Journal of Medical Case Reports最新文献

{"title":"Mechanically stable but biologically inactive Jones fracture nonunion managed without immediate revision surgery: a case report.","authors":"Koji Nozaka, Tsuyoshi Shirahata, Yusuke Yuasa, Shuntaro Harata, Manami Nakanishi, Naohisa Miyakoshi","doi":"10.1186/s13256-026-06421-0","DOIUrl":"10.1186/s13256-026-06421-0","url":null,"abstract":"<p><strong>Background: </strong>Jones fractures are prone to delayed union and nonunion because of the vascular characteristics and mechanical loading environment of the fifth metatarsal metaphyseal-diaphyseal junction. Although nonunion is often attributed to mechanical insufficiency, host-related biological and functional factors may also be clinically relevant in selected cases. We report an illustrative case of Jones fracture nonunion with maintained implant integrity and radiographic stability that united without immediate revision surgery after integrated clinical assessment and management.</p><p><strong>Case presentation: </strong>A 17-year-old male competitive basketball player sustained a zone 2 fifth metatarsal fracture and underwent acute intramedullary screw fixation. Computed tomography (CT) at injury demonstrated cortical thickening and intramedullary canal narrowing, suggesting a pre-existing stress reaction rather than a purely acute traumatic fracture. At 7 months after injury, he had persistent pain, a persistent fracture line on radiographs and CT, absence of bridging callus, and no hypertrophic response. Implant integrity and radiographic stability were maintained. Laboratory evaluation demonstrated 25-hydroxyvitamin D insufficiency (12.8 ng/mL) and elevated undercarboxylated osteocalcin (20.3 ng/mL), while bone mineral density was normal. Hip internal rotation was restricted to 5°. Immediate revision surgery was deferred after radiographic assessment of mechanical stability. Eldecalcitol, vitamin K2 supplementation, structured hip internal rotation stretching, continued low-intensity pulsed ultrasound, and activity modification were used as part of an integrated management approach. Radiographic bridging callus was observed 3 months after initiation of treatment at our institution, followed by staged return to jogging, basketball practice, and full unrestricted play after radiographic union. At 5 years, union was maintained without refracture, hip internal rotation remained 60°, and the patient was pain-free during occasional recreational basketball.</p><p><strong>Conclusions: </strong>This single case illustrates that, in carefully selected Jones fracture nonunion with maintained implant integrity and radiographic stability, metabolic evaluation and kinetic-chain assessment may be considered as part of clinical assessment before immediate revision surgery. However, causality cannot be established, and the observed union cannot be attributed to any single intervention. This report is hypothesis-generating and not evidence that host optimization can replace revision surgery.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13681947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Posterior cortical atrophy with initial psychiatric presentation: a case report.","authors":"Vivian Swane, Bo Biering-Sørensen","doi":"10.1186/s13256-026-06394-0","DOIUrl":"https://doi.org/10.1186/s13256-026-06394-0","url":null,"abstract":"<p><strong>Background: </strong>Posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome most commonly associated with atypical Alzheimer's disease. It is characterized by progressive visuospatial and visuoperceptual deficits with relative sparing of memory and language in early stages. Diagnosis is frequently delayed or missed due to clinical heterogeneity, subtle early symptoms, and limited sensitivity of routine cognitive screening tools. Psychiatric symptoms may further obscure the underlying neurological disorder. This case highlights the diagnostic challenges posed by PCA presenting in the context of prominent psychiatric symptoms, combined with a rapid clinical decline.</p><p><strong>Case presentation: </strong>A 68-year-old white Danish male presented with suicidal ideation and was initially admitted to a psychiatric ward. He had a remote history of a suicide attempt and a family history of suicide but no known neurodegenerative disease. Within a short period, severe cognitive and functional impairment became evident, dominated by visuospatial deficits, apraxia, simultanagnosia, optic ataxia, and features of Gerstmann and Balint syndromes, with relative preservation of memory and language. Neuroimaging revealed marked posterior cortical atrophy and parieto-occipitotemporal hypometabolism with sparing of the posterior cingulate cortex. Cerebrospinal fluid analysis showed mildly reduced amyloid-β1-42 and markedly elevated neurofilament light chain levels. Electroencephalography demonstrated focal posterior slowing without epileptiform activity. Extensive evaluation excluded autoimmune, epileptic, metabolic, and prion-related causes. Based on the clinical syndrome, characteristic neuroimaging findings, and supportive CSF biomarkers, a diagnosis of posterior cortical atrophy likely related to underlying Alzheimer's disease pathology was made. Disease-specific treatment was discussed but not initiated due to patient preference.</p><p><strong>Conclusions: </strong>This case illustrates how posterior cortical atrophy may be overlooked, particularly when psychiatric symptoms dominate the initial presentation. It underscores the importance of considering neurodegenerative disorders in older patients with atypical psychiatric presentations or unexplained functional decline. Early recognition of PCA is crucial for accurate diagnosis, appropriate counseling, and tailored supportive care.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13483831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148794275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A postpartum woman with recurrent headaches and transient neurological deficits: a case report.","authors":"Amanda Bianca, Amrei Beuttler, Marie-Luise Mono, Lars C Huber, Sabine Dinges","doi":"10.1186/s13256-026-06361-9","DOIUrl":"10.1186/s13256-026-06361-9","url":null,"abstract":"<p><strong>Background: </strong>Reversible cerebral vasoconstriction syndrome (RCVS) is an under-recognized clinical entity characterized by transient segmental vasoconstriction of cerebral arteries. It commonly presents with thunderclap headaches and can mimic other acute neurological conditions, often delaying diagnosis. Known risk factors include the female sex, postpartum state and exposure to vasoactive substances.</p><p><strong>Case presentation: </strong>We report the case of a 26-year-old, white woman presenting ten days postpartum with severe, recurrent headaches. Her medical history included opioid maintenance therapy and past cocaine use. Initial laboratory findings, magnetic resonance imaging (MRI) and transcranial duplex sonography (TCD) were unremarkable leading to the assumption of a multifactorial etiology of the headaches. However, 11-12 days after symptom onset, the development of new focal neurological deficits prompted repeat imaging (MRI and TCD), finally revealing basal cerebral arteries vasoconstriction and increased flow velocity consistent with RCVS. Treatment with nimodipine resulted in rapid clinical and sonographic improvement, with complete resolution of symptoms and vascular findings at 1-month follow-up.</p><p><strong>Conclusions: </strong>This case underlines the diagnostic challenges of RCVS. Clinicians should maintain a high index of suspicion for RCVS in patients presenting with acute-onset headaches and risk profiles, even in the absence of early imaging abnormalities. Early recognition and targeted treatment may improve outcomes in this potentially reversible condition.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Demyelination of the central nervous system and peripheral neuropathy associated with sintilimab treatment for lung adenocarcinoma: a case report.","authors":"Haibo Deng, Yu He, Hailong Wei, Qun Yi, Wei Luo","doi":"10.1186/s13256-026-06402-3","DOIUrl":"10.1186/s13256-026-06402-3","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitor (ICI) therapy unleashes the body's natural immune system to fight cancer. Neurological immune-related adverse events (NirAEs) are rare but can be severe.</p><p><strong>Case presentation: </strong>In this report, we present a 47-year-old man of Han ethnicity who was diagnosed with lung adenocarcinoma with intracranial metastasis. Initially, the patient underwent intracranial radiotherapy followed by first-line and maintenance chemotherapy with pemetrexed, cisplatin and bevacizumab, and a partial response was achieved without significant toxicity. After progression, the patient received second-line chemotherapy with carboplatin and albumin-bound paclitaxel as well as an ICI, sintilimab, every 28 days. After completing nine cycles of sintilimab therapy, the patient suddenly experienced lower limb paresthesia, weakness and temporary confusion. Findings from diagnostic studies, including laboratory, electrophysiological and imaging studies, combined with the clinical presentation led to the diagnosis of NirAEs, including peripheral neuropathy and demyelination of the central nervous system. Sintilimab therapy was suspended, and intravenous corticosteroid therapy was initiated, resulting in a temporary rapid resolution of all neuropathic symptoms. However, the patient died within one month after the onset of neuropathic symptoms.</p><p><strong>Conclusion: </strong>This extremely rare case of NirAEs affecting both the peripheral and central nervous systems had the worst prognosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13678948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unable to walk or eat without assistance in pregnancy-Wilson's disease in a resource-limited and conflict-affected setting: a case report.","authors":"Taco Jan Prins, Nay Win Tun, Aung Myat Min, Sarah Alison Stokes, Rose McGready","doi":"10.1186/s13256-026-06273-8","DOIUrl":"10.1186/s13256-026-06273-8","url":null,"abstract":"<p><strong>Background: </strong>Wilson's disease, an autosomal recessive disorder, affects body copper metabolism. It can be fatal if left untreated as the copper accumulation ultimately leads to liver failure, brain damage, or both. In women discontinuation of menstruation, miscarriage and impaired conception can be symptoms of Wilson's disease. Successful pregnancies in untreated patients with major symptoms are rare.</p><p><strong>Case presentation: </strong>A 30-year-old, gravidity 5, parity 4, Karen woman presented, after travelling for more than 5 h to a clinic on the Thailand-Myanmar border. Over the course of a year she progressively lost the ability to walk, sit or drink by herself. Kayser-Fleischer rings were present along with a 7-month pregnancy. Oral zinc was commenced based on a provisional diagnosis of Wilson's disease, and later switched to D-penicillamine when it could be sourced. After birthing a healthy term female baby, mum required an assistant to secure and maintain attachment for breastfeeding. After 1 year of follow-up most of the symptoms had resolved and the baby was thriving.</p><p><strong>Conclusions: </strong>A thorough physical examination remains essential for neurological presentations in resource-limited and conflict-affected settings remains key to diagnosis and life-saving treatment, including for Wilson's disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13422329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148620375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report.","authors":"Khabab Abbasher Hussien Mohamed Ahmed, Razan Kamal Yousif Ahmed","doi":"10.1186/s13256-026-06351-x","DOIUrl":"10.1186/s13256-026-06351-x","url":null,"abstract":"<p><strong>Background: </strong>DNAJC6-related juvenile parkinsonism is a rare autosomal recessive disorder of auxilin, a co-chaperone essential for clathrin-mediated synaptic vesicle recycling. Fewer than 50 kindreds have been reported worldwide, and the condition is easily missed when first-line investigations come back normal. We describe a Sudanese adolescent in whom a previously unreported homozygous DNAJC6 frameshift variant was identified only after a prolonged diagnostic journey that included a period during which her illness was mistakenly attributed to a functional neurological disorder. Clinical whole-exome sequencing additionally returned an incidental medically actionable BRCA1 secondary finding.</p><p><strong>Case presentation: </strong>A 13-year-old Sudanese girl, the eldest child of first-cousin parents, was born preterm and ventilated neonatally for severe respiratory distress. Her development was normal until age five, when an isolated upper-limb tremor first appeared. Over the next 8 years her condition progressed into severe juvenile parkinsonism: bilateral rest-and-action tremor, rigidity, bradykinesia, generalized dystonia with prominent oromandibular involvement, dysphagia, profound cachexia, cognitive and behavioral decline, sleep and autonomic disturbance, episodic oculogyric crises and three discrete seizures. By approximately 11 she was wheelchair-dependent. Earlier, unrevealing investigations had led to a psychiatric diagnosis of functional neurological disorder, and the dopamine antagonists prescribed on that basis worsened her condition. Whole-exome sequencing later identified a novel homozygous DNAJC6 frameshift deletion (NM_001256864.2:c.1480del; p.Glu494ArgfsTer12), absent from population databases, alongside a heterozygous pathogenic BRCA1 deletion reported as an actionable secondary finding. Levodopa produced partial motor benefit, complicated by on-state dyskinesias, visual hallucinations and excessive daytime somnolence. Subsequent up-titration of carbidopa/levodopa to approximately 5-hourly dosing produced a further, clinically evident improvement in gait and fine-motor function.</p><p><strong>Conclusions: </strong>This case adds a previously unreported allele to the DNAJC6 catalog and characterizes the severe end of its phenotype, where corticospinal signs and life-threatening cachexia accompany the more familiar extrapyramidal features. It illustrates the harm that follows premature labeling of a progressive organic movement disorder as functional, especially when dopamine antagonists are then prescribed. The accompanying pathogenic BRCA1 secondary finding shows the dual diagnostic yield that clinical whole-exome sequencing can deliver. Early genetic investigation in childhood-onset movement disorders, particularly with consanguinity, should be the rule, and cascade pathways for actionable secondary findings embedded in routine practice.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13679260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bilateral lung infiltration secondary to ruptured pulmonary hydatid cyst: a case report.","authors":"Mohammad Javad Fallahi, Parnian Mansouri","doi":"10.1186/s13256-025-05666-5","DOIUrl":"10.1186/s13256-025-05666-5","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary hydatid cyst rupture is a rare but serious complication of Echinococcus granulosus infection, often presenting with acute respiratory distress and mimicking pneumonia or eosinophilic lung disease. Early diagnosis and appropriate management are essential to prevent complications.</p><p><strong>Case presentation: </strong>A 44-year-old Persian woman presented with sudden-onset dyspnea, productive cough, and high-grade fever. Imaging revealed a multilayered cyst in the left lung with bilateral infiltrations. Serologic testing confirmed Echinococcus granulosus infection. The patient was treated with antibiotics and albendazole, followed by surgical cyst resection after 6 months. She remained asymptomatic 1 year postoperatively.</p><p><strong>Conclusion: </strong>Ruptured pulmonary hydatid cysts can mimic severe lung infections. A combination of imaging, serology, and medical-surgical management ensures optimal outcomes, especially in endemic regions.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"20 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13390448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148562304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.","authors":"Qing-Bo Shen, Xin Feng, Ai-Ping Min, Hong-Mei Xu, Yan-Xia Tian, Gui-Ying Fan, Li-Hua Zou","doi":"10.1186/s13256-026-06316-0","DOIUrl":"10.1186/s13256-026-06316-0","url":null,"abstract":"<p><strong>Background: </strong>Kabuki syndrome (KS) is an autosomal dominant syndrome involving multiple organs and systems and can be caused by mutation in KMT2D and KDM6A genes.</p><p><strong>Case report: </strong>Here, we report the case of a pregnant woman who underwent prenatal family full-exon sequencing due to fetal multi-system abnormalities on ultrasound. Analysis revealed that the fetus had two rare congenital diseases: KS type 1 caused by mutation in the KMT2D and primary carnitine deficiency caused by mutation in the SLC22A5 gene, thus enriching our understanding of the prenatal ultrasound phenotype and gene mutation spectrum of KS. This case of fetal KS was caused by a novel frameshift mutation at the KMT2D gene locus c.14132_14133del which is not included in the ClinVar or Human Gene Mutation Database (HGMD) professional databases.</p><p><strong>Conclusion: </strong>Prenatal ultrasound findings of KS are not unique, and the pathogenic genes associated with KS cannot be detected by conventional karyotype/microarray analyses. Consequently, the prenatal diagnosis of KS remains very difficult. However, whole-exome sequencing is recommended when multiple system abnormalities are present, routine testing is negative, and there is a high suspicion of a monogenic disorder. This strategy will identify fetal gene deletion or mutation early, allow informed genetic counselling, and help reduce the incidence of adverse pregnancy outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13663172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe hyperglycemic hyperosmolar state complicated by diabetic ketoacidosis and rhabdomyolysis in an obese adolescent patient: a case report.","authors":"Hongwei Wang, Fenhua Wang, Bin Yu, Jinghao Zhao, Shuang Han","doi":"10.1186/s13256-026-06396-y","DOIUrl":"10.1186/s13256-026-06396-y","url":null,"abstract":"<p><strong>Background: </strong>In the pediatric population, glucose metabolism-associated disorders most commonly manifest as diabetic ketoacidosis (DKA). Hyperglycemic hyperosmolar state (HHS) is a rare yet potentially grave condition in children that may coexist with DKA. Early identification is paramount to the effective management of both conditions. Consequently, each documented case contributes meaningfully to expanding the understanding and vigilance of pediatricians regarding acute diabetic complications.</p><p><strong>Case presentation: </strong>We describe an obese 13-year-old Chinese girl presenting with moderate DKA, characterized by exceedingly high blood glucose levels large urine ketones (4+), venous pH < 7.2, serum bicarbonate < 18 mmol/L, and concomitant rhabdomyolysis. Given the severe hyperosmolarity (peculiar to DKA) and extreme hyperglycemia, she was diagnosed with mixed DKA-HHS. The patient responded favorably to fluid resuscitation and insulin administration; therefore, she was discharged in good general condition without residual complications and was followed up with insulin therapy. We elaborated on her clinical course in detail, with a review of the relevant literature.</p><p><strong>Conclusions: </strong>Recent guidelines from the International Society for Pediatric and Adolescent Diabetes (ISPAD) provide updated recommendations for the diagnosis and therapeutic management of DKA and HHS in children and adolescents. Early recognition and prompt treatment are highly emphasized in the guidelines to prevent complications and improve outcomes. The detailed account of this case may offer clinically pertinent insights to inform the development of future consensus statements.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoparathyroidism-related Fahr syndrome presenting with new-onset seizures: a case report.","authors":"Sishir Poudel, Laxman Wagle, Aashutosh Jha, Rashmita Regmi, Ayushma Dhungana","doi":"10.1186/s13256-026-06342-y","DOIUrl":"10.1186/s13256-026-06342-y","url":null,"abstract":"<p><strong>Background: </strong>Hypocalcemia secondary to hypoparathyroidism can cause basal ganglia calcification which can act as epileptogenic focus and produce neuropsychiatric manifestations. This is termed Fahr syndrome.</p><p><strong>Case presentation: </strong>A 36-year-old Nepalese female with hypoparathyroidism and history of anxiety disorder presented with generalized seizures. She was found to have bilateral calcification in brain consistent with Fahr syndrome. She was successfully managed with calcium and calcitriol supplementation.</p><p><strong>Conclusion: </strong>This case highlights the need for recognizing basal ganglia calcification as an additional cause of seizures in hypoparathyroidism, in addition to hypocalcemia.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}