Journal of medical cases最新文献

{"title":"A Rare Genetic Association of an <i>NPHP2</i> Mutation With Nephronophthisis in a Child With Bombay Blood Group.","authors":"Bassil Leghrouz, Tariq Hindi, Ihab Hilo, Alex Ballout, Musa Hindiyeh","doi":"10.14740/jmc5309","DOIUrl":"10.14740/jmc5309","url":null,"abstract":"<p><p>Nephronophthisis is a rare genetic disorder affecting the kidneys and is one of the leading causes of end-stage kidney disease in children. The Bombay blood group is an extremely rare blood type that poses serious clinical challenges, particularly when managing patients with chronic kidney diseases. This report described a 3-year-old female patient who presented with severe anemia and kidney impairment, which progressed to end-stage kidney disease. During blood grouping, she was unexpectedly identified as having the Bombay phenotype, complicating her anemia management. Genetic testing revealed two novel pathogenic variants: one in the <i>NPHP2</i> gene, associated with nephronophthisis, and another in the <i>FUT1</i> gene, which is responsible for the Bombay blood group. The child received treatment involving fluid restriction and diuretic infusions. However, she subsequently progressed to end-stage kidney disease with significant fluid overload and required peritoneal dialysis. Anemia management was achieved through intravenous iron and erythropoiesis-stimulating agents (erythropoietin), eliminating the need for blood transfusions. This case underscores the rare coexistence of nephronophthisis and the Bombay blood group alongside novel mutations, highlighting the critical need for early genetic diagnosis and intervention. It also emphasizes the complexities of managing patients with such rare blood types, which complicate potential transfusion options.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"336-339"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298344","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":"Transient Supplement-Associated Thyrotoxicosis Without Persistent Hyperthyroidism: A Diagnostic Challenge in Endocrine Practice.","authors":"Pavel Stanchev, Ekaterina Babadzhanova, Boris Tilov, Maria Kraeva, Delyana Davcheva","doi":"10.14740/jmc5345","DOIUrl":"10.14740/jmc5345","url":null,"abstract":"<p><p>Thyrotoxicosis refers to the clinical state resulting from elevated thyroid hormone levels and may occur with or without underlying hyperthyroidism. Recognizing non-thyroidal and iatrogenic causes is essential for accurate diagnosis and management. A 50-year-old woman presented to a cardiologist due to complaints of palpitations. Electrocardiogram and echocardiogram were performed showing sinus tachycardia. Beta-blocker therapy was prescribed with recommendations for thyroid function testing. The laboratory tests performed in a specialized endocrine clinic confirmed transient thyrotoxicosis without hyperthyroidism and a normal ultrasound image of the thyroid gland. Upon further assessment, an iatrogenic cause was suspected as the most plausible contributing factor-the use of a nutritional supplement for menopausal symptoms containing iodine and other active substances. We present a clinical case of transient most likely supplement-associated thyrotoxicosis without persistent hyperthyroidism with subsequent normalization of thyroid function after symptomatic therapy. Exogenous iodine intake in the form of a dietary supplement is discussed as a possible trigger. The article provides information about the diagnostic and therapeutic algorithm in patients with thyrotoxicosis in the light of real clinical practice and emphasizes the importance of detailed medication and supplement history.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"365-370"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298201","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 Novel Renal Manifestation in <i>GLIS3</i>-Related Disorder in a Pediatric Patient With Cystic Nephroma.","authors":"Ibrahim Alharbi, Danah Khalid Alharbi, Razan Abdelrahim, Bayan Fawaz Alzahrani","doi":"10.14740/jmc5300","DOIUrl":"10.14740/jmc5300","url":null,"abstract":"<p><p>A 10-year-old Saudi girl with a homozygous <i>GLIS3</i> gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma. During routine surveillance, an incidental complex left renal mass was identified. Comprehensive imaging and histopathological analysis following a core needle biopsy diagnosed a benign multicystic nephroma with features of a mixed epithelial and stromal tumor (MEST). This represents a novel renal manifestation, expanding the phenotypic spectrum of <i>GLIS3</i>-related disorders beyond simple cystic dysplasia. Management favored active surveillance over surgical resection given the lesion's benign nature. The case underscores the necessity for proactive, multidisciplinary, and lifelong monitoring in patients with <i>GLIS3</i> mutations, who are at risk for evolving multisystem complications, including atypical renal neoplasms, into adolescence and adulthood.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"321-325"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298339","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":"Life-Saving Intracranial Mechanical Thrombectomy for Acute Ischemic Stroke in Pregnancy: Balancing Maternal and Fetal Risk.","authors":"Eugen Enesi, Vojsava Leka, Gentian Huti, Arben Rroji, Stela Dodaj, Klodian Caci, Asead Abdyli, Driola Hoxha, Oliatina Demiri, Besnik Filaj, Sotiraq Lako, Indrit Temali, Denisa Bajraktari, Aida Agastra, Filadelfo Coniglione, Mirel Grada, Mentor Petrela, Rudin Domi","doi":"10.14740/jmc5335","DOIUrl":"10.14740/jmc5335","url":null,"abstract":"<p><p>Stroke during pregnancy is uncommon but poses a significant threat to both mother and fetus, requiring rapid, carefully balanced interventions. We describe a 46-year-old woman at 24 weeks' gestation who presented with sudden speech difficulties, facial droop, and weakness on one side of her body. Imaging revealed an acute right middle cerebral artery occlusion, and extensive evaluation ruled out cardioembolic, thrombophilia, and vascular causes. She underwent urgent mechanical thrombectomy under monitored anesthesia care, achieving partial revascularization without complications. Her neurological function improved progressively, and both maternal and fetal outcomes were favorable. This case highlights the complexity of managing acute stroke in pregnancy, where timely decision-making must integrate standard stroke protocols with pregnancy-specific considerations, including imaging, anesthesia, and multidisciplinary care. Sharing such experiences is essential to expand knowledge on the safety and effectiveness of endovascular interventions in this rare but critical setting.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"356-364"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148297185","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":"Cephalic Venous Aneurysm and Intravascular Papillary Endothelial Hyperplasia in a Blood Donor.","authors":"Christodoulos Chatzigrigoriadis, Georgios-Eleftherios Anagnostopoulos, Dimitra Koumoundourou, Eriselda Mamullari, Kiriaki Zikou, Georgios Marios Stergiopoulos, Panagis Galiatsatos, Stavros Kakkos","doi":"10.14740/jmc5325","DOIUrl":"10.14740/jmc5325","url":null,"abstract":"<p><p>Venous aneurysms (VAs) and pseudoaneurysms (VPAs) are uncommon vascular lesions with variable etiology and location. We report a 52-year-old male blood donor who developed thrombophlebitis presenting as a right antecubital mass after multiple venipunctures. Initial duplex ultrasound revealed a saccular dilation of the right cephalic vein (15.6 × 7.8 × 25.5 mm) with thrombus, as well as thrombosis of the right brachial vein. The patient was treated with anticoagulation, followed by definitive surgical management. Histopathological examination revealed a VA, as well as intravascular papillary endothelial hyperplasia. A scoping review of PubMed and Scopus databases identified seven similar cases of upper extremity VAs or VPAs related to venipuncture or peripheral venous cannulation. To our knowledge, this is an unusual case of a right cephalic VA and intravascular papillary endothelial hyperplasia secondary to venipuncture. Current knowledge on this uncommon disease entity is summarized.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"348-355"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298258","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":"Perioperative Care of a Child With Miller-Dieker Syndrome.","authors":"Samantha A Currier, Lance M Relland, Joseph D Tobias","doi":"10.14740/jmc5320","DOIUrl":"10.14740/jmc5320","url":null,"abstract":"<p><p>Miller-Dieker syndrome (MDS), also known as Miller-Dieker lissencephaly syndrome or chromosome 17p13.3 deletion syndrome, is a rare chromosomal disorder (microdeletion syndrome) characterized by lissencephaly, altered facial features, and neurologic disability. Classic phenotypic findings include a prominent forehead, micrognathia, and a short nose. Children with MDS are often born with associated end-organ involvement including congenital heart disease as well as motor and neurologic impairments including seizures. Progressive central nervous system involvement frequently leads to upper airway and swallowing dysfunction with recurrent bouts of aspiration, pneumonia, and respiratory failure. We present a 3-year-old child with MDS who presented for anesthetic care for a cystoscopy with ureteroscopy, lithotripsy, and ureteral stent exchange. We explore the genetic history of this disorder, outline end-organ involvement with anesthetic implications, and discuss potential options for perioperative care.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"297-302"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298007","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":"Supportive Management of Severe Acetaminophen and Ibuprofen Overdose Twenty-Four Hours After Ingestion in Limited Resources Settings.","authors":"Alert Drishti, Entela Shkodrani, Rudin Domi, Ergita Nelaj, Gentian Huti, Asead Abdyli, Filadelfo Coniglione, Krenar Lilaj, Majlinda Naco, Alma Cani, Vedat Eljezi","doi":"10.14740/jmc5330","DOIUrl":"10.14740/jmc5330","url":null,"abstract":"<p><p>Acetaminophen and ibuprofen are among the most used analgesic-antipyretic agents worldwide, yet their combined overdose can become life-threatening, particularly when medical care is delayed. We report the case of a 29-year-old woman who presented to the emergency department more than 48 h after ingesting a massive dual overdose of acetaminophen (25 g) and ibuprofen (20 g). At admission, she complained of nausea, epigastric pain, tinnitus, and mild jaundice. Laboratory findings indicated severe acute liver injury, with markedly elevated transaminases, hyperbilirubinemia, significant coagulopathy, and metabolic acidosis, consistent with advanced acetaminophen toxicity. Due to the delayed presentation, the Rumack-Matthew nomogram was no longer reliable for risk assessment. Although antidotal therapy was indicated, neither N-acetylcysteine nor alternative antidotes were available, and options such as hemodialysis or liver transplantation were inaccessible. Management therefore relied entirely on intensive supportive care, including correction of metabolic disturbances, coagulopathy, and evolving organ dysfunction, alongside close clinical and biochemical monitoring. Despite the severity of hepatic failure and metabolic derangement at presentation, the patient showed gradual improvement over a prolonged hospital course. After 53 days of supportive therapy, liver function recovered sufficiently, and transplantation was not required according to King's College criteria. This case illustrates that even in severe, late-presenting combined analgesic overdose complicated by acute liver failure and metabolic acidosis, a favorable outcome may still be achieved with comprehensive supportive care alone when advanced therapies are unavailable. It underscores the pivotal role of meticulous supportive management in toxicological emergencies.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"309-320"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298228","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":"Management of a Symphyseal Multilocular Odontogenic Keratocyst.","authors":"Laurianne Giraudeau, Bruno Meymandi-Nejad, Philippe Alessi, Stephanie Carier, Anne Vidil, Fredric Denis, Laurent Estrade","doi":"10.14740/jmc5286","DOIUrl":"10.14740/jmc5286","url":null,"abstract":"<p><p>Multilocular odontogenic keratocyst (MOK) is a benign odontogenic lesion with significant aggressive behavior and a high risk of recurrence. Its occurrence in the symphyseal region is rare, with the posterior mandible being the usual site of predilection. We report the case of an MOK diagnosed incidentally in a 30-year-old female patient. Treatment consisted of endodontic therapy, complete excision via a vestibular approach, and immediate reconstruction using an autologous composite biomaterial known as \"sticky bone,\" supplemented with platelet-rich fibrin membranes. Bacteriological analysis revealed a secondary infection with <i>Actinomyces odontolyticus</i>, requiring a 3-month course of prolonged antibiotic therapy. At 3 months, follow-up examinations showed homogeneous ossification, preservation of the inferior alveolar nerve, and no evidence of recurrence. Given the high risk of recurrence, conservative marginal resection combined with the use of sticky bone allowed for reliable reconstruction. The addition of platelet-rich fibrin contributed to enhanced healing and bone maturation. The anatomical and functional outcomes are satisfactory, although long-term follow-up remains necessary. This case highlights several important clinical and therapeutic points. MOKs may be discovered incidentally and require careful radiological and histopathological evaluation for accurate diagnosis and appropriate management. Conservative marginal resection, when combined with modern biomaterials such as sticky bone, can achieve effective bone reconstruction while minimizing surgical morbidity. In addition, the adjunctive use of platelet-rich fibrin enhances soft tissue healing and promotes bone regeneration. Clinicians should also be aware that secondary infection, such as <i>Actinomyces odontolyticus</i>, may occur and can require prolonged, targeted antibiotic therapy. Finally, close multidisciplinary coordination among practitioners is essential to optimize sequential management and to reduce the need for more invasive surgical procedures.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"303-308"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148297914","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":"Aberrant Right Subclavian Artery Causing Dampening of the Right Radial Arterial Cannula Tracing Following Transesophageal Echocardiography Probe Insertion.","authors":"Osama Elazzouny, Joseph D Tobias, Ibrahim Abdullah","doi":"10.14740/jmc5322","DOIUrl":"10.14740/jmc5322","url":null,"abstract":"<p><p>An aberrant right subclavian artery (ARSA) is the most common congenital anomaly of a left aortic arch. Given the anatomical course of the ARSA, it generally remains asymptomatic throughout life without hemodynamic or respiratory effects. We report the intraoperative diagnosis of ASRA during surgery for congenital heart disease when there was dampening of the waveform from the right radial arterial cannula during transesophageal echocardiography (TEE) probe placement. The subsequent identification of ARSA highlights the importance of considering vascular anomalies in cases of unexplained intraoperative hemodynamic monitoring abnormalities during and after TEE probe insertion.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"344-347"},"PeriodicalIF":0.5,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298351","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 Case of Peripartum Cardiogenic Shock Resulting From Reverse Takotsubo Cardiomyopathy.","authors":"Nazish Tarar, Hannah Walsh, Katherine Sadaniantz, Shantel Brissett, Anna R Whelan, Lara Kovell","doi":"10.14740/jmc5324","DOIUrl":"10.14740/jmc5324","url":null,"abstract":"<p><p>Takotsubo cardiomyopathy (TCM) is characterized by transient left ventricular (LV) dysfunction that classically presents as apical ballooning with basal hyperkinesis. A recognized variant, reverse TCM, conversely is characterized by basal and mid-ventricular hypokinesis with apical sparing, often triggered by a catecholamine surge. We present a case of a woman who underwent an emergency cesarean section complicated by the development of cardiogenic shock due to TCM. She had rapid clinical improvement with restoration of systolic function and was ultimately treated with guideline-directed medical therapy with a multidisciplinary team to ensure safety while lactating. In this case, the acute onset of LV systolic dysfunction in the setting of physical stress, wall motion abnormalities in a non-ischemic distribution, and rapid clinical recovery were factors that favored TCM as a diagnosis. The diagnosis of pregnancy-associated TCM is challenging, yet differentiation from other cardiomyopathies is important to guide acute management, as well as prognosis and counseling for subsequent pregnancies.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"17 7","pages":"330-335"},"PeriodicalIF":0.5,"publicationDate":"2026-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298337","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}