Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.038
N Loughry, T Mok, Rio C del, AW Fujita, A Steck, J Carpenter
<div><h3>Case Report</h3><div>Background: Excipient lung disease (ELD) results from the intravenous (IV) injection of crushed oral medications containing talc. Typical radiographic findings include diffuse, small (<1cm) nodules with middle/lower lobe predominance and emphysema. We report a case of pathologically confirmed ELD in a patient with prominent cavitary lung lesions and absence of significant emphysema, which are atypical features. We discuss diagnostic considerations in patients with these pulmonary imaging findings who have comorbid HIV disease and injection drug use.</div></div><div><h3>Case</h3><div>A 45-year-old male with a history of opioid use disorder (OUD) and IV drug use (IVDU) presented to the hospital after being found unconscious with opioid overdose. Workup revealed a new diagnosis of HIV (CD4 229 cells/mm^3) and multifocal pulmonary abnormalities on CT: a right upper lobe (RUL) cavitary lesion with scarring, a left lower lobe (LLL) cavitary lesion (2.2 × 1.7cm in size), and bilateral sub-centimeter nodules. An extensive infectious workup was unremarkable, including negative routine bacterial blood cultures, mycobacterial sputum and blood cultures, serum cryptococcal antigen, and urine histoplasma antigen. A transesophageal echocardiogram was negative for vegetation. A bronchoscopy with transbronchial biopsy revealed foreign body emboli consistent with ELD and granulomatous reaction on pathology. The patient was stabilized on buprenorphine-naloxone for OUD, started on anti-retroviral therapy for HIV, and discharged with infectious disease and addiction medicine follow-up.</div></div><div><h3>Discussion</h3><div>This case illustrates an atypical radiographic presentation of biopsy-proven ELD characterized by cavitary lung lesions and lack of significant emphysema. The etiology of cavitary lung lesions, in both the general population and in patients living with HIV, is primarily infectious, with malignancy, autoimmune disease, and pulmonary embolism among the most common non-infectious causes. In this case, a comprehensive infectious and malignancy workup was negative. While RUL cavitation with scarring could suggest prior infection, the patient had no known history of tuberculosis nor evidence of active disease. In this atypical presentation, the imaging lacked significant emphysema, and the nodules both varied in size (ranging from sub-centimeter to 2.2cm) and did not demonstrate a middle/lower lobe predominance.</div></div><div><h3>Conclusions</h3><div>This case highlights that ELD can manifest with atypical imaging findings, including cavitation without characteristic emphysema. This diagnosis should be considered in patients with relevant exposure history (IVDU), even with non-classic radiographic features. While patients with HIV infection often warrant broad diagnostic evaluation for cavitary lung disease due to risks of opportunistic infections, a careful history and evaluation of alternative etiologies is crucial
{"title":"Cavitary lesions: atypical excipient lung disease (talcosis) in a patient with HIV infection","authors":"N Loughry, T Mok, Rio C del, AW Fujita, A Steck, J Carpenter","doi":"10.1016/j.amjms.2025.12.038","DOIUrl":"10.1016/j.amjms.2025.12.038","url":null,"abstract":"<div><h3>Case Report</h3><div>Background: Excipient lung disease (ELD) results from the intravenous (IV) injection of crushed oral medications containing talc. Typical radiographic findings include diffuse, small (<1cm) nodules with middle/lower lobe predominance and emphysema. We report a case of pathologically confirmed ELD in a patient with prominent cavitary lung lesions and absence of significant emphysema, which are atypical features. We discuss diagnostic considerations in patients with these pulmonary imaging findings who have comorbid HIV disease and injection drug use.</div></div><div><h3>Case</h3><div>A 45-year-old male with a history of opioid use disorder (OUD) and IV drug use (IVDU) presented to the hospital after being found unconscious with opioid overdose. Workup revealed a new diagnosis of HIV (CD4 229 cells/mm^3) and multifocal pulmonary abnormalities on CT: a right upper lobe (RUL) cavitary lesion with scarring, a left lower lobe (LLL) cavitary lesion (2.2 × 1.7cm in size), and bilateral sub-centimeter nodules. An extensive infectious workup was unremarkable, including negative routine bacterial blood cultures, mycobacterial sputum and blood cultures, serum cryptococcal antigen, and urine histoplasma antigen. A transesophageal echocardiogram was negative for vegetation. A bronchoscopy with transbronchial biopsy revealed foreign body emboli consistent with ELD and granulomatous reaction on pathology. The patient was stabilized on buprenorphine-naloxone for OUD, started on anti-retroviral therapy for HIV, and discharged with infectious disease and addiction medicine follow-up.</div></div><div><h3>Discussion</h3><div>This case illustrates an atypical radiographic presentation of biopsy-proven ELD characterized by cavitary lung lesions and lack of significant emphysema. The etiology of cavitary lung lesions, in both the general population and in patients living with HIV, is primarily infectious, with malignancy, autoimmune disease, and pulmonary embolism among the most common non-infectious causes. In this case, a comprehensive infectious and malignancy workup was negative. While RUL cavitation with scarring could suggest prior infection, the patient had no known history of tuberculosis nor evidence of active disease. In this atypical presentation, the imaging lacked significant emphysema, and the nodules both varied in size (ranging from sub-centimeter to 2.2cm) and did not demonstrate a middle/lower lobe predominance.</div></div><div><h3>Conclusions</h3><div>This case highlights that ELD can manifest with atypical imaging findings, including cavitation without characteristic emphysema. This diagnosis should be considered in patients with relevant exposure history (IVDU), even with non-classic radiographic features. While patients with HIV infection often warrant broad diagnostic evaluation for cavitary lung disease due to risks of opportunistic infections, a careful history and evaluation of alternative etiologies is crucial ","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S20"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.068
L Aryal, A Kaulfers, S Goslings, D Mohammad
<div><h3>Case Report</h3><div>Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by renal tubular resistance to aldosterone, presenting with hyponatremia, hyperkalemia, and failure to thrive despite elevated aldosterone. The autosomal dominant (renal) form results from NR3C2 mutations affecting the mineralocorticoid receptor, while the systemic recessive form involves epithelial sodium channel gene defects. Nonspecific features often mimic congenital adrenal hyperplasia (CAH) or dehydration, delaying diagnosis. Advances in next-generation sequencing have expanded the genotypic spectrum and enabled earlier recognition. We describe a neonate with cleft palate, failure to thrive, and electrolyte abnormalities found to carry a novel NR3C2 exon 9 deletion.</div></div><div><h3>Case Description</h3><div>An 8-day-old term female presented with jaundice, poor feeding, lethargy, and failure to thrive. Birth weight was 3910 g (92nd percentile) with a loss to 3400 g (47th percentile). Exam revealed icterus and cleft palate. Although dehydration from poor intake was suspected, preserved urine output prompted further evaluation. Labs showed persistent hyponatremia (129–132 mmol/L), hyperkalemia (6.0–7.3 mmol/L), and mild hypercalcemia (10.7–11.2 mg/dL). The constellation raised concern for CAH, renal tubular acidosis, or mineralocorticoid resistance. Hormonal studies showed markedly elevated aldosterone (1732 ng/dL) and plasma renin activity (186.9 ng/mL/hr) with normal cortisol, excluding adrenal insufficiency. Renal ultrasound was unremarkable. Despite feeding support and fortified breast milk, electrolyte derangements persisted. Genetic testing identified a novel heterozygous exon 9 NR3C2 deletion, consistent with autosomal dominant PHA type 1, classified as a variant of uncertain significance, though concordant with the phenotype. Oral sodium chloride and a potassium-binding agent were initiated. On follow-up, sodium and potassium normalized and remained stable, allowing discontinuation of kayexalate while sodium supplementation continued. At 10 months, sodium was held to assess tolerance, and by 12 months follow-up, the child maintained normal electrolytes, appropriate weight gain, and steady growth, with continued multidisciplinary care involving nephrology, endocrinology, craniofacial surgery, and dietitian.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenge of distinguishing PHA1 from more common neonatal salt-wasting disorders such as renal tubulopathy or CAH. Identification of a novel NR3C2 exon 9 deletion expands the mutational spectrum of autosomal dominant PHA1 and raises the possibility of association with craniofacial anomalies. Early recognition through genetic testing was critical to guide therapy and avoid life-threatening complications. The systemic form of PHA1 is lifelong and severe, whereas the renal form, as in our patient, often improves with age. This case undersc
{"title":"A salty mystery: unmasking pseudohypoaldosteronism type 1 due to a novel NR3C2 exon 9 deletion in a neonate with cleft palate","authors":"L Aryal, A Kaulfers, S Goslings, D Mohammad","doi":"10.1016/j.amjms.2025.12.068","DOIUrl":"10.1016/j.amjms.2025.12.068","url":null,"abstract":"<div><h3>Case Report</h3><div>Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by renal tubular resistance to aldosterone, presenting with hyponatremia, hyperkalemia, and failure to thrive despite elevated aldosterone. The autosomal dominant (renal) form results from NR3C2 mutations affecting the mineralocorticoid receptor, while the systemic recessive form involves epithelial sodium channel gene defects. Nonspecific features often mimic congenital adrenal hyperplasia (CAH) or dehydration, delaying diagnosis. Advances in next-generation sequencing have expanded the genotypic spectrum and enabled earlier recognition. We describe a neonate with cleft palate, failure to thrive, and electrolyte abnormalities found to carry a novel NR3C2 exon 9 deletion.</div></div><div><h3>Case Description</h3><div>An 8-day-old term female presented with jaundice, poor feeding, lethargy, and failure to thrive. Birth weight was 3910 g (92nd percentile) with a loss to 3400 g (47th percentile). Exam revealed icterus and cleft palate. Although dehydration from poor intake was suspected, preserved urine output prompted further evaluation. Labs showed persistent hyponatremia (129–132 mmol/L), hyperkalemia (6.0–7.3 mmol/L), and mild hypercalcemia (10.7–11.2 mg/dL). The constellation raised concern for CAH, renal tubular acidosis, or mineralocorticoid resistance. Hormonal studies showed markedly elevated aldosterone (1732 ng/dL) and plasma renin activity (186.9 ng/mL/hr) with normal cortisol, excluding adrenal insufficiency. Renal ultrasound was unremarkable. Despite feeding support and fortified breast milk, electrolyte derangements persisted. Genetic testing identified a novel heterozygous exon 9 NR3C2 deletion, consistent with autosomal dominant PHA type 1, classified as a variant of uncertain significance, though concordant with the phenotype. Oral sodium chloride and a potassium-binding agent were initiated. On follow-up, sodium and potassium normalized and remained stable, allowing discontinuation of kayexalate while sodium supplementation continued. At 10 months, sodium was held to assess tolerance, and by 12 months follow-up, the child maintained normal electrolytes, appropriate weight gain, and steady growth, with continued multidisciplinary care involving nephrology, endocrinology, craniofacial surgery, and dietitian.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenge of distinguishing PHA1 from more common neonatal salt-wasting disorders such as renal tubulopathy or CAH. Identification of a novel NR3C2 exon 9 deletion expands the mutational spectrum of autosomal dominant PHA1 and raises the possibility of association with craniofacial anomalies. Early recognition through genetic testing was critical to guide therapy and avoid life-threatening complications. The systemic form of PHA1 is lifelong and severe, whereas the renal form, as in our patient, often improves with age. This case undersc","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S40"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.008
CH Hood, D Smith, G Hernandez
Purpose
The Pulmonary Embolism Response Team (PERT) is a multidisciplinary group that provides rapid care for patients with intermediate and high-risk pulmonary embolism (PE) using treatment modalities such as anticoagulation (AC), mechanical thrombectomy (MT), and catheter-directed thrombolysis (CDT). Comparative outcomes across these modalities remain poorly understood.
Methods
We performed a retrospective analysis of 159 patients who underwent a PERT activation between 2021 and 2024 at a large tertiary hospital. Sociodemographic and clinical data including age, sex, length of stay (LOS), ICU LOS, hospital cost, PESI score, 30-day mortality, 30-day readmission, and bleeding complications were extracted from the electronic health record via chart review. Patients not admitted primarily for PE were excluded from the study: 65 AC, 10 MT, and 3 CDT were excluded. Mean differences between therapies were evaluated using ANOVA single factor, Fisher's exact test, and Chi square test.
Results
The mean age of the population was 57 ± 13 years, 52% (n=42) were male, and all were diagnosed with intermediate or high-risk PE. Most of the excluded patients were in the AC group. Patients who received AC alone had a significantly longer ICU LOS compared with MT or CDT (Table). The mean hospital LOS was also longer in the AC group, although the difference was not statistically significant. No significant differences were found in age, sex, hospital cost, or PESI score among the groups. Although not statistically significant, the AC group had higher 30-day mortality, 30-day readmission, and bleeding complication rates compared with MT (Table).
Conclusions
At a large tertiary medical center in Mississippi, patients who received anticoagulation alone for intermediate or high-risk PE had longer ICU stays compared with those treated with MT or CDT interventions, even after adjusting for primary admitting diagnosis. However, no significant differences were observed in mortality, readmission, or bleeding complication rates. Further studies are needed to identify factors influencing the choice of AC alone versus MT or CDT in the treatment of intermediate to high-risk PE.
{"title":"Impact of treatment modality on outcomes in pulmonary embolism response team activations","authors":"CH Hood, D Smith, G Hernandez","doi":"10.1016/j.amjms.2025.12.008","DOIUrl":"10.1016/j.amjms.2025.12.008","url":null,"abstract":"<div><h3>Purpose</h3><div>The Pulmonary Embolism Response Team (PERT) is a multidisciplinary group that provides rapid care for patients with intermediate and high-risk pulmonary embolism (PE) using treatment modalities such as anticoagulation (AC), mechanical thrombectomy (MT), and catheter-directed thrombolysis (CDT). Comparative outcomes across these modalities remain poorly understood.</div></div><div><h3>Methods</h3><div>We performed a retrospective analysis of 159 patients who underwent a PERT activation between 2021 and 2024 at a large tertiary hospital. Sociodemographic and clinical data including age, sex, length of stay (LOS), ICU LOS, hospital cost, PESI score, 30-day mortality, 30-day readmission, and bleeding complications were extracted from the electronic health record via chart review. Patients not admitted primarily for PE were excluded from the study: 65 AC, 10 MT, and 3 CDT were excluded. Mean differences between therapies were evaluated using ANOVA single factor, Fisher's exact test, and Chi square test.</div></div><div><h3>Results</h3><div>The mean age of the population was 57 ± 13 years, 52% (n=42) were male, and all were diagnosed with intermediate or high-risk PE. Most of the excluded patients were in the AC group. Patients who received AC alone had a significantly longer ICU LOS compared with MT or CDT (Table). The mean hospital LOS was also longer in the AC group, although the difference was not statistically significant. No significant differences were found in age, sex, hospital cost, or PESI score among the groups. Although not statistically significant, the AC group had higher 30-day mortality, 30-day readmission, and bleeding complication rates compared with MT (Table).</div></div><div><h3>Conclusions</h3><div>At a large tertiary medical center in Mississippi, patients who received anticoagulation alone for intermediate or high-risk PE had longer ICU stays compared with those treated with MT or CDT interventions, even after adjusting for primary admitting diagnosis. However, no significant differences were observed in mortality, readmission, or bleeding complication rates. Further studies are needed to identify factors influencing the choice of AC alone versus MT or CDT in the treatment of intermediate to high-risk PE.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S2"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.035
R Beede, S Bag, RD Smalligan
<div><h3>Case Report</h3><div>A 69yo woman with DM, HTN, osteoarthritis, and what she reported as a Factor V problem, underwent right total knee arthroplasty without complications and was discharged on apixaban. She had no bleeding initially but had a progressive drop in hemoglobin, eventually requiring admission for new-onset hematochezia and symptomatic anemia. Labs showed an INR of 3.4 and despite stopping her anticoagulant, giving vitamin K, FFP, and several units of PRBCs, bleeding continued and her INR remained elevated. On transfer to our tertiary medical center she was hemodynamically stable, Hgb 8.8 g/dL, HCT 26%, PLT 238,000/µL, MCV 86, PT 23 sec, and INR 2.0, and aPTT 44 sec. Exam showed pallor and delayed capillary refill but no bruising or hemarthrosis. The knee incision was clean and well-healed. Coagulation factor assays showed a Factor V activity of 1 U/dL (reference 70–165) and borderline Factor VII level of 58 U/dL (reference 65–180). On further investigation, it appeared her condition was initially interpreted as Factor V Leiden when she reported a family history of a bleeding problem related to Factor V. On this admission she received 6 units of PRBCs and 8 units FFP and was able to discharge home.</div></div><div><h3>Discussion</h3><div>Inherited factor V deficiency (Owren disease) is an exceptionally rare autosomal recessive bleeding disorder with an estimated prevalence of 1 in 1 million that stands in stark contrast to the more common Factor V Leiden condition that leads to a hypercoagulable state. The Factor V deficiency condition is characterized by prolonged PT and aPTT with normal fibrinogen and platelet counts, confirmed by factor assays showing markedly reduced Factor V activity as seen in our case. Bleeding severity correlates with Factor V levels, with values below 10 U/dL associated with significant postoperative or mucosal bleeding. Unlike the acquired form, which is mediated by inhibitory antibodies, inherited Factor V deficiency results from mutations in the <em>F5</em> gene, often revealed by family history. In this case, on further questioning the patient reported that her mother and one of two sisters also carry a Factor V mutation. Her postoperative bleeding was likely worsened by postoperative, protocol driven, anticoagulation with apixaban.</div><div>Management choices for Factor V deficiency remain limited because no specific Factor V concentrate exists; hence treatment relies on transfusion with FFP, with platelet transfusions considered in severe cases. It is interesting that no bleeding occurred immediately postoperatively in our patient and the surgical site was never affected. Regardless, revisiting the history, consulting hematology and in-depth studies were able to clarify the clinical situation and guide treatment. This case provides an opportunity for all clinicians to refresh their memory about inherited Factor V deficiency and it highlights the importance of careful history taking of reported
{"title":"An overlooked bloody risk: when Factor V is not Leiden","authors":"R Beede, S Bag, RD Smalligan","doi":"10.1016/j.amjms.2025.12.035","DOIUrl":"10.1016/j.amjms.2025.12.035","url":null,"abstract":"<div><h3>Case Report</h3><div>A 69yo woman with DM, HTN, osteoarthritis, and what she reported as a Factor V problem, underwent right total knee arthroplasty without complications and was discharged on apixaban. She had no bleeding initially but had a progressive drop in hemoglobin, eventually requiring admission for new-onset hematochezia and symptomatic anemia. Labs showed an INR of 3.4 and despite stopping her anticoagulant, giving vitamin K, FFP, and several units of PRBCs, bleeding continued and her INR remained elevated. On transfer to our tertiary medical center she was hemodynamically stable, Hgb 8.8 g/dL, HCT 26%, PLT 238,000/µL, MCV 86, PT 23 sec, and INR 2.0, and aPTT 44 sec. Exam showed pallor and delayed capillary refill but no bruising or hemarthrosis. The knee incision was clean and well-healed. Coagulation factor assays showed a Factor V activity of 1 U/dL (reference 70–165) and borderline Factor VII level of 58 U/dL (reference 65–180). On further investigation, it appeared her condition was initially interpreted as Factor V Leiden when she reported a family history of a bleeding problem related to Factor V. On this admission she received 6 units of PRBCs and 8 units FFP and was able to discharge home.</div></div><div><h3>Discussion</h3><div>Inherited factor V deficiency (Owren disease) is an exceptionally rare autosomal recessive bleeding disorder with an estimated prevalence of 1 in 1 million that stands in stark contrast to the more common Factor V Leiden condition that leads to a hypercoagulable state. The Factor V deficiency condition is characterized by prolonged PT and aPTT with normal fibrinogen and platelet counts, confirmed by factor assays showing markedly reduced Factor V activity as seen in our case. Bleeding severity correlates with Factor V levels, with values below 10 U/dL associated with significant postoperative or mucosal bleeding. Unlike the acquired form, which is mediated by inhibitory antibodies, inherited Factor V deficiency results from mutations in the <em>F5</em> gene, often revealed by family history. In this case, on further questioning the patient reported that her mother and one of two sisters also carry a Factor V mutation. Her postoperative bleeding was likely worsened by postoperative, protocol driven, anticoagulation with apixaban.</div><div>Management choices for Factor V deficiency remain limited because no specific Factor V concentrate exists; hence treatment relies on transfusion with FFP, with platelet transfusions considered in severe cases. It is interesting that no bleeding occurred immediately postoperatively in our patient and the surgical site was never affected. Regardless, revisiting the history, consulting hematology and in-depth studies were able to clarify the clinical situation and guide treatment. This case provides an opportunity for all clinicians to refresh their memory about inherited Factor V deficiency and it highlights the importance of careful history taking of reported ","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S18-S19"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.014
A Jagadish , V Kondapaneni , GN Garrison , J Merrill
<div><h3>Case Report</h3><div>Introduction: Ventricular pacing from the right ventricular apex and septum is commonly used when implanting pacemakers. However, ventricular pacing percentage in excess of 20-40% has been associated with the development of pacing–induced cardiomyopathy (PIC). His Bundle pacing (HBP) provides a more physiologic ventricular activation and reduces the risk of PIC. We describe a case of syncope occurring 5 years after placement of a dual chamber pacemaker utilizing HBP, with the diagnosis obscured by a normal standard device interrogation.</div></div><div><h3>Case Presentation</h3><div>A 78 year-old male underwent dual chamber pacemaker implantation using non-selective HBP (capture of both the His Bundle and surrounding ventricular septal tissue) five years previously for syncope and high-grade atrioventricular (AV) block (Figure 1). His syncope resolved and routine device evaluations thereafter consistently showed normal pacemaker function. Five years later he experienced syncope and pacemaker interrogation reported normal function with normal pacing thresholds. Shortly afterwards he experienced recurrent syncope and device interrogation again reporting normal function. Electrocardiogram (ECG) revealed AV sequential pacing with underlying right bundle branch block and left posterior fascicular block (Figure 2). He was admitted and had pacemaker interrogation performed by electrophysiology. This demonstrated loss of capture of the adjacent septal tissue but normal HBP thresholds. Ventricular pacing was then tested at 120 ppm and resulted in development of symptomatic AV block. He then underwent pacemaker lead revision using left bundle pacing (LBP) with resolution of his syncope (Figure 3).</div></div><div><h3>Discussion</h3><div>HBP has the advantage of utilizing the native conduction system and results in significantly reduced risk of PIC. However, reports of rising pacing thresholds and progressive infrahisian conduction disease distal to the pacing site have raised concerns regarding the long-term safety and utility of this technique. Our patient had repeated normal pacemaker evaluations after his syncopal events, but this was misleading as interrogation failed to discern that ventricular septal capture had been lost and that ventricular activation relied only on His bundle capture and native conduction distal to the His bundle pacing site. Activation of the adjacent septal tissue served as an additional mechanism for ventricular activation separate from His bundle pacing in this patient, and loss of septal capture resulted in reliance on His bundle pacing and conduction distal to that for ventricular activation. This case report highlights the need for significant caution when interpreting a normal pacemaker evaluation in patients with His bundle pacing or experiencing near–syncope or syncope. Current data suggests that LBP provides similar physiologic benefits as HBP but without the significant limitations seen wi
{"title":"Syncope in a patient with His-bundle pacing","authors":"A Jagadish , V Kondapaneni , GN Garrison , J Merrill","doi":"10.1016/j.amjms.2025.12.014","DOIUrl":"10.1016/j.amjms.2025.12.014","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Ventricular pacing from the right ventricular apex and septum is commonly used when implanting pacemakers. However, ventricular pacing percentage in excess of 20-40% has been associated with the development of pacing–induced cardiomyopathy (PIC). His Bundle pacing (HBP) provides a more physiologic ventricular activation and reduces the risk of PIC. We describe a case of syncope occurring 5 years after placement of a dual chamber pacemaker utilizing HBP, with the diagnosis obscured by a normal standard device interrogation.</div></div><div><h3>Case Presentation</h3><div>A 78 year-old male underwent dual chamber pacemaker implantation using non-selective HBP (capture of both the His Bundle and surrounding ventricular septal tissue) five years previously for syncope and high-grade atrioventricular (AV) block (Figure 1). His syncope resolved and routine device evaluations thereafter consistently showed normal pacemaker function. Five years later he experienced syncope and pacemaker interrogation reported normal function with normal pacing thresholds. Shortly afterwards he experienced recurrent syncope and device interrogation again reporting normal function. Electrocardiogram (ECG) revealed AV sequential pacing with underlying right bundle branch block and left posterior fascicular block (Figure 2). He was admitted and had pacemaker interrogation performed by electrophysiology. This demonstrated loss of capture of the adjacent septal tissue but normal HBP thresholds. Ventricular pacing was then tested at 120 ppm and resulted in development of symptomatic AV block. He then underwent pacemaker lead revision using left bundle pacing (LBP) with resolution of his syncope (Figure 3).</div></div><div><h3>Discussion</h3><div>HBP has the advantage of utilizing the native conduction system and results in significantly reduced risk of PIC. However, reports of rising pacing thresholds and progressive infrahisian conduction disease distal to the pacing site have raised concerns regarding the long-term safety and utility of this technique. Our patient had repeated normal pacemaker evaluations after his syncopal events, but this was misleading as interrogation failed to discern that ventricular septal capture had been lost and that ventricular activation relied only on His bundle capture and native conduction distal to the His bundle pacing site. Activation of the adjacent septal tissue served as an additional mechanism for ventricular activation separate from His bundle pacing in this patient, and loss of septal capture resulted in reliance on His bundle pacing and conduction distal to that for ventricular activation. This case report highlights the need for significant caution when interpreting a normal pacemaker evaluation in patients with His bundle pacing or experiencing near–syncope or syncope. Current data suggests that LBP provides similar physiologic benefits as HBP but without the significant limitations seen wi","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S5-S6"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.095
J Hull , K Morgan , E Davis , N Alexander
Case Report
Infective endocarditis (IE) in the pediatric population is a rare condition typically associated with intravenous drug use, congenital heart disease, or indwelling catheters. Without such risk factors, tricuspid IE in a structurally normal heart is a true anomaly. Though rare, community-acquired Staphylococcus aureus tricuspid IE can present in children without risk factors, presenting unique diagnostic and management challenges.
A 14-year-old male with eczema presented to the emergency room with a 5-day history of muscle aches, fatigue, and watery diarrhea. On arrival, he was hypotensive, tachycardic, and tachypneic. His exam was notable for ill appearance, dryness, abdominal tenderness, and diffuse scabbing lesions to the arms, legs, and abdomen. Broad spectrum antibiotics were started, and intravenous fluid boluses were given. Despite interventions, he remained tachypneic and toxic-appearing. After blood cultures resulted in MSSA, antibiotics were narrowed. A transthoracic echocardiogram revealed a 1.2 × 1 cm mobile echogenic mass on the tricuspid valve, suggestive of vegetation; all other heart structures were normal. Due to persistent tachypnea and sleep-associated hypoxia, CT chest was obtained and revealed multiple bilateral pulmonary nodules, suggestive of septic emboli. Further dissemination studies did not find evidence of infection. His hospitalization was complicated by new-onset hypertension (HTN), requiring max dose lisinopril, amlodipine, spironolactone, and chlorthalidone. Secondary hypertension workup was negative. After 6 weeks of antibiotics, there was resolution of the vegetation size.
This case illustrates a rare presentation of isolated tricuspid valve IE in an adolescent with no history of intravenous drug use, congenital heart disease, or prior cardiac surgery. In pediatrics, right-sided IE is uncommon outside of children with ventricular septal defects or indwelling catheters. After detailed history collection and thorough examination by a multidisciplinary team, it was deemed that his community-acquired MSSA bacteremia likely originated from an open eczema wound. This case highlights the need for outpatient guidance on eczema management and parental education. Without proper treatment to avoid open wounds, significant adverse outcomes can occur. Additionally, our case highlights a unique secondary complication of MSSA bacteriemia - HTN. We propose aggressive treatment of this complication to avoid prolonged hospitalization and further complications. Lastly, this case adds to the limited pediatric literature by demonstrating that isolated tricuspid IE can occur in otherwise healthy adolescents with potentially life-threatening complications. Clinicians should maintain a high index of suspicion for endocarditis in children with persistent S. aureus bacteremia and respiratory findings as early detection is critical to reduce morbidity.
{"title":"An interesting case of pediatric infective endocarditis without common risk factors","authors":"J Hull , K Morgan , E Davis , N Alexander","doi":"10.1016/j.amjms.2025.12.095","DOIUrl":"10.1016/j.amjms.2025.12.095","url":null,"abstract":"<div><h3>Case Report</h3><div>Infective endocarditis (IE) in the pediatric population is a rare condition typically associated with intravenous drug use, congenital heart disease, or indwelling catheters. Without such risk factors, tricuspid IE in a structurally normal heart is a true anomaly. Though rare, community-acquired Staphylococcus aureus tricuspid IE can present in children without risk factors, presenting unique diagnostic and management challenges.</div><div>A 14-year-old male with eczema presented to the emergency room with a 5-day history of muscle aches, fatigue, and watery diarrhea. On arrival, he was hypotensive, tachycardic, and tachypneic. His exam was notable for ill appearance, dryness, abdominal tenderness, and diffuse scabbing lesions to the arms, legs, and abdomen. Broad spectrum antibiotics were started, and intravenous fluid boluses were given. Despite interventions, he remained tachypneic and toxic-appearing. After blood cultures resulted in MSSA, antibiotics were narrowed. A transthoracic echocardiogram revealed a 1.2 × 1 cm mobile echogenic mass on the tricuspid valve, suggestive of vegetation; all other heart structures were normal. Due to persistent tachypnea and sleep-associated hypoxia, CT chest was obtained and revealed multiple bilateral pulmonary nodules, suggestive of septic emboli. Further dissemination studies did not find evidence of infection. His hospitalization was complicated by new-onset hypertension (HTN), requiring max dose lisinopril, amlodipine, spironolactone, and chlorthalidone. Secondary hypertension workup was negative. After 6 weeks of antibiotics, there was resolution of the vegetation size.</div><div>This case illustrates a rare presentation of isolated tricuspid valve IE in an adolescent with no history of intravenous drug use, congenital heart disease, or prior cardiac surgery. In pediatrics, right-sided IE is uncommon outside of children with ventricular septal defects or indwelling catheters. After detailed history collection and thorough examination by a multidisciplinary team, it was deemed that his community-acquired MSSA bacteremia likely originated from an open eczema wound. This case highlights the need for outpatient guidance on eczema management and parental education. Without proper treatment to avoid open wounds, significant adverse outcomes can occur. Additionally, our case highlights a unique secondary complication of MSSA bacteriemia - HTN. We propose aggressive treatment of this complication to avoid prolonged hospitalization and further complications. Lastly, this case adds to the limited pediatric literature by demonstrating that isolated tricuspid IE can occur in otherwise healthy adolescents with potentially life-threatening complications. Clinicians should maintain a high index of suspicion for endocarditis in children with persistent S. aureus bacteremia and respiratory findings as early detection is critical to reduce morbidity.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S57-S58"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.031
H Tariq , M Almas , J Shaikh , C Davi , H Najjari , T Naguib
Case Report
Introduction: Angioedema (AE) is a clinical condition characterized by sudden, localized swelling of the subcutaneous and/or submucosal tissues due to increased vascular permeability triggered by vasoactive mediators. Although frequently associated with urticaria, angioedema is considered a distinct pathological entity with unique underlying mechanisms. There are no laboratory parameters established for diagnosing and differentiating the two idiopathic acquired forms, Idiopathic histaminergic acquired angioedema (IH-AAE) and Idiopathic non-histaminergic acquired angioedema (InH-AAE). Therapy of InH-AAE is often challenging with efficacy of different options still being studied. We present a case of InH-AAE successfully treated with Icatibant.
Case presentation
This is a case of a 56-year-old male who came in due to swelling of his tongue and lips which started in the morning of the day of admission. According to him he had a flea bite on his genital area which got swollen a few days ago, over the next few days it resolved spontaneously. However, this morning he noted swelling of his lips and tongue and attributed it to another flea bite. He denied having any rash, fever, chest pain, abdominal pain, nausea/vomiting or shortness of breath and lightheadedness. He denied being allergic to any food or medications. He previously has 2 prior admissions due to similar complaints. Past medical history was significant for hypertension (noncompliant with medication), hepatitis C (never treated), and substance use disorder (amphetamine and cannabis). Physical examination was generally unremarkable except for isolated swelling of lips and tongue. No stridor or wheezing was heard. Initial labs showed elevated T. bili of 1.02, ALP of 208, AST 109, and ALT 85, and C1 inhibitor function at 105% (normal). According to ED report, he was given IM epinephrine, dexamethasone, hydralazine and tranexamic acid, without much effect. He was started on Icatibant in the ICU. Swelling decreased over time throughout the day and passed swallow evaluation. He was able to tolerate oral feeding by the evening. The morning after swelling had significantly reduced and was medically stable for discharge.
Conclusion
Wide variety of therapeutic options for Idiopathic non-histaminergic acquired angioedema (InH-AAE), such as high dosages of antihistamines (AH), Icatibant, ecallantide, C1-INH concentrates, glucocorticosteroids (GCS), omalizumab, and other agents have been studied. This case highlights the potential key role of bradykinin β2 receptor antagonist in cases where other options are not effective.
{"title":"Role of Bradykinin β2 receptor antagonist in treating idiopathic non-histaminergic angioedema","authors":"H Tariq , M Almas , J Shaikh , C Davi , H Najjari , T Naguib","doi":"10.1016/j.amjms.2025.12.031","DOIUrl":"10.1016/j.amjms.2025.12.031","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Angioedema (AE) is a clinical condition characterized by sudden, localized swelling of the subcutaneous and/or submucosal tissues due to increased vascular permeability triggered by vasoactive mediators. Although frequently associated with urticaria, angioedema is considered a distinct pathological entity with unique underlying mechanisms. There are no laboratory parameters established for diagnosing and differentiating the two idiopathic acquired forms, Idiopathic histaminergic acquired angioedema (IH-AAE) and Idiopathic non-histaminergic acquired angioedema (InH-AAE). Therapy of InH-AAE is often challenging with efficacy of different options still being studied. We present a case of InH-AAE successfully treated with Icatibant.</div></div><div><h3>Case presentation</h3><div>This is a case of a 56-year-old male who came in due to swelling of his tongue and lips which started in the morning of the day of admission. According to him he had a flea bite on his genital area which got swollen a few days ago, over the next few days it resolved spontaneously. However, this morning he noted swelling of his lips and tongue and attributed it to another flea bite. He denied having any rash, fever, chest pain, abdominal pain, nausea/vomiting or shortness of breath and lightheadedness. He denied being allergic to any food or medications. He previously has 2 prior admissions due to similar complaints. Past medical history was significant for hypertension (noncompliant with medication), hepatitis C (never treated), and substance use disorder (amphetamine and cannabis). Physical examination was generally unremarkable except for isolated swelling of lips and tongue. No stridor or wheezing was heard. Initial labs showed elevated T. bili of 1.02, ALP of 208, AST 109, and ALT 85, and C1 inhibitor function at 105% (normal). According to ED report, he was given IM epinephrine, dexamethasone, hydralazine and tranexamic acid, without much effect. He was started on Icatibant in the ICU. Swelling decreased over time throughout the day and passed swallow evaluation. He was able to tolerate oral feeding by the evening. The morning after swelling had significantly reduced and was medically stable for discharge.</div></div><div><h3>Conclusion</h3><div>Wide variety of therapeutic options for Idiopathic non-histaminergic acquired angioedema (InH-AAE), such as high dosages of antihistamines (AH), Icatibant, ecallantide, C1-INH concentrates, glucocorticosteroids (GCS), omalizumab, and other agents have been studied. This case highlights the potential key role of bradykinin β2 receptor antagonist in cases where other options are not effective.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S17"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.026
MI Alvarez Cardona, J Roque-Torres, V Rodríguez González, J Colon
Case Report
Introduction: Opportunistic infections and malignancies are key considerations in immunosuppressed patients, particularly those with systemic autoimmune conditions requiring chronic immunosuppressive therapy. Central nervous system (CNS) lesions in this setting often present a diagnostic challenge, as their clinical and radiographic features may overlap significantly between infectious and malignant etiologies. We present the case of a middle-aged woman with systemic lupus erythematosus (SLE) on multiple immunosuppressive agents who was initially treated for cerebral toxoplasmosis but was ultimately diagnosed with primary CNS lymphoma.
Case Presentation
A 49-year-old female with SLE on hydroxychloroquine, prednisone, and mycophenolate mofetil presented with a two-day history of dizziness and severe bilateral frontal, temporal and occipital headache. Physical examination revealed no focal neurological deficits but was remarkable for diffuse hyperreflexia and positive bilateral Hoffman and Babinski tests. Brain MRI showed multiple rim-enhancing lesions with vasogenic edema and mild left-to-right midline shift. On further history, she reported owning nine cats and exposure to their feces. Both IgG and IgM antibodies for toxoplasmosis were significantly positive, therefore she was started on Trimethoprim/sulfamethoxazole (TMP/SMX) along with dexamethasone for anti-edema measures. Due to side effects, she was transitioned to atovaquone, clindamycin, and azithromycin, and later to pyrimethamine and sulfadiazine due to lack of improvement on CT imaging. However, a follow-up MR spectroscopy showed a significant improvement in the size of the lesions therefore this regimen was continued. Repeat imaging after completion of therapy showed decrease or resolution of most of the previously noted lesions, however there was an increase in the size of one main lesion. A left craniotomy with open biopsy was positive for diffuse large B-cell lymphoma. She was subsequently started on oncologic treatment with good response.
Discussion
This case illustrates the diagnostic complexity of CNS lesions in immunocompromised patients, where overlapping presentations of infectious and neoplastic processes may delay definitive diagnosis. The initial serologic and clinical picture strongly supported cerebral toxoplasmosis, yet persistent lesion growth prompted further evaluation and tissue biopsy, ultimately revealing primary CNS lymphoma. This highlights the importance of maintaining a broad differential diagnosis, close radiographic follow-up, and early consideration of biopsy when clinical or radiographic response is incongruent with initial diagnosis. Timely recognition and treatment of CNS lymphoma is critical, as outcomes improve with prompt treatment.
{"title":"Neurotoxoplasmosis vs central nervous system lymphoma: why not both?","authors":"MI Alvarez Cardona, J Roque-Torres, V Rodríguez González, J Colon","doi":"10.1016/j.amjms.2025.12.026","DOIUrl":"10.1016/j.amjms.2025.12.026","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Opportunistic infections and malignancies are key considerations in immunosuppressed patients, particularly those with systemic autoimmune conditions requiring chronic immunosuppressive therapy. Central nervous system (CNS) lesions in this setting often present a diagnostic challenge, as their clinical and radiographic features may overlap significantly between infectious and malignant etiologies. We present the case of a middle-aged woman with systemic lupus erythematosus (SLE) on multiple immunosuppressive agents who was initially treated for cerebral toxoplasmosis but was ultimately diagnosed with primary CNS lymphoma.</div></div><div><h3>Case Presentation</h3><div>A 49-year-old female with SLE on hydroxychloroquine, prednisone, and mycophenolate mofetil presented with a two-day history of dizziness and severe bilateral frontal, temporal and occipital headache. Physical examination revealed no focal neurological deficits but was remarkable for diffuse hyperreflexia and positive bilateral Hoffman and Babinski tests. Brain MRI showed multiple rim-enhancing lesions with vasogenic edema and mild left-to-right midline shift. On further history, she reported owning nine cats and exposure to their feces. Both IgG and IgM antibodies for toxoplasmosis were significantly positive, therefore she was started on Trimethoprim/sulfamethoxazole (TMP/SMX) along with dexamethasone for anti-edema measures. Due to side effects, she was transitioned to atovaquone, clindamycin, and azithromycin, and later to pyrimethamine and sulfadiazine due to lack of improvement on CT imaging. However, a follow-up MR spectroscopy showed a significant improvement in the size of the lesions therefore this regimen was continued. Repeat imaging after completion of therapy showed decrease or resolution of most of the previously noted lesions, however there was an increase in the size of one main lesion. A left craniotomy with open biopsy was positive for diffuse large B-cell lymphoma. She was subsequently started on oncologic treatment with good response.</div></div><div><h3>Discussion</h3><div>This case illustrates the diagnostic complexity of CNS lesions in immunocompromised patients, where overlapping presentations of infectious and neoplastic processes may delay definitive diagnosis. The initial serologic and clinical picture strongly supported cerebral toxoplasmosis, yet persistent lesion growth prompted further evaluation and tissue biopsy, ultimately revealing primary CNS lymphoma. This highlights the importance of maintaining a broad differential diagnosis, close radiographic follow-up, and early consideration of biopsy when clinical or radiographic response is incongruent with initial diagnosis. Timely recognition and treatment of CNS lymphoma is critical, as outcomes improve with prompt treatment.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S14"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.028
JR Cotto Davila, JA Abou El Hossen Carmona
Case Report
Introduction: Ophthalmoplegia is an uncommon but clinically significant finding that may result from vascular, infectious, autoimmune, or neoplastic processes. While microvascular neuropathies and inflammatory disease are frequent causes, paraneoplastic mechanisms remain rare but important. Non-Hodgkin lymphoma (NHL) is a heterogeneous hematologic malignancy with systemic manifestations; however, ophthalmologic paraneoplastic syndromes are seldom the first presentation.
Case Presentation
A 44-year-old previously healthy male was referred to a tertiary hospital after his ophthalmologist detected bilateral optic edema and elevated intraocular pressures with progressive vision loss. He described one month of worsening visual decline and severe back pain radiating to the neck. Shortly before referral, he developed acute right ocular pain, ptosis, and complete ophthalmoplegia. Examination confirmed bilateral disc edema and a right fixed dilated pupil. Initial differentials included vasculitis, orbital infection, and autoimmune disease. Empiric intravenous steroids, acyclovir, and antibiotics produced minimal improvement.
Laboratory work revealed pancytopenia, anemia, thrombocytopenia, elevated LDH, and splenomegaly. Magnetic Resonance Imaging showed multiple vertebral and orbital lesions concerning for infiltration. Cerebrospinal fluid revealed pleocytosis but no malignant cells. Autoimmune studies (ANA, dsDNA, ANCA, HLA-B27) were unremarkable. Hyponatremia persisted despite saline, consistent with paraneoplastic SIADH. The patient later developed a blanching erythematous rash attributed to allopurinol hypersensitivity. Computed tomography angiography ruled out pulmonary embolism despite tachycardia. Hematology/oncology evaluation concluded advanced NHL with multisystem involvement, and bone marrow biopsy was arranged for confirmation.
Discussion
This case demonstrates ophthalmoplegia as an unusual paraneoplastic feature of NHL. The lack of response to antimicrobials and immunosuppression, combined with negative infectious and autoimmune studies, and systemic findings, supported a neoplastic origin. Though paraneoplastic ophthalmoplegia is more often reported in lung and breast cancer, it is increasingly recognized in hematologic disease. The coexistence of SIADH and pancytopenia reinforced the systemic reach of the malignancy. Multidisciplinary evaluation was vital to exclude mimics and expedite oncologic referral. Awareness of paraneoplastic mechanisms in atypical ophthalmologic presentations is critical, as early recognition may shorten diagnostic delays and improve patient outcomes.
{"title":"Paraneoplastic ophthalmoplegia as the initial manifestation of advanced non-Hodgkin lymphoma","authors":"JR Cotto Davila, JA Abou El Hossen Carmona","doi":"10.1016/j.amjms.2025.12.028","DOIUrl":"10.1016/j.amjms.2025.12.028","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Ophthalmoplegia is an uncommon but clinically significant finding that may result from vascular, infectious, autoimmune, or neoplastic processes. While microvascular neuropathies and inflammatory disease are frequent causes, paraneoplastic mechanisms remain rare but important. Non-Hodgkin lymphoma (NHL) is a heterogeneous hematologic malignancy with systemic manifestations; however, ophthalmologic paraneoplastic syndromes are seldom the first presentation.</div></div><div><h3>Case Presentation</h3><div>A 44-year-old previously healthy male was referred to a tertiary hospital after his ophthalmologist detected bilateral optic edema and elevated intraocular pressures with progressive vision loss. He described one month of worsening visual decline and severe back pain radiating to the neck. Shortly before referral, he developed acute right ocular pain, ptosis, and complete ophthalmoplegia. Examination confirmed bilateral disc edema and a right fixed dilated pupil. Initial differentials included vasculitis, orbital infection, and autoimmune disease. Empiric intravenous steroids, acyclovir, and antibiotics produced minimal improvement.</div><div>Laboratory work revealed pancytopenia, anemia, thrombocytopenia, elevated LDH, and splenomegaly. Magnetic Resonance Imaging showed multiple vertebral and orbital lesions concerning for infiltration. Cerebrospinal fluid revealed pleocytosis but no malignant cells. Autoimmune studies (ANA, dsDNA, ANCA, HLA-B27) were unremarkable. Hyponatremia persisted despite saline, consistent with paraneoplastic SIADH. The patient later developed a blanching erythematous rash attributed to allopurinol hypersensitivity. Computed tomography angiography ruled out pulmonary embolism despite tachycardia. Hematology/oncology evaluation concluded advanced NHL with multisystem involvement, and bone marrow biopsy was arranged for confirmation.</div></div><div><h3>Discussion</h3><div>This case demonstrates ophthalmoplegia as an unusual paraneoplastic feature of NHL. The lack of response to antimicrobials and immunosuppression, combined with negative infectious and autoimmune studies, and systemic findings, supported a neoplastic origin. Though paraneoplastic ophthalmoplegia is more often reported in lung and breast cancer, it is increasingly recognized in hematologic disease. The coexistence of SIADH and pancytopenia reinforced the systemic reach of the malignancy. Multidisciplinary evaluation was vital to exclude mimics and expedite oncologic referral. Awareness of paraneoplastic mechanisms in atypical ophthalmologic presentations is critical, as early recognition may shorten diagnostic delays and improve patient outcomes.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S15"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.070
A Crumbley, EL Nichols, C Cochran
Case Report
Background: While nutritional rickets is a well-known sequelae of vitamin D deficiency, other serious but less common consequences have been reported. We present a case of vitamin D deficiency with associated nutritional rickets and dilated cardiomyopathy in a 15-month-old.
Case Presentation
A 15-month-old unvaccinated male with history of focal epilepsy presented to the ED with three-day history of diarrhea and poor oral intake. During evaluation by the ED provider, the patient began seizing with stiffening of extremities and decreased level of consciousness. The patient continued to seize with desaturations for several minutes and eventually entered what was thought to be post-ictal state but quickly recognized as pulselessness with prompt initiation of CPR. The patient ultimately received 2 doses of epinephrine and approximately 13 minutes of chest compressions before achieving return of spontaneous circulation.
Differential diagnosis at time of resuscitation included respiratory failure, infection/sepsis, intracranial abnormality, hypovolemic shock, electrolyte abnormality and status epilepticus. Initial gas at resuscitation showed pH of 6.7, iCal of 0.6, lactate of 12, CO2 of 81, and bicarbonate of 10. Bedside ultrasound revealed poor cardiac function with decreased left ventricular squeeze. The patient required pressors and was admitted to the cardiac ICU with a diagnosis of dilated cardiomyopathy and an ejection fraction of 35%. Labs were significant for a calcium of 6.2, BNP of 1106, and alkaline phosphatase of 1700. On further history, it was discovered that patient was exclusively breastfed without vitamin D supplementation. After thorough work up including analysis of genetic causes for hypocalcemia, the patient's severe vitamin D deficiency with an initial vitamin D, 25-OH of 3.4 was ultimately determined as purely nutritional. Additionally, imaging of the long bones revealed bowing consistent with rickets.
Ultimately, the patient stabilized in the cardiac ICU and was discharged home two weeks later with a still depressed ejection fraction. Following correction of calcium and vitamin D via oral and IV supplementation, patient experienced slow myocardial recovery with current EF 70%.
Discussion
While most consider the implications of vitamin D deficiency on bone health, this case demonstrates the importance of normal vitamin D and calcium levels on other organ systems, particularly the heart. In some patients, Vitamin D deficiency will present as heart failure. This emphasizes the importance of patient education regarding supplementation of vitamin D for children with extremely restrictive diets or those being exclusively breastfed as neglecting to do so can lead to nutritional rickets and other adverse health outcomes as demonstrated by this case.
{"title":"Beyond the bones: a unique presentation of vitamin D deficiency","authors":"A Crumbley, EL Nichols, C Cochran","doi":"10.1016/j.amjms.2025.12.070","DOIUrl":"10.1016/j.amjms.2025.12.070","url":null,"abstract":"<div><h3>Case Report</h3><div>Background: While nutritional rickets is a well-known sequelae of vitamin D deficiency, other serious but less common consequences have been reported. We present a case of vitamin D deficiency with associated nutritional rickets and dilated cardiomyopathy in a 15-month-old.</div></div><div><h3>Case Presentation</h3><div>A 15-month-old unvaccinated male with history of focal epilepsy presented to the ED with three-day history of diarrhea and poor oral intake. During evaluation by the ED provider, the patient began seizing with stiffening of extremities and decreased level of consciousness. The patient continued to seize with desaturations for several minutes and eventually entered what was thought to be post-ictal state but quickly recognized as pulselessness with prompt initiation of CPR. The patient ultimately received 2 doses of epinephrine and approximately 13 minutes of chest compressions before achieving return of spontaneous circulation.</div><div>Differential diagnosis at time of resuscitation included respiratory failure, infection/sepsis, intracranial abnormality, hypovolemic shock, electrolyte abnormality and status epilepticus. Initial gas at resuscitation showed pH of 6.7, iCal of 0.6, lactate of 12, CO2 of 81, and bicarbonate of 10. Bedside ultrasound revealed poor cardiac function with decreased left ventricular squeeze. The patient required pressors and was admitted to the cardiac ICU with a diagnosis of dilated cardiomyopathy and an ejection fraction of 35%. Labs were significant for a calcium of 6.2, BNP of 1106, and alkaline phosphatase of 1700. On further history, it was discovered that patient was exclusively breastfed without vitamin D supplementation. After thorough work up including analysis of genetic causes for hypocalcemia, the patient's severe vitamin D deficiency with an initial vitamin D, 25-OH of 3.4 was ultimately determined as purely nutritional. Additionally, imaging of the long bones revealed bowing consistent with rickets.</div><div>Ultimately, the patient stabilized in the cardiac ICU and was discharged home two weeks later with a still depressed ejection fraction. Following correction of calcium and vitamin D via oral and IV supplementation, patient experienced slow myocardial recovery with current EF 70%.</div></div><div><h3>Discussion</h3><div>While most consider the implications of vitamin D deficiency on bone health, this case demonstrates the importance of normal vitamin D and calcium levels on other organ systems, particularly the heart. In some patients, Vitamin D deficiency will present as heart failure. This emphasizes the importance of patient education regarding supplementation of vitamin D for children with extremely restrictive diets or those being exclusively breastfed as neglecting to do so can lead to nutritional rickets and other adverse health outcomes as demonstrated by this case.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S41"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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