Grange syndrome (OMIM: 602531) is an ultra-rare disorder characterized by multiple steno-occlusive disease of the renal, abdominal, coronary, and cerebral arteries. Our report describes the first family with confirmed Grange syndrome from Saudi Arabia and expands the spectrum of its clinical and radiological phenotype. We present three siblings with Grange syndrome caused by a novel biallelic frameshift variant of YY1AP1, who demonstrate a variable phenotype. We report two asymptomatic cases, with a prospective observation, and recommend initiating clinical surveillance for asymptomatic individuals. Finally, we highlight the importance of genetic testing as part of stroke workup in children and young adults.
{"title":"The clinical spectrum of Grange syndrome: A case report of a novel variant and literature review","authors":"Abdulrahman Alsadiqi , Alaa Bamahmud , Lina Altaf , Iman Abumansour , Ibrahim Alsheikh , Zergham Zia , Majed Ashour , Ghouth Waggass , Hebah Qashqari","doi":"10.1016/j.hmedic.2026.100415","DOIUrl":"10.1016/j.hmedic.2026.100415","url":null,"abstract":"<div><div>Grange syndrome (OMIM: 602531) is an ultra-rare disorder characterized by multiple steno-occlusive disease of the renal, abdominal, coronary, and cerebral arteries. Our report describes the first family with confirmed Grange syndrome from Saudi Arabia and expands the spectrum of its clinical and radiological phenotype. We present three siblings with Grange syndrome caused by a novel biallelic frameshift variant of <em>YY1AP1</em>, who demonstrate a variable phenotype. We report two asymptomatic cases, with a prospective observation, and recommend initiating clinical surveillance for asymptomatic individuals. Finally, we highlight the importance of genetic testing as part of stroke workup in children and young adults.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"16 ","pages":"Article 100415"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145986722","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 : 2026-04-01Epub Date: 2026-02-03DOI: 10.1016/j.hmedic.2026.100420
Bahman Rasuli
Peyronie’s disease is a fibrotic disorder of the tunica albuginea characterized by plaque formation, penile curvature and erectile dysfunction. We report a 50-year-old man with a hard palpable nodule on the dorsal aspect of the penis. High-frequency transverse ultrasound demonstrated a curvilinear hyperechoic calcified tunical plaque with posterior acoustic shadowing, resembling the contour of an eyebrow. We propose the term “Eyebrow Sign” for this distinctive sonographic appearance of calcified Peyronie’s plaque, which appears to be underreported in the existing literature. Recognition of this sign may facilitate confident identification of chronic disease, improve reporting consistency and serve as an educational tool in penile imaging.
{"title":"The eyebrow sign: A distinctive sonographic appearance of calcified Peyronie's plaques","authors":"Bahman Rasuli","doi":"10.1016/j.hmedic.2026.100420","DOIUrl":"10.1016/j.hmedic.2026.100420","url":null,"abstract":"<div><div>Peyronie’s disease is a fibrotic disorder of the tunica albuginea characterized by plaque formation, penile curvature and erectile dysfunction. We report a 50-year-old man with a hard palpable nodule on the dorsal aspect of the penis. High-frequency transverse ultrasound demonstrated a curvilinear hyperechoic calcified tunical plaque with posterior acoustic shadowing, resembling the contour of an eyebrow. We propose the term “Eyebrow Sign” for this distinctive sonographic appearance of calcified Peyronie’s plaque, which appears to be underreported in the existing literature. Recognition of this sign may facilitate confident identification of chronic disease, improve reporting consistency and serve as an educational tool in penile imaging.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"16 ","pages":"Article 100420"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146174178","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}
Psychosis during opioid withdrawal is rare but clinically significant and may complicate detoxification and delay accurate diagnosis, particularly with synthetic opioids such as tramadol. We report the case of a 41-year-old married male with no prior personal or family psychiatric history who developed acute psychotic symptoms following abrupt cessation of tramadol. The patient had a 25-year history of alcohol dependence but had been in sustained remission for 3.5 years. After stopping tramadol, he initially developed classical opioid withdrawal symptoms, followed several days later by second-person auditory hallucinations and persecutory delusions. On admission, the Clinical Opioid Withdrawal Scale (COWS) score was 25/60, indicating moderate to severe withdrawal. He was managed with opioid agonist substitution, benzodiazepines, and short-term antipsychotic therapy, resulting in rapid resolution of both withdrawal and psychotic symptoms. The patient was discharged symptom-free on day 11 and remained asymptomatic without recurrence during four weeks of follow-up. This case highlights tramadol withdrawal–induced psychosis as an uncommon but important clinical entity and underscores the importance of careful substance use history, close monitoring during withdrawal, and appropriate short-term antipsychotic use to avoid misdiagnosis as primary psychosis or delirium.
{"title":"Psychotic symptoms following synthetic opioid withdrawal: A case report","authors":"Sanjeev Kumar Mishra , Bivek Mishra , Ramesh Sapkota , Nabin Sapkota , Tek Nath Yogi , Rijan Kafle , Diwakar Koirala","doi":"10.1016/j.hmedic.2026.100421","DOIUrl":"10.1016/j.hmedic.2026.100421","url":null,"abstract":"<div><div>Psychosis during opioid withdrawal is rare but clinically significant and may complicate detoxification and delay accurate diagnosis, particularly with synthetic opioids such as tramadol. We report the case of a 41-year-old married male with no prior personal or family psychiatric history who developed acute psychotic symptoms following abrupt cessation of tramadol. The patient had a 25-year history of alcohol dependence but had been in sustained remission for 3.5 years. After stopping tramadol, he initially developed classical opioid withdrawal symptoms, followed several days later by second-person auditory hallucinations and persecutory delusions. On admission, the Clinical Opioid Withdrawal Scale (COWS) score was 25/60, indicating moderate to severe withdrawal. He was managed with opioid agonist substitution, benzodiazepines, and short-term antipsychotic therapy, resulting in rapid resolution of both withdrawal and psychotic symptoms. The patient was discharged symptom-free on day 11 and remained asymptomatic without recurrence during four weeks of follow-up. This case highlights tramadol withdrawal–induced psychosis as an uncommon but important clinical entity and underscores the importance of careful substance use history, close monitoring during withdrawal, and appropriate short-term antipsychotic use to avoid misdiagnosis as primary psychosis or delirium.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"16 ","pages":"Article 100421"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146174179","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}
Dieulafoy’s lesion (DL) is a rare vascular abnormality characterized by an abnormally large submucosal artery that can cause life-threatening gastrointestinal bleeding. While the stomach is the most common site, duodenal involvement is uncommon and frequently overlooked.
Case presentation
We report two Ethiopian patients presenting with acute gastrointestinal bleeding due to duodenal Dieulafoy’s lesion. The first was a 42-year-old woman with hematemesis, melena, epigastric discomfort, and anemia, whose initial esophagogastroduodenoscopy (EGD) at another center was unremarkable. The second was a 42-year-old man with worsening melena, epigastric discomfort, fatigue, and anemia. In both patients, repeat EGD revealed actively bleeding vascular lesions in the duodenum. Hemostasis was successfully achieved using adrenaline injection and/or hemoclip application. Both patients received blood transfusions, proton pump inhibitors, and supportive care, and were discharged with normalized hemoglobin at two-week follow-up.
Conclusion
Dieulafoy lesions are rare but significant causes of massive gastrointestinal bleeding, which often pose diagnostic challenge due to their subtle endoscopic appearance. High clinical suspicion in cases of unexplained hematemesis or melena, along with prompt endoscopic intervention, can achieve effective hemostasis and prevent life-threatening complications.
{"title":"Duodenal Dieulafoy’s lesion: A rare cause of gastrointestinal hemorrhage in two Ethiopian patients – Case report","authors":"Kaleb Assefa Berhane , Telile Belissa Gobosho , Abdu Mohammed , Ahmed Adem , Abate Bane Shewaye , Biniyam Argaw Sileshi","doi":"10.1016/j.hmedic.2026.100416","DOIUrl":"10.1016/j.hmedic.2026.100416","url":null,"abstract":"<div><h3>Background</h3><div>Dieulafoy’s lesion (DL) is a rare vascular abnormality characterized by an abnormally large submucosal artery that can cause life-threatening gastrointestinal bleeding. While the stomach is the most common site, duodenal involvement is uncommon and frequently overlooked.</div></div><div><h3>Case presentation</h3><div>We report two Ethiopian patients presenting with acute gastrointestinal bleeding due to duodenal Dieulafoy’s lesion. The first was a 42-year-old woman with hematemesis, melena, epigastric discomfort, and anemia, whose initial esophagogastroduodenoscopy (EGD) at another center was unremarkable. The second was a 42-year-old man with worsening melena, epigastric discomfort, fatigue, and anemia. In both patients, repeat EGD revealed actively bleeding vascular lesions in the duodenum. Hemostasis was successfully achieved using adrenaline injection and/or hemoclip application. Both patients received blood transfusions, proton pump inhibitors, and supportive care, and were discharged with normalized hemoglobin at two-week follow-up.</div></div><div><h3>Conclusion</h3><div>Dieulafoy lesions are rare but significant causes of massive gastrointestinal bleeding, which often pose diagnostic challenge due to their subtle endoscopic appearance. High clinical suspicion in cases of unexplained hematemesis or melena, along with prompt endoscopic intervention, can achieve effective hemostasis and prevent life-threatening complications.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"16 ","pages":"Article 100416"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146080591","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 : 2026-04-01Epub Date: 2026-01-23DOI: 10.1016/j.hmedic.2026.100418
Muhammad Rehan, Qurra tul ain, Junaid Mehmood Malik, Tariq Iqbal, Muhammad Hassaan Tariq, Muhammad Shais Khan, Muhammad Ibrahim
Background
Deep burns of chest wall in childhood especially in females can lead to overwhelming long term complications including psychological distress due to possible loss of femininity. These complications may often demand complex surgical procedures. Treatment of childhood acute burns need special attention, preserving viable tissues, considering the complexities with growth in the future development of child.
Case presentation
In this case report, we present a female of 19 years who got burned at the age of 5 years and presented with bilateral absent breasts. After taking history, physical exam, pre-operative lab investigations and ultrasound bilateral mammary glands were retracted from anterior abdominal surface and realigned on chest wall. Patient was satisfied with cosmetic results.
Conclusion
Females with anterior chest wall burns before puberty can end up with breast development complications. Regular follow up of patients especially during puberty phase can prevent complicated breast deformities and also help reduce anxiety among growing females. There is no standard protocol to follow for reconstruction of post burn burned breast. Every patient demands specific surgical procedure according to peculiar situation.
{"title":"Aesthetic restoration of post burn apparent Amastia; A case report","authors":"Muhammad Rehan, Qurra tul ain, Junaid Mehmood Malik, Tariq Iqbal, Muhammad Hassaan Tariq, Muhammad Shais Khan, Muhammad Ibrahim","doi":"10.1016/j.hmedic.2026.100418","DOIUrl":"10.1016/j.hmedic.2026.100418","url":null,"abstract":"<div><h3>Background</h3><div>Deep burns of chest wall in childhood especially in females can lead to overwhelming long term complications including psychological distress due to possible loss of femininity. These complications may often demand complex surgical procedures. Treatment of childhood acute burns need special attention, preserving viable tissues, considering the complexities with growth in the future development of child.</div></div><div><h3>Case presentation</h3><div>In this case report, we present a female of 19 years who got burned at the age of 5 years and presented with bilateral absent breasts. After taking history, physical exam, pre-operative lab investigations and ultrasound bilateral mammary glands were retracted from anterior abdominal surface and realigned on chest wall. Patient was satisfied with cosmetic results.</div></div><div><h3>Conclusion</h3><div>Females with anterior chest wall burns before puberty can end up with breast development complications. Regular follow up of patients especially during puberty phase can prevent complicated breast deformities and also help reduce anxiety among growing females<strong>.</strong> There is no standard protocol to follow for reconstruction of post burn burned breast. Every patient demands specific surgical procedure according to peculiar situation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"16 ","pages":"Article 100418"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146080615","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 : 2026-04-01Epub Date: 2026-01-23DOI: 10.1016/j.hmedic.2026.100419
Ibrahim Npochinto Moumeni , Faustin Atemkeng Tsatedem
Background
Osgood-Schlatter disease, although generally benign, can evolve toward complex chronic forms in cases of diagnostic delay, particularly in African contexts where access to specialized care is limited. To our knowledge, radiating pain to both ankle and inguinal regions has not been previously documented in Osgood-Schlatter disease (PubMed, Embase, Google Scholar search 2000–2025). We report such a case and explore the role of "benevolent parental neglect" as a potential contributor to delayed diagnosis.
Case presentation
We report the case of a 14-year-old adolescent presenting with chronic bilateral Osgood-Schlatter disease evolving since childhood, complicated by atypical pain radiations toward the ankle and inguinal fold—a presentation not identified in our literature search. The 7-year diagnostic delay is attributed to "benevolent parental neglect," with parents initially interpreting complaints as "childhood whims.
Management
An integrative approach combining hospital-based osteopathy (80 %) with gentle pediatric techniques, formal medical prescription, and coordinated distance self-rehabilitation (20 %) was implemented. Reinforced parental involvement and follow-up were maintained over 3 months.
Results
Clinically meaningful improvements were observed in pain (VAS 7/10–3/10) and knee flexion (90° to 130°) after 3 months of integrative treatment. Parental compliance reached 95 %, enabling a return to normal activities.
Conclusion
This case suggests four exploratory concepts for further investigation: benevolent parental neglect, compensatory biomechanical cascade, integrated hospital osteopathy, and morpho-functional risk profile. These hypothesis-generating observations from a single case may offer a preliminary framework for understanding complex presentations in resource-limited settings. The integrated hospital osteopathy protocol warrants validation through controlled studies.
{"title":"Osgood-Schlatter disease with atypical pain radiations in an adolescent: Exploring the role of benevolent parental diagnostic neglect","authors":"Ibrahim Npochinto Moumeni , Faustin Atemkeng Tsatedem","doi":"10.1016/j.hmedic.2026.100419","DOIUrl":"10.1016/j.hmedic.2026.100419","url":null,"abstract":"<div><h3>Background</h3><div>Osgood-Schlatter disease, although generally benign, can evolve toward complex chronic forms in cases of diagnostic delay, particularly in African contexts where access to specialized care is limited. To our knowledge, radiating pain to both ankle and inguinal regions has not been previously documented in Osgood-Schlatter disease (PubMed, Embase, Google Scholar search 2000–2025). We report such a case and explore the role of \"benevolent parental neglect\" as a potential contributor to delayed diagnosis.</div></div><div><h3>Case presentation</h3><div>We report the case of a 14-year-old adolescent presenting with chronic bilateral Osgood-Schlatter disease evolving since childhood, complicated by atypical pain radiations toward the ankle and inguinal fold—a presentation not identified in our literature search. The 7-year diagnostic delay is attributed to \"benevolent parental neglect,\" with parents initially interpreting complaints as \"childhood whims.</div></div><div><h3>Management</h3><div>An integrative approach combining hospital-based osteopathy (80 %) with gentle pediatric techniques, formal medical prescription, and coordinated distance self-rehabilitation (20 %) was implemented. Reinforced parental involvement and follow-up were maintained over 3 months.</div></div><div><h3>Results</h3><div>Clinically meaningful improvements were observed in pain (VAS 7/10–3/10) and knee flexion (90° to 130°) after 3 months of integrative treatment. Parental compliance reached 95 %, enabling a return to normal activities.</div></div><div><h3>Conclusion</h3><div>This case suggests four exploratory concepts for further investigation: benevolent parental neglect, compensatory biomechanical cascade, integrated hospital osteopathy, and morpho-functional risk profile. These hypothesis-generating observations from a single case may offer a preliminary framework for understanding complex presentations in resource-limited settings. The integrated hospital osteopathy protocol warrants validation through controlled studies.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"16 ","pages":"Article 100419"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146080592","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 : 2026-02-01Epub Date: 2025-12-06DOI: 10.1016/j.hmedic.2025.100412
Michel Al Achkar, Chloe Lahoud, Rabindra Dhakal, Scott Vaughan
Targeted therapies, particularly anaplastic lymphoma kinase tyrosine kinase inhibitors (ALK-TKIs), have revolutionized the treatment of ALK-positive non-small cell lung cancer (NSCLC). Lung cancer represents the third most commonly diagnosed malignancy in the United States in 2024.ALK inhibitors, including the first-generation ALK tyrosine kinase inhibitor (ALK-TKI) crizotinib, the second-generation ALK-TKI alectinib, and the third-generation ALK-TKI lorlatinib, have demonstrated remarkable efficacy in treating ALK-positive non small-cell lung cancer. We present a case of a 46-year-old African American patient who developed grade 3 pneumonitis after initiating alectinib treatment. Following discontinuation of alectinib and treatment of the pneumonitis, the patient was successfully transitioned to lorlatinib, which was well-tolerated without recurrence of pneumonitis or other adverse events.
{"title":"Successful tolerance of a third-generation tyrosine kinase inhibitor after alectinib-induced lung injury: A case report","authors":"Michel Al Achkar, Chloe Lahoud, Rabindra Dhakal, Scott Vaughan","doi":"10.1016/j.hmedic.2025.100412","DOIUrl":"10.1016/j.hmedic.2025.100412","url":null,"abstract":"<div><div>Targeted therapies, particularly anaplastic lymphoma kinase tyrosine kinase inhibitors (ALK-TKIs), have revolutionized the treatment of ALK-positive non-small cell lung cancer (NSCLC). Lung cancer represents the third most commonly diagnosed malignancy in the United States in 2024.ALK inhibitors, including the first-generation ALK tyrosine kinase inhibitor (ALK-TKI) crizotinib, the second-generation ALK-TKI alectinib, and the third-generation ALK-TKI lorlatinib, have demonstrated remarkable efficacy in treating ALK-positive non small-cell lung cancer. We present a case of a 46-year-old African American patient who developed grade 3 pneumonitis after initiating alectinib treatment. Following discontinuation of alectinib and treatment of the pneumonitis, the patient was successfully transitioned to lorlatinib, which was well-tolerated without recurrence of pneumonitis or other adverse events.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100412"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738018","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 : 2026-02-01Epub Date: 2025-11-21DOI: 10.1016/j.hmedic.2025.100402
Carmen Pérez-Valencia , Antonio Bedmar Pérez , Francisco Javier Torre-Gomar , Andrés Ruiz-Sancho
Introduction
Infrarenal abdominal aortic mycotic aneurysm (MAA) is an uncommon and life-threatening condition caused by septic emboli that degrade the arterial wall. Standard treatment involves antibiotic therapy, aneurysm resection, and reconstruction of the affected area. However, in patients with significant comorbidities, surgery presents substantial risks, raising the question of whether conservative treatment might be a viable therapeutic option.
Case presentation
An 80-year-old male with a history of aorto-monoiliac prosthesis placement for an infrarenal abdominal aortic aneurysm presented with fever, malaise, and lower back pain. Initially diagnosed with pyelonephritis, imaging CT scan revealed a dilated aorta with suspicious infected collections but no active bleeding. PET-CT demonstrated hypermetabolism confirming an active infectious focus. The patient was diagnosed with Szilagyi Grade III MAA. Blood cultures revealed an infection by Streptococcus pyogenes, a microorganism that is extremely infrequently associated with mycotic aneurysms. Due to comorbidities, conservative management with suppressive antimicrobial therapy was chosen. After 12 months of follow-up, the patient remains asymptomatic with negative blood cultures and disappearance of perianeurysmal soft tissue mass on follow-up CTA.
Conclusion
MAA is a rare and fatal condition requiring early detection to prevent severe complications. Diagnosis relies on imaging studies. Standard treatment involves antibiotics and surgery, but in elderly patients with comorbidities, a conservative approach is a viable option. Treatment should be individualized and discussed by a multidisciplinary team.
{"title":"Streptococcus pyogenes presenting as infrarenal abdominal aortic mycotic aneurysm: Exploring the potential for conservative management","authors":"Carmen Pérez-Valencia , Antonio Bedmar Pérez , Francisco Javier Torre-Gomar , Andrés Ruiz-Sancho","doi":"10.1016/j.hmedic.2025.100402","DOIUrl":"10.1016/j.hmedic.2025.100402","url":null,"abstract":"<div><h3>Introduction</h3><div>Infrarenal abdominal aortic mycotic aneurysm (MAA) is an uncommon and life-threatening condition caused by septic emboli that degrade the arterial wall. Standard treatment involves antibiotic therapy, aneurysm resection, and reconstruction of the affected area. However, in patients with significant comorbidities, surgery presents substantial risks, raising the question of whether conservative treatment might be a viable therapeutic option.</div></div><div><h3>Case presentation</h3><div>An 80-year-old male with a history of aorto-monoiliac prosthesis placement for an infrarenal abdominal aortic aneurysm presented with fever, malaise, and lower back pain. Initially diagnosed with pyelonephritis, imaging CT scan revealed a dilated aorta with suspicious infected collections but no active bleeding. PET-CT demonstrated hypermetabolism confirming an active infectious focus. The patient was diagnosed with Szilagyi Grade III MAA. Blood cultures revealed an infection by Streptococcus pyogenes, a microorganism that is extremely infrequently associated with mycotic aneurysms. Due to comorbidities, conservative management with suppressive antimicrobial therapy was chosen. After 12 months of follow-up, the patient remains asymptomatic with negative blood cultures and disappearance of perianeurysmal soft tissue mass on follow-up CTA.</div></div><div><h3>Conclusion</h3><div>MAA is a rare and fatal condition requiring early detection to prevent severe complications. Diagnosis relies on imaging studies. Standard treatment involves antibiotics and surgery, but in elderly patients with comorbidities, a conservative approach is a viable option. Treatment should be individualized and discussed by a multidisciplinary team.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100402"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145624946","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 : 2026-02-01Epub 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":"2026-02-01","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}
Pub Date : 2026-02-01Epub 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":"2026-02-01","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}
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