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}
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.
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