Congenital toxoplasmosis is a rare cause of infantile epileptic spasm syndrome (IESS). Adrenocorticotropic hormone (ACTH) therapy, the first-line treatment for IESS, has the side effect of immunosuppression and may reactivate toxoplasmosis. However, no cases of IESS caused by congenital toxoplasmosis treated with ACTH therapy have been reported.
Case presentation
A 5-month-old Japanese infant presented with epileptic spasms and developmental regression despite partial treatment for toxoplasmosis during fetal life. Brain imaging revealed scattered calcification and polymicrogyria. The serum anti-Toxoplasma gondii IgG level was high. An electroencephalogram showed hypsarrhythmia. ACTH therapy combined with pyrimethamine, sulfadiazine, and folinic acid improved her development and hypsarrhythmia.
Conclusion
IESS caused by congenital toxoplasmosis can be treated without reactivation using ACTH therapy with antiprotozoal drugs.
{"title":"Successful treatment of infantile epileptic spasms syndrome caused by congenital toxoplasmosis with adrenocorticotropic hormone therapy: A case report","authors":"Kentaro Sano , Taku Omata , Yusuke Sasaki , Kenta Ochiai , Megumi Shiota , Shoko Hirose , Yuri Shirato , Naoko Maura , Takashi Kigawa , Ryota Hase , Hisashi Nagase , Masaya Takamoto , Kazumi Norose , Jun-ichi Takanashi","doi":"10.1016/j.bdcasr.2025.100085","DOIUrl":"10.1016/j.bdcasr.2025.100085","url":null,"abstract":"<div><h3>Background</h3><div>Congenital toxoplasmosis is a rare cause of infantile epileptic spasm syndrome (IESS). Adrenocorticotropic hormone (ACTH) therapy, the first-line treatment for IESS, has the side effect of immunosuppression and may reactivate toxoplasmosis. However, no cases of IESS caused by congenital toxoplasmosis treated with ACTH therapy have been reported.</div></div><div><h3>Case presentation</h3><div>A 5-month-old Japanese infant presented with epileptic spasms and developmental regression despite partial treatment for toxoplasmosis during fetal life. Brain imaging revealed scattered calcification and polymicrogyria. The serum anti-<em>Toxoplasma gondii</em> IgG level was high. An electroencephalogram showed hypsarrhythmia. ACTH therapy combined with pyrimethamine, sulfadiazine, and folinic acid improved her development and hypsarrhythmia.</div></div><div><h3>Conclusion</h3><div>IESS caused by congenital toxoplasmosis can be treated without reactivation using ACTH therapy with antiprotozoal drugs.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100085"},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144255268","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}
Approximately 20 % of patients with Moyamoya disease develop drug-resistant epilepsy; however, the unusual hemodynamics following revascularization surgery increase the complexity of surgical interventions.
Case
We report a case of a 9-year-old girl with Moyamoya disease who underwent revascularization surgery at the age of 2 and subsequently developed drug-resistant epilepsy characterized by focal-to-atonic seizures and startle seizures that resulted in traumatic injury. After thorough preoperative evaluations of both intracranial and extracranial hemodynamics, a safe craniotomy entry site was identified in the high frontal region. Corpus callosotomy was achieved via a small craniotomy with neuroendoscopic assistance. Postoperatively, the frequency of startle seizures decreased to levels that no longer caused trauma, and the focal-to-atonic seizures were reduced by more than 50 %.
Conclusion
Corpus callosotomy via a small craniotomy may be an effective treatment option for drug-resistant epilepsy associated with Moyamoya disease.
{"title":"Endoscope-assisted corpus callosotomy for drug-resistant epilepsy in Moyamoya disease after revascularization surgery: A case report","authors":"Maki Narui , Noritsugu Kunihiro , Takehiro Uda , Ryoko Umaba , Ichiro Kuki , Akane Shikata , Keisuke Oki , Shin Okazaki , Hiroaki Sakamoto","doi":"10.1016/j.bdcasr.2025.100086","DOIUrl":"10.1016/j.bdcasr.2025.100086","url":null,"abstract":"<div><h3>Background</h3><div>Approximately 20 % of patients with Moyamoya disease develop drug-resistant epilepsy; however, the unusual hemodynamics following revascularization surgery increase the complexity of surgical interventions.</div></div><div><h3>Case</h3><div>We report a case of <strong>a</strong> 9-year-old girl with Moyamoya disease who underwent revascularization surgery at the age of 2 and subsequently developed drug-resistant epilepsy characterized by focal-to-atonic seizures and startle seizures that resulted in traumatic injury. After thorough preoperative evaluations of both intracranial and extracranial hemodynamics, a safe craniotomy entry site was identified in the high frontal region. Corpus callosotomy was achieved via a small craniotomy with neuroendoscopic assistance. Postoperatively, the frequency of startle seizures decreased to levels that no longer caused trauma, and the focal-to-atonic seizures were reduced by more than 50 %.</div></div><div><h3>Conclusion</h3><div>Corpus callosotomy via a small craniotomy may be an effective treatment option for drug-resistant epilepsy associated with Moyamoya disease.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100086"},"PeriodicalIF":0.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221224","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}
Creatine transporter deficiency (CTD), caused by pathogenic variants of the SLC6A8 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.
Case presentation
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.
Discussion
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.
Conclusion
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.
{"title":"Ineffectiveness of creatine, glycine, and arginine supplementation in a female with creatine transporter deficiency: A case report","authors":"Mayuka Tsuchida , Kyoko Takano , Masaru Nasuno , Manami Yabe , Makoto Nishioka , Takenori Natsume , Tomoki Kaneko , 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":"2025-06-05","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}
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.
Case presentation
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 MEN1 gene (NM_001370259.2(MEN1): c.784-9G>A), leading to the diagnosis of insulinoma associated with multiple endocrine neoplasia type 1.
Conclusion
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.
{"title":"A case of pediatric insulinoma misdiagnosed as atypical epilepsy for 4 years","authors":"Rina Takano , Nozomi Hishimura , Naoya Kaneko , Megumi Endo , Takeshi Yamaguchi , Liu Zhitong , Yasuhisa Odagawa , Shohei Honda , Tatsuhiko Kakisaka , Insu Kawahara , Daisuke Kato , Ryo Morita , Daisuke Abo , Ayumi Takayanagi , Akie Nakamura , Atsushi Manabe , Kiyoshi Egawa , 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>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":"2025-06-03","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}
Uridine-responsive epileptic encephalopathy (developmental and epileptic encephalopathy-50: DEE-50) is a recently identified disorder caused by CAD gene variants. Although patients can be treated with oral uridine, early diagnosis remains challenging due to its diverse and non-specific clinical manifestations; therefore, biomarkers for early detection are awaited. We report a patient with DEE-50 presenting with progressive myoclonus epilepsy (PME) at age 12, in whom morphological abnormalities of erythrocytes, anisocytosis and poikilocytosis, were observed from an early stage despite normal hemoglobin levels.
Case presentation
The patient was a female in her 30s. At age 12, generalized tonic-clonic seizures repeatedly occurred. Examination revealed tremor, myoclonus, and ataxic gait. During the course, electroencephalography showed generalized polyspike discharges, leading to a diagnosis of PME. At the age of 14 years, she developed frequent seizures progressing to status epilepticus and became bedridden within two months. Despite a differential diagnosis, a definitive diagnosis could not be reached until age 30, when whole-exome sequencing revealed biallelic variants in the CAD gene, confirming DEE-50.
Discussion/conclusion
In this patient, structural abnormalities of erythrocytes were noted from an early stage without anemia. These abnormalities may serve as a potential biomarker for DEE-50.
{"title":"Morphological erythrocyte abnormalities as potential biomarker of uridine-responsive epileptic encephalopathy","authors":"Kazuhiro Shiraishi , Rie S. Tsuburaya , Shoichi Mukaida , Seiko Itomi , Satoshi Kajimoto , Naoko Yano , Takeshi Yoshida","doi":"10.1016/j.bdcasr.2025.100081","DOIUrl":"10.1016/j.bdcasr.2025.100081","url":null,"abstract":"<div><h3>Background</h3><div>Uridine-responsive epileptic encephalopathy (developmental and epileptic encephalopathy-50: DEE-50) is a recently identified disorder caused by <em>CAD</em> gene variants. Although patients can be treated with oral uridine, early diagnosis remains challenging due to its diverse and non-specific clinical manifestations; therefore, biomarkers for early detection are awaited. We report a patient with DEE-50 presenting with progressive myoclonus epilepsy (PME) at age 12, in whom morphological abnormalities of erythrocytes, anisocytosis and poikilocytosis, were observed from an early stage despite normal hemoglobin levels.</div></div><div><h3>Case presentation</h3><div>The patient was a female in her 30s. At age 12, generalized tonic-clonic seizures repeatedly occurred. Examination revealed tremor, myoclonus, and ataxic gait. During the course, electroencephalography showed generalized polyspike discharges, leading to a diagnosis of PME. At the age of 14 years, she developed frequent seizures progressing to status epilepticus and became bedridden within two months. Despite a differential diagnosis, a definitive diagnosis could not be reached until age 30, when whole-exome sequencing revealed biallelic variants in the <em>CAD</em> gene, confirming DEE-50.</div></div><div><h3>Discussion/conclusion</h3><div>In this patient, structural abnormalities of erythrocytes were noted from an early stage without anemia. These abnormalities may serve as a potential biomarker for DEE-50.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100081"},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144167323","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}
Pub Date : 2025-05-27DOI: 10.1016/j.bdcasr.2025.100080
Mako Miwa , Mina Yokoyama , Rintaro Ono , Miwa Ozawa , Masaaki Ogihara , Kenjiro Kosaki
Background
Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is caused by mutations in CSNK2B and is characterized by intellectual disability (ID) and early-onset epilepsy.
Case
The patient was delivered at term with no perinatal complications. Although early development was typical, delayed walking prompted a referral. Various screening tests identified no physical or laboratory abnormalities, except for traits of autism spectrum disorder (ASD). At approximately three years of age, the patient began experiencing recurrent episodes of unresponsiveness, characterized by a vacant stare. Ictal electroencephalography (EEG) revealed right temporal spike waves spreading bilaterally, leading to a diagnosis of focal onset epileptic seizures. During the same period, paroxysmal twitch-like and gross-like movements were observed. These movements occurred without epileptic discharges, leading to a diagnosis of non-epileptic seizures (NES). The patient was diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.
Subsequently, it was noted that the patient exhibited twitch-like and gross-like movements with fearful facial expressions when watching specific television programs, accompanied by phonophobia. These episodes were considered psychogenic NES (PNES), likely attributable to auditory hypersensitivity associated with ASD. The NES episodes resolved with avoidance of these television programs. At nine years of age, next-generation sequencing identified a heterozygous CSNK2B mutation, confirming the diagnosis of POBINDS. Focal onset epileptic seizures were well controlled with valproic acid and clobazam.
Discussion
This case highlights a patient with POBINDS presenting with ASD and NES due to sound hypersensitivity. The coexistence of epileptic seizures and NES in individuals with POBINDS warrants further investigation.
{"title":"A case of Poirier-Bienvenu neurodevelopmental syndrome with non-epileptic seizures, phonophobia, and autism spectrum disorder","authors":"Mako Miwa , Mina Yokoyama , Rintaro Ono , Miwa Ozawa , Masaaki Ogihara , Kenjiro Kosaki","doi":"10.1016/j.bdcasr.2025.100080","DOIUrl":"10.1016/j.bdcasr.2025.100080","url":null,"abstract":"<div><h3>Background</h3><div>Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is caused by mutations in <em>CSNK2B</em> and is characterized by intellectual disability (ID) and early-onset epilepsy.</div></div><div><h3>Case</h3><div>The patient was delivered at term with no perinatal complications. Although early development was typical, delayed walking prompted a referral. Various screening tests identified no physical or laboratory abnormalities, except for traits of autism spectrum disorder (ASD). At approximately three years of age, the patient began experiencing recurrent episodes of unresponsiveness, characterized by a vacant stare. Ictal electroencephalography (EEG) revealed right temporal spike waves spreading bilaterally, leading to a diagnosis of focal onset epileptic seizures. During the same period, paroxysmal twitch-like and gross-like movements were observed. These movements occurred without epileptic discharges, leading to a diagnosis of non-epileptic seizures (NES). The patient was diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria.</div><div>Subsequently, it was noted that the patient exhibited twitch-like and gross-like movements with fearful facial expressions when watching specific television programs, accompanied by phonophobia. These episodes were considered psychogenic NES (PNES), likely attributable to auditory hypersensitivity associated with ASD. The NES episodes resolved with avoidance of these television programs. At nine years of age, next-generation sequencing identified a heterozygous <em>CSNK2B</em> mutation, confirming the diagnosis of POBINDS. Focal onset epileptic seizures were well controlled with valproic acid and clobazam.</div></div><div><h3>Discussion</h3><div>This case highlights a patient with POBINDS presenting with ASD and NES due to sound hypersensitivity. The coexistence of epileptic seizures and NES in individuals with POBINDS warrants further investigation.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 3","pages":"Article 100080"},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154998","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}
Encephalomyeloradiculoneuropathy (EMRN), a rare autoimmune disorder characterized by both central and peripheral neuropathy, is diagnosed by the detection of anti-neutral glycolipid antibodies in the serum and cerebrospinal fluid. Despite growing recognition, management strategies particularly for relapse prevention in children, remain unclear.
Case presentation
A 6-year-old girl who was initially admitted to a local hospital for aseptic meningitis, was transferred to our hospital following rapid deterioration with altered consciousness and hypertension. Electroencephalography revealed diffuse high-amplitude slow waves and gadolinium-enhanced MRI showed contrast enhancement in the meninges of the brainstem and lumbar spinal cord. Based on the clinical course, autoimmune encephalitis was suspected, and methylprednisolone pulse therapy along with plasma exchange was administered. Although muscle weakness and loss of tendon reflexes were observed during the course of treatment, all symptoms completely resolved. Anti-lactosylceramide (LacCer), an anti-neutral glycolipid antibody, was detected in the serum and cerebrospinal fluid in the acute phase. However, because the antibody persisted in the convalescent serum and cerebrospinal fluid, regular immunoglobulin therapy was initiated. Fourteen months after treatment initiation, the antibodies disappeared from the cerebrospinal fluid and no clinical recurrence was observed.
Conclusion
This case highlights the effectiveness of intravenous immunoglobulin therapy in preventing the recurrence of pediatric EMRN, even in the presence of persistent antibodies. Further studies are needed to establish a definitive therapeutic strategy for preventing disease recurrence.
{"title":"Effective relapse prevention with monthly intravenous immunoglobulin therapy in a pediatric patient with anti-neutral glycolipid antibody-positive Encephalomyeloradiculoneuropathy","authors":"Hiroki Izumo , Yoshiyuki Kobayashi , Yuta Eguchi , Yuichi Tateishi , Satoshi Okada , Tatsuro Mutoh , Nobutsune Ishikawa","doi":"10.1016/j.bdcasr.2025.100079","DOIUrl":"10.1016/j.bdcasr.2025.100079","url":null,"abstract":"<div><h3>Background</h3><div>Encephalomyeloradiculoneuropathy (EMRN), a rare autoimmune disorder characterized by both central and peripheral neuropathy, is diagnosed by the detection of anti-neutral glycolipid antibodies in the serum and cerebrospinal fluid. Despite growing recognition, management strategies particularly for relapse prevention in children, remain unclear.</div></div><div><h3>Case presentation</h3><div>A 6-year-old girl who was initially admitted to a local hospital for aseptic meningitis, was transferred to our hospital following rapid deterioration with altered consciousness and hypertension. Electroencephalography revealed diffuse high-amplitude slow waves and gadolinium-enhanced MRI showed contrast enhancement in the meninges of the brainstem and lumbar spinal cord. Based on the clinical course, autoimmune encephalitis was suspected, and methylprednisolone pulse therapy along with plasma exchange was administered. Although muscle weakness and loss of tendon reflexes were observed during the course of treatment, all symptoms completely resolved. Anti-lactosylceramide (LacCer), an anti-neutral glycolipid antibody, was detected in the serum and cerebrospinal fluid in the acute phase. However, because the antibody persisted in the convalescent serum and cerebrospinal fluid, regular immunoglobulin therapy was initiated. Fourteen months after treatment initiation, the antibodies disappeared from the cerebrospinal fluid and no clinical recurrence was observed.</div></div><div><h3>Conclusion</h3><div>This case highlights the effectiveness of intravenous immunoglobulin therapy in preventing the recurrence of pediatric EMRN, even in the presence of persistent antibodies. Further studies are needed to establish a definitive therapeutic strategy for preventing disease recurrence.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100079"},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891534","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}
Erythromelalgia is a rare disorder characterized by erythema, warmth, and burning pain in the extremities. We report a pediatric case of erythromelalgia in a patient who developed posterior reversible encephalopathy syndrome (PRES), without any cutaneous signs.
Case presentation
A previously healthy 12-year-old girl presented to our pediatric clinic with burning extremity pain that had persisted for 6 weeks. The patient was treated with analgesics; however, the pain was refractory to these agents. Seven days after the first visit, she developed afebrile seizures and was transferred to our hospital. Her initial blood pressure was 139/105 mmHg (+2.0 SD), and brain magnetic resonance imaging revealed high intensity areas in the bilateral parietal and occipital lobes, leading to a diagnosis of PRES. Her blood pressure was difficult to control with anti-hypertensive agents. Burning pain in her extremities was relieved by cooling and worsened by warming. Although erythema was not observed in her hands or legs, erythromelalgia was suspected based on the characteristic nature of her pain. Intravenous lidocaine was administered for diagnosis, which was dramatically effective. After initiating mexiletine, the burning pain in her extremities disappeared, and hypertension improved. A final diagnosis of erythromelalgia with PRES was made.
Conclusion
A history of temperature-dependent pain relief and deterioration are important indicators of disease diagnosis, even if patients indicate a lack of erythema or warmth. Physicians should be aware that persistent pain due to erythromelalgia can lead to refractory hypertension and development of PRES.
{"title":"Erythromelalgia presenting with posterior reversible encephalopathy syndrome: A pediatric case report","authors":"Kengo Suzuki , Kazuhiro Uda , Mitsuru Tsuge , Kyosuke Arakawa , Kenji Shigehara , Takafumi Obara , Kosei Hasegawa , Hirokazu Tsukahara","doi":"10.1016/j.bdcasr.2025.100078","DOIUrl":"10.1016/j.bdcasr.2025.100078","url":null,"abstract":"<div><h3>Background</h3><div>Erythromelalgia is a rare disorder characterized by erythema, warmth, and burning pain in the extremities. We report a pediatric case of erythromelalgia in a patient who developed posterior reversible encephalopathy syndrome (PRES), without any cutaneous signs.</div></div><div><h3>Case presentation</h3><div>A previously healthy 12-year-old girl presented to our pediatric clinic with burning extremity pain that had persisted for 6 weeks. The patient was treated with analgesics; however, the pain was refractory to these agents. Seven days after the first visit, she developed afebrile seizures and was transferred to our hospital. Her initial blood pressure was 139/105 mmHg (+2.0 SD), and brain magnetic resonance imaging revealed high intensity areas in the bilateral parietal and occipital lobes, leading to a diagnosis of PRES. Her blood pressure was difficult to control with anti-hypertensive agents. Burning pain in her extremities was relieved by cooling and worsened by warming. Although erythema was not observed in her hands or legs, erythromelalgia was suspected based on the characteristic nature of her pain. Intravenous lidocaine was administered for diagnosis, which was dramatically effective. After initiating mexiletine, the burning pain in her extremities disappeared, and hypertension improved. A final diagnosis of erythromelalgia with PRES was made.</div></div><div><h3>Conclusion</h3><div>A history of temperature-dependent pain relief and deterioration are important indicators of disease diagnosis, even if patients indicate a lack of erythema or warmth. Physicians should be aware that persistent pain due to erythromelalgia can lead to refractory hypertension and development of PRES.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100078"},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143879078","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}
Sotos syndrome is a genetic disorder distinguished by distinctive facial features, cognitive challenges, and excessive growth, often accompanied by macrocephaly. Although rare, cases of subdural hematomas (SDH) have been reported.
Case presentation
We present a case of an 8-month-old boy with Sotos syndrome who presented with SDH of different stages along with an increased head circumference. The infant was born at full term with typical measurements; nevertheless, developmental delays and macrocephaly were observed during follow-up. Subsequent brain MRI revealed features typical of Sotos syndrome, and chromosomal analysis confirmed the diagnosis. Despite the presence of SDH, the patient remained asymptomatic, leading to the choice of conservative treatment.
Discussion
This case contributes to the scarce literature on SDH in Sotos syndrome and highlights the possibility of an asymptomatic presentation. While trauma and abuse are frequently considered causes of SDH among infants, exploring alternative factors such as genetic disorders is crucial.
Conclusion
Early recognition and proper monitoring of patients with Sotos syndrome are vital, particularly within the first three years of life, and can aid in managing potential complications such as SDH.
{"title":"Underlying potential prevalence of silent subdural hematoma in Sotos syndrome: A case report","authors":"Mayu Inohara, Takeshi Matsushige, Akinori Furusawa, Fumitaka Kohno, Madoka Hoshide, Shunji Hasegawa","doi":"10.1016/j.bdcasr.2025.100076","DOIUrl":"10.1016/j.bdcasr.2025.100076","url":null,"abstract":"<div><h3>Background</h3><div>Sotos syndrome is a genetic disorder distinguished by distinctive facial features, cognitive challenges, and excessive growth, often accompanied by macrocephaly. Although rare, cases of subdural hematomas (SDH) have been reported.</div></div><div><h3>Case presentation</h3><div>We present a case of an 8-month-old boy with Sotos syndrome who presented with SDH of different stages along with an increased head circumference. The infant was born at full term with typical measurements; nevertheless, developmental delays and macrocephaly were observed during follow-up. Subsequent brain MRI revealed features typical of Sotos syndrome, and chromosomal analysis confirmed the diagnosis. Despite the presence of SDH, the patient remained asymptomatic, leading to the choice of conservative treatment.</div></div><div><h3>Discussion</h3><div>This case contributes to the scarce literature on SDH in Sotos syndrome and highlights the possibility of an asymptomatic presentation. While trauma and abuse are frequently considered causes of SDH among infants, exploring alternative factors such as genetic disorders is crucial.</div></div><div><h3>Conclusion</h3><div>Early recognition and proper monitoring of patients with Sotos syndrome are vital, particularly within the first three years of life, and can aid in managing potential complications such as SDH.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100076"},"PeriodicalIF":0.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838504","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}
Monosialotetrahexosylganglioside (GM1)-gangliosidosis is a neurodegenerative lysosomal storage disorder caused by mutations in the GLB1 gene encoding the lysosomal enzyme β-galactosidase. When β-galactosidase activity is low or absent, β-linked galactose-containing glycoconjugates build up in neuronal tissue. Aspartate aminotransferase (AST) elevation alone has been reported in patients with infantile or type 1 GM1-gangliosidosis. However, serum lactate dehydrogenase (LD) elevation has not been reported. Here, we report the case of a patient with late infantile GM1-gangliosidosis and elevated serum LD levels.
Case presentation
The patient showed a developmental delay at the age of 10 months. He gradually showed pyramidal signs, followed by neurodevelopmental regression at 2 years. He experienced febrile seizures at 2 years and developed epilepsy with unremarkable interictal electroencephalogram findings at 3 years. Blood tests revealed continuous elevation of LD and AST levels without elevation of alanine aminotransferase (ALT). Lactic acid and LD levels were elevated in the cerebrospinal fluid. Brain magnetic resonance imaging at 2 years showed non-specific T2-weighted image, diffusion-weighted image, and apparent diffusion coefficient high-intensity on the deep white matter. A lysosomal enzyme activity test revealed a marked decrease in β-galactosidase activity. Genetic analysis revealed a compound heterozygous GLB1 variant, a previously reported pathogenic variant, and a novel variant of unknown significance, which is thought to result in splice loss of the canonical donor site of IVS6 of GLB1 according to in silico analysis.
Conclusion
Neurodegenerative lysosomal storage disorders such as GM1-gangliosidosis would be considered in infants with developmental delays, elevated serum LD and AST levels, and normal ALT levels.
{"title":"Elevated lactate dehydrogenase in a patient with late-infantile GM1-gangliosidosis","authors":"Kozue Kobayashi , Tatsuya Suito , Nodoka Hinokuma , Aya Narita , Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2025.100077","DOIUrl":"10.1016/j.bdcasr.2025.100077","url":null,"abstract":"<div><h3>Background</h3><div>Monosialotetrahexosylganglioside (GM1)-gangliosidosis is a neurodegenerative lysosomal storage disorder caused by mutations in the <em>GLB1</em> gene encoding the lysosomal enzyme β-galactosidase. When β-galactosidase activity is low or absent, β-linked galactose-containing glycoconjugates build up in neuronal tissue. Aspartate aminotransferase (AST) elevation alone has been reported in patients with infantile or type 1 GM1-gangliosidosis. However, serum lactate dehydrogenase (LD) elevation has not been reported. Here, we report the case of a patient with late infantile GM1-gangliosidosis and elevated serum LD levels.</div></div><div><h3>Case presentation</h3><div>The patient showed a developmental delay at the age of 10 months. He gradually showed pyramidal signs, followed by neurodevelopmental regression at 2 years. He experienced febrile seizures at 2 years and developed epilepsy with unremarkable interictal electroencephalogram findings at 3 years. Blood tests revealed continuous elevation of LD and AST levels without elevation of alanine aminotransferase (ALT). Lactic acid and LD levels were elevated in the cerebrospinal fluid. Brain magnetic resonance imaging at 2 years showed non-specific T2-weighted image, diffusion-weighted image, and apparent diffusion coefficient high-intensity on the deep white matter. A lysosomal enzyme activity test revealed a marked decrease in β-galactosidase activity. Genetic analysis revealed a compound heterozygous <em>GLB1</em> variant, a previously reported pathogenic variant, and a novel variant of unknown significance, which is thought to result in splice loss of the canonical donor site of IVS6 of <em>GLB1</em> according to in silico analysis.</div></div><div><h3>Conclusion</h3><div>Neurodegenerative lysosomal storage disorders such as GM1-gangliosidosis would be considered in infants with developmental delays, elevated serum LD and AST levels, and normal ALT levels.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100077"},"PeriodicalIF":0.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143833324","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号