain edema the initial MRI, a severe clinical course may still occur.</div></div><div><h3>Conclusion</h3><div>In cases of acute encephalopathy or encephalitis presenting with spinal cord symptoms, hyperthermia, and intracranial hypertension, aggressive temperature and circulatory management under intensive care is essential to prevent severe brain edema.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100106"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144908869","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":"Acute cerebellitis in a 10-year-old male: Diagnostic and management challenges in a resource-limited setting","authors":"Erneus Ernest ,&nbsp;Adam Chai","doi":"10.1016/j.bdcasr.2025.100112","DOIUrl":"10.1016/j.bdcasr.2025.100112","url":null,"abstract":"<div><h3>Introduction</h3><div>Acute cerebellitis (AC) is an inflammatory disease of the cerebellum following viral, bacterial infections, or autoimmune-mediated processes. Diagnosis and management of its complications, such as hydrocephalus, are particularly challenging in resource-limited settings. This report highlights these challenges and the successful outcome achieved with conservative medical management, averting the need for surgical intervention for AC-associated obstructive hydrocephalus.</div></div><div><h3>Case presentation</h3><div>A 10-year-old male was referred to our facility with a complaint of persistent headache for 10 days associated with cerebellar signs (wide-based gait, dysarthria, and dysmetria) and projectile vomiting. Brain MRI showed features of AC with moderate hydrocephalus. The patient was managed conservatively with intravenous ceftriaxone, dexamethasone, and acetazolamide. This led to complete clinical recovery and averted the need for surgical intervention. A follow-up MRI one-month post-treatment confirmed complete radiological resolution of both the cerebellitis and hydrocephalus.</div></div><div><h3>Conclusion</h3><div>This case underscores the importance of a high index of suspicion for AC in resource-limited settings when a child presents with headache and neurological signs. It demonstrates that medical management with steroids and acetazolamide can successfully resolve AC-associated obstructive hydrocephalus in select patients. This approach offers a viable strategy to avoid neurosurgical intervention in environments where resources are constrained.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100112"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266602","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":"Clinical characteristics for early diagnosis of PACS1 neurodevelopmental disorder: Two case reports","authors":"Ryo Takeguchi ,&nbsp;Yoshio Makita ,&nbsp;Shunsuke Haga ,&nbsp;Ikue Fukuda ,&nbsp;Akie Miyamoto ,&nbsp;Hajime Tanaka ,&nbsp;Taiga Aoki ,&nbsp;Takaya Iida ,&nbsp;Kumiko Yanagi ,&nbsp;Tadashi Kaname ,&nbsp;Satoru Takahashi","doi":"10.1016/j.bdcasr.2025.100111","DOIUrl":"10.1016/j.bdcasr.2025.100111","url":null,"abstract":"<div><h3>Background</h3><div><em>PACS1</em> neurodevelopmental disorder (<em>PACS1</em>-NDD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant disorder predominantly caused by the recurrent de novo pathogenic <em>PACS1</em> variant c.607C&gt;T (p.Arg203Trp). The characteristic features include varying degrees of global developmental delay, autism spectrum disorder (ASD), behavioral problems, and distinct facial features. Although the number of reported cases has increased, <em>PACS1</em>-NDD remains underrecognized, suggesting that many cases remain undiagnosed.</div></div><div><h3>Case presentation</h3><div>We report two Japanese pediatric patients diagnosed with <em>PACS1</em>-NDD using whole-exome sequencing (WES) and filtering analysis to identify the recurrent pathogenic variant [NM_018026.4:c.607C&gt;T,p.(Arg203Trp)]. Patient 1, a 4-year-old boy, demonstrated severe global developmental delay, ASD, behavioral problems, sleep disturbances, epilepsy, cryptorchidism, and chronic constipation. Patient 2, a 3-year-old girl, demonstrated profound global developmental delay, ASD, behavioral problems, sleep disturbances, mild cerebral atrophy, congenital heart defects, and chronic constipation. Both patients shared consistent facial features, including hypertelorism, downslanted palpebral fissures, a short nose with anteverted nares, a thin upper lip, and downturned mouth corners.</div></div><div><h3>Discussion</h3><div>This study provides critical diagnostic clues for <em>PACS1</em>-NDD to facilitate early recognition based on a combination of characteristic facial features, global developmental delays, ASD, and sleep disturbances. In addition, other systemic complications such as cryptorchidism, congenital heart defects, and chronic constipation have been frequently reported in <em>PACS1</em>-NDD. Recognizing these clinical features can strengthen the clinical indication for comprehensive genetic testing, such as WES. Early diagnosis enables tailored clinical management and genetic counseling for patients and their families.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100111"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266601","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":"Neuronal ceroid lipofuscinosis type 2 disease in a 4-year-old child with epilepsy and concerns for stuttering","authors":"Lorena Galvan ,&nbsp;Dorota Szczepaniak ,&nbsp;Bri Dingmann ,&nbsp;Emily Myers","doi":"10.1016/j.bdcasr.2025.100110","DOIUrl":"10.1016/j.bdcasr.2025.100110","url":null,"abstract":"<div><h3>Background</h3><div>Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative neuronal lysosomal storage disease associated with ataxia, seizures, vision loss, and clinical deterioration. Early diagnosis is of crucial importance to initiate early treatment with intraventricular enzyme replacement therapy. Though seizures are typically the first presenting symptom associated with CLN2, recent research suggests that language and speech delays may precede seizures.</div></div><div><h3>Case presentation</h3><div>Our case is a 4-year-old child with epilepsy who presented to our neurodevelopmental clinic with stuttering. Prior to his epilepsy diagnosis at approximately 41 months of age, the child demonstrated delayed early language milestones during infancy. Genetic and enzymatic testing confirmed the diagnosis of CLN2. We discuss his overall clinical presentation and current research regarding speech and language delays in CLN2.</div></div><div><h3>Conclusion</h3><div>There is emerging evidence that stuttering may be one of the early speech and language characterizations of children with CLN2. Our case supports this emerging evidence and may direct clinicians to recognize speech production differences as an early presentation of CLN2.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100110"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145105829","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":"Japanese siblings with neuronal ceroid lipofuscinosis type 7 showing different initial symptoms due to biallelic MFSD8 variants: A case report","authors":"Yuka Nishizawa ,&nbsp;Noriko Nishikura ,&nbsp;Takao Morimune ,&nbsp;Hiroki Sobajima ,&nbsp;Yoshihiro Maruo ,&nbsp;Mitsuko Nakashima ,&nbsp;Hirotomo Saitsu ,&nbsp;Naomichi Matsumoto ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2025.100114","DOIUrl":"10.1016/j.bdcasr.2025.100114","url":null,"abstract":"<div><h3>Background</h3><div>Neuronal ceroid lipofuscinosis type 7 (CLN7) is caused by variants in the major facilitator superfamily domain-containing protein 8 (<em>MFSD8</em>) gene. Research on gene therapy for CLN7 is currently ongoing, highlighting the importance of early diagnosis. There are very few detailed case reports on the clinical course of this disease. This report presents the case of Japanese siblings with CLN7, whose definitive diagnosis was achieved through genetic testing.</div></div><div><h3>Case presentation</h3><div>Patient 1, a 20-year-old boy (elder brother), was diagnosed with psychomotor retardation and suspected autism spectrum disorder. He developed myoclonus and epilepsy, with brain magnetic resonance imaging (MRI) revealing cerebellar atrophy at 4.5 years of age. Seizures progressed refractorily. At age 9, he had difficulty walking, and became bedridden a year later. Patient 2, a 15-year-old boy (younger brother), began falling frequently at age 4, and developed epilepsy with visual acuity reduction at age 5. Brain MRI revealed cerebellar atrophy. The seizures progressed refractorily, and myoclonus was observed at the age of 8 years. He became bedridden shortly after. Exome sequencing identified compound heterozygous variants of <em>MFSD8,</em> NM_152778.2:c.599G&gt;A, p.(Trp200*) and c.706C&gt;A, p.(Arg236Ser) leading to the diagnosis of CLN7.</div></div><div><h3>Conclusion</h3><div>In this case, a definitive diagnosis was established through genetic testing, as enzyme activity assessment and skin biopsy results were inconclusive. The diversity of the initial symptoms and the low awareness due to the rarity of the disease contributed to diagnostic delays. The accumulation of case reports is necessary, and genetic testing is highly valuable for early diagnosis.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 4","pages":"Article 100114"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145332615","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}