Takayasu arteritis (TA) is a chronic, idiopathic, granulomatous large-vessel vasculitis that primarily affects the aorta and its major branches, representing a significant cause of vascular morbidity in children and young adults. Stroke is an uncommon but recognized complication of TA and may occasionally be the presenting feature. Crossed aphasia in a dextral (right-handed) patient, aphasia resulting from a right-hemisphere lesion, is particularly rare. We report the case of a 10-year-old right-handed girl who presented with sudden-onset expressive language disturbance and left-sided weakness. Physical examination revealed a discrepancy in upper-limb pulse and blood pressure, bilateral carotid bruits, and left-sided hemiparesis. Brain CT demonstrated a right middle cerebral artery (MCA) territory infarct, while vascular imaging showed marked bilateral common carotid artery wall thickening with severe luminal narrowing and an intraluminal thrombus on the right. Inflammatory markers were elevated. The patient met the ACR/EULAR classification criteria for Takayasu arteritis and was categorized as Numano type I. She received antithrombotic therapy and high-dose oral corticosteroids. At two-month follow-up, there was partial recovery of language but persistent left-sided weakness.
{"title":"Stroke as the initial presentation of Takayasu’s arteritis in a 10-year-old girl: A case report","authors":"Filimon Getaneh Assefa , Suleiman Ayalew Belay , Belachew Wolellaw Bezie , Kedir Workye Muhamed , Bewketu Tadese Baines , Ayalsew Zerihun Damessa , Biniyam Mequanent Sileshi , Alazar Amlaku Teshager","doi":"10.1016/j.hmedic.2025.100409","DOIUrl":"10.1016/j.hmedic.2025.100409","url":null,"abstract":"<div><div>Takayasu arteritis (TA) is a chronic, idiopathic, granulomatous large-vessel vasculitis that primarily affects the aorta and its major branches, representing a significant cause of vascular morbidity in children and young adults. Stroke is an uncommon but recognized complication of TA and may occasionally be the presenting feature. Crossed aphasia in a dextral (right-handed) patient, aphasia resulting from a right-hemisphere lesion, is particularly rare. We report the case of a 10-year-old right-handed girl who presented with sudden-onset expressive language disturbance and left-sided weakness. Physical examination revealed a discrepancy in upper-limb pulse and blood pressure, bilateral carotid bruits, and left-sided hemiparesis. Brain CT demonstrated a right middle cerebral artery (MCA) territory infarct, while vascular imaging showed marked bilateral common carotid artery wall thickening with severe luminal narrowing and an intraluminal thrombus on the right. Inflammatory markers were elevated. The patient met the ACR/EULAR classification criteria for Takayasu arteritis and was categorized as Numano type I. She received antithrombotic therapy and high-dose oral corticosteroids. At two-month follow-up, there was partial recovery of language but persistent left-sided weakness.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100409"},"PeriodicalIF":0.0,"publicationDate":"2025-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738017","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 : 2025-12-05DOI: 10.1016/j.hmedic.2025.100410
Demver P. Gomez, Wilmyr F. Hababag
Background
Gastrointestinal tuberculosis (GI TB) is a rare form of extrapulmonary TB that often mimics Crohn’s disease (CD) due to overlapping clinical, endoscopic, and histopathologic features. We present a case of GI TB that initially manifested as a perianal fistula, an atypical presentation for TB but commonly seen in CD. Familiarity with this presentation is essential to ensure timely diagnosis and appropriate management, particularly in TB endemic regions.
Case summary
A 38-year-old male from the Philippines presented with a 4-year history of chronic perianal fistula and recurrent rectal pain, initially diagnosed as CD based on findings from three colonoscopies and biopsies showing non-caseating granulomas. MTB GeneXpert and mycobacterial cultures were consistently negative. He was treated with antibiotics, corticosteroids, and biologic therapy, but showed no clinical improvement. One month later, he returned with persistent symptoms and sudden onset jaundice, accompanied by marked elevation of liver enzymes. Imaging revealed hepatosplenomegaly, hepatic nodules, and lymphadenopathy. A fourth colonoscopy with biopsy demonstrated caseating granulomas and Langhans giant cells, confirming tuberculous ileitis. Anti-tuberculosis therapy was initiated, resulting in significant clinical and biochemical improvement, including normalization of liver enzymes and closure of the perianal fistulas.
Conclusion
This case highlights the diagnostic challenge of distinguishing GI TB from Crohn’s disease in TB endemic regions. A high index of suspicion for TB must be maintained before initiating biologic therapy. Histopathologic confirmation and careful clinical correlation are essential for accurate diagnosis and appropriate treatment.
{"title":"TB or not to be: A case of atypical gastrointestinal tuberculosis mimicking Crohn’s disease – A case report","authors":"Demver P. Gomez, Wilmyr F. Hababag","doi":"10.1016/j.hmedic.2025.100410","DOIUrl":"10.1016/j.hmedic.2025.100410","url":null,"abstract":"<div><h3>Background</h3><div>Gastrointestinal tuberculosis (GI TB) is a rare form of extrapulmonary TB that often mimics Crohn’s disease (CD) due to overlapping clinical, endoscopic, and histopathologic features. We present a case of GI TB that initially manifested as a perianal fistula, an atypical presentation for TB but commonly seen in CD. Familiarity with this presentation is essential to ensure timely diagnosis and appropriate management, particularly in TB endemic regions.</div></div><div><h3>Case summary</h3><div>A 38-year-old male from the Philippines presented with a 4-year history of chronic perianal fistula and recurrent rectal pain, initially diagnosed as CD based on findings from three colonoscopies and biopsies showing non-caseating granulomas. MTB GeneXpert and mycobacterial cultures were consistently negative. He was treated with antibiotics, corticosteroids, and biologic therapy, but showed no clinical improvement. One month later, he returned with persistent symptoms and sudden onset jaundice, accompanied by marked elevation of liver enzymes. Imaging revealed hepatosplenomegaly, hepatic nodules, and lymphadenopathy. A fourth colonoscopy with biopsy demonstrated caseating granulomas and Langhans giant cells, confirming tuberculous ileitis. Anti-tuberculosis therapy was initiated, resulting in significant clinical and biochemical improvement, including normalization of liver enzymes and closure of the perianal fistulas.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenge of distinguishing GI TB from Crohn’s disease in TB endemic regions. A high index of suspicion for TB must be maintained before initiating biologic therapy. Histopathologic confirmation and careful clinical correlation are essential for accurate diagnosis and appropriate treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100410"},"PeriodicalIF":0.0,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738016","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 : 2025-12-04DOI: 10.1016/j.hmedic.2025.100408
Shirley Lo-A-Njoe , Liselot van der Laan , Alex V. Postma , Anouk van Doorn , Ginette Ecury , Mieke M. van Haelst
We present a premature female neonate diagnosed with a rare multiple congenital anomalies (MCA) syndrome resulting from a 3q11.1-q21.3 deletion. This MCA disorder is characterized by developmental delay, brain anomalies (mainly agenesis of corpus callosum), characteristic facial features (short philtrum, protruding lips), and urogenital anomalies. In addition, the girl also exhibited unresponsive fatal persistent pulmonary hypertension of the neonate (PPHN). Diagnosis of chromosome 3q deletion was confirmed through comprehensive molecular analyses and PPHN through echocardiography. Management strategies were tailored to the specific phenotype presentation, with focus on providing support and comfort for the patient and the available treatment options for PPHN in our local setting. Despite intensive medical interventions, the patient died because of refractory PPHN in the neonatal period. To our knowledge, this is the first case with fatal PPHN in a patient with chromosome a 3q11.1-q21.3 deletion and the largest deletion thus far reported.
{"title":"Fatal persistent pulmonary hypertension as part of 3q11.1-q21.3 deletion syndrome?","authors":"Shirley Lo-A-Njoe , Liselot van der Laan , Alex V. Postma , Anouk van Doorn , Ginette Ecury , Mieke M. van Haelst","doi":"10.1016/j.hmedic.2025.100408","DOIUrl":"10.1016/j.hmedic.2025.100408","url":null,"abstract":"<div><div>We present a premature female neonate diagnosed with a rare multiple congenital anomalies (MCA) syndrome resulting from a 3q11.1-q21.3 deletion. This MCA disorder is characterized by developmental delay, brain anomalies (mainly agenesis of corpus callosum), characteristic facial features (short philtrum, protruding lips), and urogenital anomalies. In addition, the girl also exhibited unresponsive fatal persistent pulmonary hypertension of the neonate (PPHN). Diagnosis of chromosome 3q deletion was confirmed through comprehensive molecular analyses and PPHN through echocardiography. Management strategies were tailored to the specific phenotype presentation, with focus on providing support and comfort for the patient and the available treatment options for PPHN in our local setting. Despite intensive medical interventions, the patient died because of refractory PPHN in the neonatal period. To our knowledge, this is the first case with fatal PPHN in a patient with chromosome a 3q11.1-q21.3 deletion and the largest deletion thus far reported.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100408"},"PeriodicalIF":0.0,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145685077","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 : 2025-12-03DOI: 10.1016/j.hmedic.2025.100395
Fiza Shafi , Muhammad Usama bin Shabbir , Amna Tabassum , Muhammad Bilawal Abbas JanJua , Hameer Saif Talpur
Insulinoma is a rare pancreatic neuroendocrine tumor, known for its elusive nature, often resulting in delayed diagnosis. Patients typically present with classic symptoms of hypoglycemia; however, gradually, they may adapt to persistently low blood glucose levels, resulting in blunted adrenergic responses. This adaptation can mask key symptoms and lead to a misleading clinical picture. Both body habitus and specific biochemical tests may also present challenges in establishing a diagnosis. We report a case of an insulinoma that exhibited atypical clinical features, unusual laboratory results, and remarkable adaptation to severe hypoglycemia, resulting in neurological manifestations and a prolonged diagnostic delay. A 48 years old female patient presented with occasional neurological episodes of unconsciousness and slurred speech. Three years prior, she reported multiple episodes of diaphoresis, lightheadedness with feelings of anxiety and nervousness. She sought her primary care physician and was found to have severe fasting and postprandial hypoglycemia. Over time, these symptoms became less severe and then vanished. She was symptom-free for the next two years and then she began to have infrequent episodes of unconsciousness with slurring of speech, mimicking cerebrovascular events. No neurological etiology was identified to explain her presentation and it was suspected that her symptoms were due to severe hypoglycemia. So, a series of biochemical investigations were performed to determine the underlying cause of hypoglycemia, but they yielded inconclusive results. Contrast enhanced computed tomography of abdomen revealed a pancreatic lesion later confirmed as an insulinoma. She underwent surgical enucleation, which led to significant clinical improvement. In conclusion, this case report demonstrates that insulinomas may pose diagnostic and management challenges due to their unusual presentations and sometimes inconclusive biochemical test results. It also highlights the need to consider advanced imaging early in cases of prolonged hypoglycemia, particularly when initial imaging studies are indeterminate.
{"title":"A diagnostic dilemma: Insulinoma presenting with normal insulin and c-peptide levels in a thin, lean female","authors":"Fiza Shafi , Muhammad Usama bin Shabbir , Amna Tabassum , Muhammad Bilawal Abbas JanJua , Hameer Saif Talpur","doi":"10.1016/j.hmedic.2025.100395","DOIUrl":"10.1016/j.hmedic.2025.100395","url":null,"abstract":"<div><div>Insulinoma is a rare pancreatic neuroendocrine tumor, known for its elusive nature, often resulting in delayed diagnosis. Patients typically present with classic symptoms of hypoglycemia; however, gradually, they may adapt to persistently low blood glucose levels, resulting in blunted adrenergic responses. This adaptation can mask key symptoms and lead to a misleading clinical picture. Both body habitus and specific biochemical tests may also present challenges in establishing a diagnosis. We report a case of an insulinoma that exhibited atypical clinical features, unusual laboratory results, and remarkable adaptation to severe hypoglycemia, resulting in neurological manifestations and a prolonged diagnostic delay. A 48 years old female patient presented with occasional neurological episodes of unconsciousness and slurred speech. Three years prior, she reported multiple episodes of diaphoresis, lightheadedness with feelings of anxiety and nervousness. She sought her primary care physician and was found to have severe fasting and postprandial hypoglycemia. Over time, these symptoms became less severe and then vanished. She was symptom-free for the next two years and then she began to have infrequent episodes of unconsciousness with slurring of speech, mimicking cerebrovascular events. No neurological etiology was identified to explain her presentation and it was suspected that her symptoms were due to severe hypoglycemia. So, a series of biochemical investigations were performed to determine the underlying cause of hypoglycemia, but they yielded inconclusive results. Contrast enhanced computed tomography of abdomen revealed a pancreatic lesion later confirmed as an insulinoma. She underwent surgical enucleation, which led to significant clinical improvement. In conclusion, this case report demonstrates that insulinomas may pose diagnostic and management challenges due to their unusual presentations and sometimes inconclusive biochemical test results. It also highlights the need to consider advanced imaging early in cases of prolonged hypoglycemia, particularly when initial imaging studies are indeterminate.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100395"},"PeriodicalIF":0.0,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738014","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 : 2025-12-01DOI: 10.1016/j.hmedic.2025.100391
Omar F. Hassan , Mohammad Numan , Syed Rizvi
Sarcoidosis is a multisystem granulomatous disorder that can involve any organ, most commonly the lungs. However, a minority of the patients (8 %) presents with extrapulmonary disease that spares the lungs. Although clinically significant cardiac sarcoidosis is a rare occurrence in the absence of lung involvement, it is associated with life-threatening complications. We present a case of de novo cardiac sarcoidosis. The patient presented with symptoms of heart failure and resistant ventricular tachycardia. Fortunately, he responded well to anti-failure medications. Ventricular tachycardia subsided only after starting steroids. Further follow-up was not possible as the patient returned to his home country. Our report highlights the importance of considering cardiac sarcoidosis as a differential diagnosis in patients who present with unexplained heart failure and arrhythmias.
{"title":"De novo cardiac sarcoidosis presenting as heart failure and resistant ventricular tachycardia\": A case report","authors":"Omar F. Hassan , Mohammad Numan , Syed Rizvi","doi":"10.1016/j.hmedic.2025.100391","DOIUrl":"10.1016/j.hmedic.2025.100391","url":null,"abstract":"<div><div>Sarcoidosis is a multisystem granulomatous disorder that can involve any organ, most commonly the lungs. However, a minority of the patients (8 %) presents with extrapulmonary disease that spares the lungs. Although clinically significant cardiac sarcoidosis is a rare occurrence in the absence of lung involvement, it is associated with life-threatening complications. We present a case of de novo cardiac sarcoidosis. The patient presented with symptoms of heart failure and resistant ventricular tachycardia. Fortunately, he responded well to anti-failure medications. Ventricular tachycardia subsided only after starting steroids. Further follow-up was not possible as the patient returned to his home country. Our report highlights the importance of considering cardiac sarcoidosis as a differential diagnosis in patients who present with unexplained heart failure and arrhythmias.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100391"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617144","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 : 2025-12-01DOI: 10.1016/j.hmedic.2025.100393
Dennis Poon , Hilary Kok
Described here is a case of small bowel obstruction secondary to ileo-ileal intussusception of a rare aetiology in a 34-year-old female presented with acute abdominal pain and vomiting. Ultrasound scan of her hepatobiliary system only showed two small gallbladder polyps with no biliary ductal dilatation, gastroscopy showed mild oesophagitis and gastritis in the antrum and endoscopic ultrasound confirmed the two gallbladder polyps and a normal common bile duct. Computed tomography was performed in view of her persistent symptoms and revealed small bowel obstruction. An intraluminal lesion at 110 cm from the ileocaecal valve was palpable intra-operatively and ileal resection was performed. Histological features of the resected lesion confirmed an inflammatory fibroid polyp. A small number of cases reports on adult patients presented with bowel obstruction can be found in the literature and this rare aetiology should be considered as one of the differentials in the diagnostic process in managing this patient cohort.
{"title":"A rare case of intussusception in an adult caused by a small intestinal inflammatory fibroid polyp","authors":"Dennis Poon , Hilary Kok","doi":"10.1016/j.hmedic.2025.100393","DOIUrl":"10.1016/j.hmedic.2025.100393","url":null,"abstract":"<div><div>Described here is a case of small bowel obstruction secondary to ileo-ileal intussusception of a rare aetiology in a 34-year-old female presented with acute abdominal pain and vomiting. Ultrasound scan of her hepatobiliary system only showed two small gallbladder polyps with no biliary ductal dilatation, gastroscopy showed mild oesophagitis and gastritis in the antrum and endoscopic ultrasound confirmed the two gallbladder polyps and a normal common bile duct. Computed tomography was performed in view of her persistent symptoms and revealed small bowel obstruction. An intraluminal lesion at 110 cm from the ileocaecal valve was palpable intra-operatively and ileal resection was performed. Histological features of the resected lesion confirmed an inflammatory fibroid polyp. A small number of cases reports on adult patients presented with bowel obstruction can be found in the literature and this rare aetiology should be considered as one of the differentials in the diagnostic process in managing this patient cohort.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100393"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617143","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 : 2025-12-01DOI: 10.1016/j.hmedic.2025.100388
Zoungrana Jacques , Somé Dogbèponé , Da Léa , Lankoande Diagniagou , Kabore D. Odilon , Sougue Yaya , Diallo Ismaël , Ouédraogo Abdoul Salam , Poda Armel
Tetanus is a disease characterized by generalized muscle contractures and can be potentially serious, especially in tropical environments where it requires specialized care. Mortality is often associated with neurovegetative and infectious complications. Thrombotic and bacteremic complications are exceedingly rare in this disease, and to our knowledge, their association with generalized tetanus has not been previously described. We present a case of generalized tetanus complicated by venous thrombosis of the left leg and E. coli bacteremia.
{"title":"Bacteremia and venous thrombosis of the lower limb complicating a case of acute generalized tetanus","authors":"Zoungrana Jacques , Somé Dogbèponé , Da Léa , Lankoande Diagniagou , Kabore D. Odilon , Sougue Yaya , Diallo Ismaël , Ouédraogo Abdoul Salam , Poda Armel","doi":"10.1016/j.hmedic.2025.100388","DOIUrl":"10.1016/j.hmedic.2025.100388","url":null,"abstract":"<div><div>Tetanus is a disease characterized by generalized muscle contractures and can be potentially serious, especially in tropical environments where it requires specialized care. Mortality is often associated with neurovegetative and infectious complications. Thrombotic and bacteremic complications are exceedingly rare in this disease, and to our knowledge, their association with generalized tetanus has not been previously described. We present a case of generalized tetanus complicated by venous thrombosis of the left leg and <em>E. coli</em> bacteremia.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100388"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617145","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 : 2025-11-28DOI: 10.1016/j.hmedic.2025.100404
Mohammad Qureshi , Jamie Sloan , Sunpreet Rakhra , Gurpreet Gandhoke , Stephanie A. Kolakowsky-Hayner
Intracranial germ cell tumors, in locations other than the suprasellar and pineal area, are rare and typically present in children and adolescents. There is a dearth of literature regarding the presentation and treatment of germ cell tumors, particularly in adults. We present the case history, management, and 2-year follow up imaging of a 33-year-old male presenting with headaches and diabetes insipidus. On investigation, multiple tumors were found in the pineal, sellar region, posterior falcine area, and the frontal lobe on enhanced MRI. Stereotactic biopsy of the most accessible lesion was performed. Immunological analysis revealed tumor cells positive for OCT 3/4, CD117, CD10, D2–40 and dot-like CAM5.2. The patient was treated with BEP (Bleomycin + Etoposide + Cisplatin) chemotherapy and cranio-spinal proton beam radiation with significant reduction of tumor burden and no local recurrence or distant metastasis at 24 months. Timely diagnosis and excellent response to chemo-radiation helped avoid invasive and morbid surgical interventions. This case enhances the understanding of timely diagnosis and initiation of treatment for central nervous system germ cell tumors.
{"title":"Multicentric intracranial germinomas – Case report","authors":"Mohammad Qureshi , Jamie Sloan , Sunpreet Rakhra , Gurpreet Gandhoke , Stephanie A. Kolakowsky-Hayner","doi":"10.1016/j.hmedic.2025.100404","DOIUrl":"10.1016/j.hmedic.2025.100404","url":null,"abstract":"<div><div>Intracranial germ cell tumors, in locations other than the suprasellar and pineal area, are rare and typically present in children and adolescents. There is a dearth of literature regarding the presentation and treatment of germ cell tumors, particularly in adults. We present the case history, management, and 2-year follow up imaging of a 33-year-old male presenting with headaches and diabetes insipidus. On investigation, multiple tumors were found in the pineal, sellar region, posterior falcine area, and the frontal lobe on enhanced MRI. Stereotactic biopsy of the most accessible lesion was performed. Immunological analysis revealed tumor cells positive for OCT 3/4, CD117, CD10, D2–40 and dot-like CAM5.2. The patient was treated with BEP (Bleomycin + Etoposide + Cisplatin) chemotherapy and cranio-spinal proton beam radiation with significant reduction of tumor burden and no local recurrence or distant metastasis at 24 months. Timely diagnosis and excellent response to chemo-radiation helped avoid invasive and morbid surgical interventions. This case enhances the understanding of timely diagnosis and initiation of treatment for central nervous system germ cell tumors.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100404"},"PeriodicalIF":0.0,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738015","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 : 2025-11-27DOI: 10.1016/j.hmedic.2025.100406
Joelle Milan , Bashir Bassile , Bachir Elias
Introduction
Chordomas are rare bone neoplasms that arise from the remnants of the embryonic notochord. Although chordomas are rare, slow to grow and have low metastatic potential, they can be fatal if diagnosed late or misdiagnosed.
Case report
We present the case of a 65 years old male patient who presented for pain and discomfort in his buttocks area mainly upon sitting. He had previously undergone three surgeries for resection of what was diagnosed as a pilonidal sinus from the buttock area in a different hospital. After a CT scan being in favor of a developmental cyst, once again surgical resection was done.
Postoperative immunohistopathological studies identified the mass as a differentiated conventional type chordoma. In light of these findings, our patient was referred for metastatic workup, radiotherapy and chemotherapy.
Discussion
Their vague symptomatology can lead to frequent misdiagnosis of chordomas. CT scan can easily cause confusion between a benign pilonidal/developmental cyst and a slow growing chordoma. To date, total resection of chordomas is the gold standard of treatment, however, pre-operative biopsy and MRI should be implemented whenever chordoma is among the differentials. Determining the presence of metastasis and assessing local invasions are needed to decide on an appropriate surgical resection (total or partial) and assess the need of chemical (i.e. imatinib mesylate) or radiological treatment.
Conclusion
Sacrococcygeal chordomas are rare tumors that are usually misdiagnosed and mismanaged. Imaging can be very helpful in aiding the diagnosis with known suggestive findings especially on MRI. Wide surgical excision is still the ultimate treatment while the use of carbon/photon/hardon radiotherapy and imatinib mesylate is promising.
{"title":"Sacrococcygeal chondroma misdiagnosed as pilonidal sinus: A case report","authors":"Joelle Milan , Bashir Bassile , Bachir Elias","doi":"10.1016/j.hmedic.2025.100406","DOIUrl":"10.1016/j.hmedic.2025.100406","url":null,"abstract":"<div><h3>Introduction</h3><div>Chordomas are rare bone neoplasms that arise from the remnants of the embryonic notochord. Although chordomas are rare, slow to grow and have low metastatic potential, they can be fatal if diagnosed late or misdiagnosed.</div></div><div><h3>Case report</h3><div>We present the case of a 65 years old male patient who presented for pain and discomfort in his buttocks area mainly upon sitting. He had previously undergone three surgeries for resection of what was diagnosed as a pilonidal sinus from the buttock area in a different hospital. After a CT scan being in favor of a developmental cyst, once again surgical resection was done.</div><div>Postoperative immunohistopathological studies identified the mass as a differentiated conventional type chordoma. In light of these findings, our patient was referred for metastatic workup, radiotherapy and chemotherapy.</div></div><div><h3>Discussion</h3><div>Their vague symptomatology can lead to frequent misdiagnosis of chordomas. CT scan can easily cause confusion between a benign pilonidal/developmental cyst and a slow growing chordoma. To date, total resection of chordomas is the gold standard of treatment, however, pre-operative biopsy and MRI should be implemented whenever chordoma is among the differentials. Determining the presence of metastasis and assessing local invasions are needed to decide on an appropriate surgical resection (total or partial) and assess the need of chemical (i.e. imatinib mesylate) or radiological treatment.</div></div><div><h3>Conclusion</h3><div>Sacrococcygeal chordomas are rare tumors that are usually misdiagnosed and mismanaged. Imaging can be very helpful in aiding the diagnosis with known suggestive findings especially on MRI. Wide surgical excision is still the ultimate treatment while the use of carbon/photon/hardon radiotherapy and imatinib mesylate is promising.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100406"},"PeriodicalIF":0.0,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145685074","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}
Brucellosis is a zoonotic infection that can affect multiple organ systems, often presenting with non-specific symptoms such as fatigue, back pain, and low-grade fever. The musculoskeletal system is frequently involved, leading to conditions like arthritis, sacroiliitis, spondylitis, spondylodiscitis, and osteomyelitis. Among these, spondylodiscitis most commonly affects the lumbar vertebrae, followed by the thoracic vertebrae, with cervical involvement being rare. Brucellosis diagnosis is challenging due to slow, low-yield cultures and limitations of standard agglutination test (SAT) and Enzyme-linked immunosorbent assay (ELISA), which may show false negatives and cross-reactivity. Overlapping clinical and radiological features with tuberculosis often cause misdiagnosis, leading to delayed diagnosis.
Case description
We present a rare case of cervical brucellar spondylodiscitis with an epidural abscess, initially misdiagnosed as tuberculosis. A middle-aged patient presented with progressive quadriparesis, prompting clinical suspicion of tubercular spondylitis. The patient started on antitubercular therapy (ATT) but subsequently developed drug-induced hepatitis. Further investigation revealed Brucella was the causative agent. Treatment was adjusted accordingly, resulting in notable clinical recovery and radiological abscess resolution.
Conclusion
Brucellar spondylodiscitis should be considered in the differential diagnosis of infective spondylitis, especially in endemic regions. Misdiagnosis as tubercular spondylitis can result in unnecessary ATT exposure and its associated complications. Timely diagnosis with appropriate serological and microbiological investigations is crucial for initiating appropriate therapy and preventing adverse outcomes.
{"title":"Brucellosis or tuberculosis? A case of misdiagnosed cervical spondylodiscitis leading to ATT-induced hepatitis","authors":"Divya Tanwar , Naresh Kumar Midha , Suvinay Saxena , Monika Chaudhary , Deepak Kumar , Vibhor Tak","doi":"10.1016/j.hmedic.2025.100407","DOIUrl":"10.1016/j.hmedic.2025.100407","url":null,"abstract":"<div><h3>Background</h3><div>Brucellosis is a zoonotic infection that can affect multiple organ systems, often presenting with non-specific symptoms such as fatigue, back pain, and low-grade fever. The musculoskeletal system is frequently involved, leading to conditions like arthritis, sacroiliitis, spondylitis, spondylodiscitis, and osteomyelitis. Among these, spondylodiscitis most commonly affects the lumbar vertebrae, followed by the thoracic vertebrae, with cervical involvement being rare. Brucellosis diagnosis is challenging due to slow, low-yield cultures and limitations of standard agglutination test (SAT) and Enzyme-linked immunosorbent assay (ELISA), which may show false negatives and cross-reactivity. Overlapping clinical and radiological features with tuberculosis often cause misdiagnosis, leading to delayed diagnosis.</div></div><div><h3>Case description</h3><div>We present a rare case of cervical brucellar spondylodiscitis with an epidural abscess, initially misdiagnosed as tuberculosis. A middle-aged patient presented with progressive quadriparesis, prompting clinical suspicion of tubercular spondylitis. The patient started on antitubercular therapy (ATT) but subsequently developed drug-induced hepatitis. Further investigation revealed Brucella was the causative agent. Treatment was adjusted accordingly, resulting in notable clinical recovery and radiological abscess resolution.</div></div><div><h3>Conclusion</h3><div>Brucellar spondylodiscitis should be considered in the differential diagnosis of infective spondylitis, especially in endemic regions. Misdiagnosis as tubercular spondylitis can result in unnecessary ATT exposure and its associated complications. Timely diagnosis with appropriate serological and microbiological investigations is crucial for initiating appropriate therapy and preventing adverse outcomes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100407"},"PeriodicalIF":0.0,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145624947","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}
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