Pub 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":"2026-01-23","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 : 2026-01-23DOI: 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":"2026-01-23","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}
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":"2026-01-22","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}
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":"2026-01-14","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 : 2025-12-21DOI: 10.1016/j.hmedic.2025.100414
Mayar M. Karaki , Shadi A. Abu Isneina , Masa A. Zghyer , Seema A. Ghaith , Dania N. Dawadi , Rawan H. Alhroub
WDR37-related disorders are rare multisystem conditions primarily involving the brain, eyes, and heart, with skeletal features such as limb or spine defects having been rarely reported. Here, we present a 4-month-old male infant of Arab ethnicity with a new heterozygous variant in WDR37 (c.8 C>G, p.Thr3Arg) exhibiting severe skeletal malformations, including left upper-limb amelia, right radial aplasia with wrist drop, a split foot, a rocker-bottom foot, cervical and thoracic hemivertebrae with kyphoscoliosis, and a syrinx. Brain imaging also showed ventriculomegaly and dysgenesis of the corpus callosum; he additionally had distinctive facial features and congenital heart defects. Whole-exome sequencing revealed additional variants of uncertain significance in ARF3 and ANKRD17, raising the possibility of an oligogenic effect. The infant's presentation significantly broadens the WDR37 phenotype to include dramatic limb and spinal malformations and highlights the gene as a potential cause of complex skeletal disorders, warranting deeper study of oligogenic roles.
{"title":"Severe limb malformations in a WDR37-related disorder: A report of a rare case","authors":"Mayar M. Karaki , Shadi A. Abu Isneina , Masa A. Zghyer , Seema A. Ghaith , Dania N. Dawadi , Rawan H. Alhroub","doi":"10.1016/j.hmedic.2025.100414","DOIUrl":"10.1016/j.hmedic.2025.100414","url":null,"abstract":"<div><div>WDR37-related disorders are rare multisystem conditions primarily involving the brain, eyes, and heart, with skeletal features such as limb or spine defects having been rarely reported. Here, we present a 4-month-old male infant of Arab ethnicity with a new heterozygous variant in <em>WDR37</em> (c.8 C>G, p.Thr3Arg) exhibiting severe skeletal malformations, including left upper-limb amelia, right radial aplasia with wrist drop, a split foot, a rocker-bottom foot, cervical and thoracic hemivertebrae with kyphoscoliosis, and a syrinx. Brain imaging also showed ventriculomegaly and dysgenesis of the corpus callosum; he additionally had distinctive facial features and congenital heart defects. Whole-exome sequencing revealed additional variants of uncertain significance in <em>ARF3</em> and <em>ANKRD17</em>, raising the possibility of an oligogenic effect. The infant's presentation significantly broadens the <em>WDR37</em> phenotype to include dramatic limb and spinal malformations and highlights the gene as a potential cause of complex skeletal disorders, warranting deeper study of oligogenic roles.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100414"},"PeriodicalIF":0.0,"publicationDate":"2025-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924682","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 : 2025-12-17DOI: 10.1016/j.hmedic.2025.100413
M. Lorenz , M. Pavlova , H.J. Mentzel , A. Moeser
Background
Cystic fibrosis (CF) already entails high treatment burden. Co-occurrence with connective-tissue aortopathy is exceptionally rare.
Case
We report a 23-year-old woman with CF due to CFTR c.1521_1523delCTT (p.Phe508del) apparent homozygosity. She underwent multiple orthopedic procedures from childhood. On transfer to our CF center, dysmorphic features (bifid uvula, hypertelorism) prompted genetic evaluation and a diagnosis of Loeys–Dietz syndrome (LDS) due to a heterozygous TGFBR2 [Exon 8,c.1678G > C, p.(Ala560pro), heterozygot] pathogenic variant. Imaging showed a 48 mm aortic root (≈ + 6 z). Valve-sparing aortic root repair (David procedure) was performed with good postoperative recovery under ongoing CFTR-modulator therapy (elexacaftor/tezacaftor/ivacaftor).
Lessons learned
In CF patients with disproportionate musculoskeletal or craniofacial findings, consider syndromic aortopathy and pursue genetics early. Timely LDS recognition enables elective aortic repair at smaller diameters and may prevent dissection.
Conclusion
This case underscores the value of cross-disciplinary screening for dual genetic diagnoses to optimize outcomes in complex phenotypes.
{"title":"Late diagnosis of Loeys-Dietz syndrome in a cystic fibrosis patient: A case report","authors":"M. Lorenz , M. Pavlova , H.J. Mentzel , A. Moeser","doi":"10.1016/j.hmedic.2025.100413","DOIUrl":"10.1016/j.hmedic.2025.100413","url":null,"abstract":"<div><h3>Background</h3><div>Cystic fibrosis (CF) already entails high treatment burden. Co-occurrence with connective-tissue aortopathy is exceptionally rare.</div></div><div><h3>Case</h3><div>We report a 23-year-old woman with CF due to <em>CFTR</em> c.1521_1523delCTT (p.Phe508del) apparent homozygosity. She underwent multiple orthopedic procedures from childhood. On transfer to our CF center, dysmorphic features (bifid uvula, hypertelorism) prompted genetic evaluation and a diagnosis of Loeys–Dietz syndrome (LDS) due to a heterozygous <em>TGFBR2</em> [Exon 8,c.1678G > C, p.(Ala560pro), heterozygot] pathogenic variant. Imaging showed a 48 mm aortic root (≈ + 6 z). Valve-sparing aortic root repair (David procedure) was performed with good postoperative recovery under ongoing CFTR-modulator therapy (elexacaftor/tezacaftor/ivacaftor).</div></div><div><h3>Lessons learned</h3><div>In CF patients with disproportionate musculoskeletal or craniofacial findings, consider syndromic aortopathy and pursue genetics early. Timely LDS recognition enables elective aortic repair at smaller diameters and may prevent dissection.</div></div><div><h3>Conclusion</h3><div>This case underscores the value of cross-disciplinary screening for dual genetic diagnoses to optimize outcomes in complex phenotypes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100413"},"PeriodicalIF":0.0,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924683","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 : 2025-12-17DOI: 10.1016/j.hmedic.2025.100411
Aaron Bertolo , Denis Ruzdija , Muhammad Fawad Ashraf , Haind Fadel , Ahmad Iftikhar
Thrombotic Microangiopathy (TMA) is a complex disorder encompassing various acquired and hereditary causes. In this case report, we delve into the atypical presentation of TMA in a 21-year-old patient, characterized by a distinctive lack of systemic findings (e.g., thrombocytopenia and microangiopathic hemolytic anemia) typically associated with the condition. An extensive investigation ruled out common etiologies, including ADAMTS13 deficiency (ruling out TTP), Shiga-toxin mediated HUS, and other secondary causes such as drug/immune-related factors, toxins, and systemic complement dysregulation (aHUS). A comprehensive genetic panel for complement mutations was negative. The patient's medical history did not align with prior COVID-19 infection, eliminating a potential causative link. The patient's lack of hypertension history raised a perplexing question: did renal disease precede hypertension or vice versa? Renal biopsy revealed characteristic features of TMA with mesangial deposits, hinting at a potential underlying genetic cause. However, common hereditary culprits, such as complement factor H mutations or Cobalamin C abnormalities, were ruled out through meticulous clinical, serological, and genetic evaluation.
{"title":"Unusual presentation of thrombotic microangiopathy in a young adult","authors":"Aaron Bertolo , Denis Ruzdija , Muhammad Fawad Ashraf , Haind Fadel , Ahmad Iftikhar","doi":"10.1016/j.hmedic.2025.100411","DOIUrl":"10.1016/j.hmedic.2025.100411","url":null,"abstract":"<div><div>Thrombotic Microangiopathy (TMA) is a complex disorder encompassing various acquired and hereditary causes. In this case report, we delve into the atypical presentation of TMA in a 21-year-old patient, characterized by a distinctive lack of systemic findings (e.g., thrombocytopenia and microangiopathic hemolytic anemia) typically associated with the condition. An extensive investigation ruled out common etiologies, including ADAMTS13 deficiency (ruling out TTP), Shiga-toxin mediated HUS, and other secondary causes such as drug/immune-related factors, toxins, and systemic complement dysregulation (aHUS). A comprehensive genetic panel for complement mutations was negative. The patient's medical history did not align with prior COVID-19 infection, eliminating a potential causative link. The patient's lack of hypertension history raised a perplexing question: did renal disease precede hypertension or vice versa? Renal biopsy revealed characteristic features of TMA with mesangial deposits, hinting at a potential underlying genetic cause. However, common hereditary culprits, such as complement factor H mutations or Cobalamin C abnormalities, were ruled out through meticulous clinical, serological, and genetic evaluation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100411"},"PeriodicalIF":0.0,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924681","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 : 2025-12-06DOI: 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":"2025-12-06","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}
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}