Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.092
M McCartney, L Jenkins, C Cochran, AL Molina
<div><h3>Case Report</h3><div>Pediatric Opioid-induced Unconsciousness and Encephalopathy (POUNCE) and Cerebellar, Hippocampal, and Basal Nuclei Transient Edema with Restricted Diffusion (CHANTER) syndromes exist on a spectrum of severe opioid-induced neurologic injury. Both manifest with acute altered mental status following opioid exposure, with the primary distinguishing feature being distribution and extent of injury appreciated on imaging. POUNCE demonstrates cerebellar cytotoxic edema and/or toxic leukoencephalopathy, while CHANTER involves bilateral hippocampi, cerebellar cortices, and basal ganglia. POUNCE is most common in children under five. CHANTER is more commonly seen in adults, though there is one reported case of a 2-year-old affected (Koenigsberg, et al., 2024). Both conditions carry the risk of hydrocephalus, profound neurologic injury, and death. Recognition is increasingly important in the context of the pediatric opioid epidemic, as timely diagnosis and intervention may improve outcomes. Case 1: A 2-year-old female was found difficult to awaken with a last known normal time of 9 hours prior. On arrival, her GCS was 6 with hypotonia, miotic pupils, tachycardia, hypotension, and respiratory distress progressing to worsening hypercapnia requiring intubation. CT revealed diffuse cerebellar hypodensity and edema with signs of elevated intracranial pressure; an external ventricular drain was emergently placed. MRI showed diffuse cerebellar swelling with smaller foci of cytotoxic edema in cerebral white matter and hippocampi. Comprehensive toxicology revealed fentanyl ingestion, confirming POUNCE. She required ventriculoperitoneal shunting for hydrocephalus. Case 2: A 19-month-old previously healthy female presented with altered mental status, with a last known normal time of 15 hours prior. GCS was 4, prompting intubation. MRI demonstrated diffusion restriction in areas consistent with CHANTER. She underwent decompressive craniectomy and EVD placement. Toxicology was negative, though the imaging pattern strongly suggested opioid-related injury. For both patients, extensive infectious, autoimmune, neurologic, and vascular workup were negative. Both patients survived but required prolonged ICU care, rehabilitation, and gastrostomy tube placement. Long-term complications included persistent neurodevelopmental deficits, spasticity, and need for respiratory support. Prognosis in POUNCE and CHANTER remains poorly defined. Reported outcomes range from full recovery to severe disability or death. Younger children may be particularly susceptible due to high cerebellar opioid receptor density. Both syndromes often demonstrate resistance to naloxone reversal, highlighting the need for alternative therapeutic strategies. Early recognition, aggressive neurocritical care, and multidisciplinary rehabilitation are essential. Systematic case reporting and research into host susceptibility are needed to guide management and improve outcomes for affe
{"title":"POUNCE and CHANTER: A tale of two pediatric opioid-induced neurologic injury syndromes","authors":"M McCartney, L Jenkins, C Cochran, AL Molina","doi":"10.1016/j.amjms.2025.12.092","DOIUrl":"10.1016/j.amjms.2025.12.092","url":null,"abstract":"<div><h3>Case Report</h3><div>Pediatric Opioid-induced Unconsciousness and Encephalopathy (POUNCE) and Cerebellar, Hippocampal, and Basal Nuclei Transient Edema with Restricted Diffusion (CHANTER) syndromes exist on a spectrum of severe opioid-induced neurologic injury. Both manifest with acute altered mental status following opioid exposure, with the primary distinguishing feature being distribution and extent of injury appreciated on imaging. POUNCE demonstrates cerebellar cytotoxic edema and/or toxic leukoencephalopathy, while CHANTER involves bilateral hippocampi, cerebellar cortices, and basal ganglia. POUNCE is most common in children under five. CHANTER is more commonly seen in adults, though there is one reported case of a 2-year-old affected (Koenigsberg, et al., 2024). Both conditions carry the risk of hydrocephalus, profound neurologic injury, and death. Recognition is increasingly important in the context of the pediatric opioid epidemic, as timely diagnosis and intervention may improve outcomes. Case 1: A 2-year-old female was found difficult to awaken with a last known normal time of 9 hours prior. On arrival, her GCS was 6 with hypotonia, miotic pupils, tachycardia, hypotension, and respiratory distress progressing to worsening hypercapnia requiring intubation. CT revealed diffuse cerebellar hypodensity and edema with signs of elevated intracranial pressure; an external ventricular drain was emergently placed. MRI showed diffuse cerebellar swelling with smaller foci of cytotoxic edema in cerebral white matter and hippocampi. Comprehensive toxicology revealed fentanyl ingestion, confirming POUNCE. She required ventriculoperitoneal shunting for hydrocephalus. Case 2: A 19-month-old previously healthy female presented with altered mental status, with a last known normal time of 15 hours prior. GCS was 4, prompting intubation. MRI demonstrated diffusion restriction in areas consistent with CHANTER. She underwent decompressive craniectomy and EVD placement. Toxicology was negative, though the imaging pattern strongly suggested opioid-related injury. For both patients, extensive infectious, autoimmune, neurologic, and vascular workup were negative. Both patients survived but required prolonged ICU care, rehabilitation, and gastrostomy tube placement. Long-term complications included persistent neurodevelopmental deficits, spasticity, and need for respiratory support. Prognosis in POUNCE and CHANTER remains poorly defined. Reported outcomes range from full recovery to severe disability or death. Younger children may be particularly susceptible due to high cerebellar opioid receptor density. Both syndromes often demonstrate resistance to naloxone reversal, highlighting the need for alternative therapeutic strategies. Early recognition, aggressive neurocritical care, and multidisciplinary rehabilitation are essential. Systematic case reporting and research into host susceptibility are needed to guide management and improve outcomes for affe","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S56"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175465","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.2025.12.048
S Sandadi, G Kasniya, S Anbalagan, E Sujakhu
<div><h3>Case Report</h3><div>Introduction: Gestational alloimmune liver disease (GALD) is a rare but leading cause of neonatal liver failure (NLF), presenting at birth. It is thought to result from maternal IgG antibodies targeting fetal hepatocyte antigens in utero, activating the terminal complement cascade and causing hepatocyte injury. Once considered fatal, GALD now carries a favorable prognosis when promptly diagnosed and treated with intravenous immunoglobulin (IVIG) and exchange transfusion (ET). Despite these advances, diagnosis remains challenging. Clinical features overlap with other causes of NLF and current diagnostic tools—such as MRI and buccal biopsy—lack sensitivity, particularly in cases without extrahepatic siderosis. Furthermore, immunostaining for C5b9, though frequently used, is nonspecific.</div></div><div><h3>Case presentation</h3><div>A 1-day-old full-term infant was transferred to our NICU with concerns of respiratory distress, jaundice, persistent hypoglycemia, and hepatosplenomegaly. Maternal history was significant for a prior intrauterine fetal demise.</div><div>Further evaluation revealed direct hyperbilirubinemia, transaminitis, anemia, thrombocytopenia, leukocytosis, and elevated ferritin and alpha-fetoprotein. A workup for other causes of NLF, including viral hepatitis, galactosemia, tyrosinemia, organic acidemias, and genetic disorders, was performed. Abdominal ultrasound demonstrated hepatomegaly, while MRI for liver iron concentration estimation was inconclusive. Buccal biopsy was deferred.</div><div>A high index of clinical suspicion, combined with the biochemical abnormalities, led to a diagnosis of gestational alloimmune liver disease. Prompt therapy with IVIG and isovolumetric double-volume exchange transfusion was initiated.</div><div>Liver enzymes initially trended upward but stabilized by day 4 of life and subsequently decreased. The infant continues to follow up in the gastroenterology clinic, and evaluation for other causes of NLF has been negative or inconclusive.</div></div><div><h3>Discussion</h3><div>This case emphasizes the need for a high index of clinical suspicion for GALD when evaluating acute liver injury in newborn. Both MRI and buccal biopsy have only 60% sensitivity, and these modalities are not readily available in many centers. Maternal history of prior pregnancy loss can help guide management, as in our case. Furthermore, treatment with high-dose IVIG during subsequent pregnancies has been shown to modify neonatal hemochromatosis, rendering it non-lethal to the neonate. Over the past decade, management of GALD has shifted from conventional antioxidant and chelation therapy to IVIG and exchange transfusion, resulting in improved outcomes, including overall survival (57.9% vs 70%) and native liver survival (31.6% vs 55%).</div></div><div><h3>Conclusion</h3><div>Although biochemical, imaging, immunostaining, and genetic testing contribute to establishing a diagnosis of GALD, prompt treat
{"title":"Diagnostic and treatment dilemma in a case of gestational alloimmune liver disease","authors":"S Sandadi, G Kasniya, S Anbalagan, E Sujakhu","doi":"10.1016/j.amjms.2025.12.048","DOIUrl":"10.1016/j.amjms.2025.12.048","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Gestational alloimmune liver disease (GALD) is a rare but leading cause of neonatal liver failure (NLF), presenting at birth. It is thought to result from maternal IgG antibodies targeting fetal hepatocyte antigens in utero, activating the terminal complement cascade and causing hepatocyte injury. Once considered fatal, GALD now carries a favorable prognosis when promptly diagnosed and treated with intravenous immunoglobulin (IVIG) and exchange transfusion (ET). Despite these advances, diagnosis remains challenging. Clinical features overlap with other causes of NLF and current diagnostic tools—such as MRI and buccal biopsy—lack sensitivity, particularly in cases without extrahepatic siderosis. Furthermore, immunostaining for C5b9, though frequently used, is nonspecific.</div></div><div><h3>Case presentation</h3><div>A 1-day-old full-term infant was transferred to our NICU with concerns of respiratory distress, jaundice, persistent hypoglycemia, and hepatosplenomegaly. Maternal history was significant for a prior intrauterine fetal demise.</div><div>Further evaluation revealed direct hyperbilirubinemia, transaminitis, anemia, thrombocytopenia, leukocytosis, and elevated ferritin and alpha-fetoprotein. A workup for other causes of NLF, including viral hepatitis, galactosemia, tyrosinemia, organic acidemias, and genetic disorders, was performed. Abdominal ultrasound demonstrated hepatomegaly, while MRI for liver iron concentration estimation was inconclusive. Buccal biopsy was deferred.</div><div>A high index of clinical suspicion, combined with the biochemical abnormalities, led to a diagnosis of gestational alloimmune liver disease. Prompt therapy with IVIG and isovolumetric double-volume exchange transfusion was initiated.</div><div>Liver enzymes initially trended upward but stabilized by day 4 of life and subsequently decreased. The infant continues to follow up in the gastroenterology clinic, and evaluation for other causes of NLF has been negative or inconclusive.</div></div><div><h3>Discussion</h3><div>This case emphasizes the need for a high index of clinical suspicion for GALD when evaluating acute liver injury in newborn. Both MRI and buccal biopsy have only 60% sensitivity, and these modalities are not readily available in many centers. Maternal history of prior pregnancy loss can help guide management, as in our case. Furthermore, treatment with high-dose IVIG during subsequent pregnancies has been shown to modify neonatal hemochromatosis, rendering it non-lethal to the neonate. Over the past decade, management of GALD has shifted from conventional antioxidant and chelation therapy to IVIG and exchange transfusion, resulting in improved outcomes, including overall survival (57.9% vs 70%) and native liver survival (31.6% vs 55%).</div></div><div><h3>Conclusion</h3><div>Although biochemical, imaging, immunostaining, and genetic testing contribute to establishing a diagnosis of GALD, prompt treat","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S26-S27"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175511","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.2025.12.047
A Stedke, N Boone
<div><h3>Case Report</h3><div>Background: Bronze baby syndrome is a skin discoloration that occurs in babies who receive intensive phototherapy for hyperbilirubinemia. While mechanisms remain unclear, there have been many proposed mechanisms of this skin discoloration including increased copper porphyrins (Rubaltelli 1983), biliverdin (Purcell 1987), and cyclobilirubin (Itoh 2017). Predisposing factors to bronze baby syndrome include obstructive jaundice, transfusion, hemorrhage, and elevated liver transaminases (Itoh 2017). We present two cases with discordant SpO2 and PaO2 levels at peak bronzing.</div></div><div><h3>Cases</h3><div>We describe two preterm neonates with alloimmune hemolytic disease of the newborn following multiple intrauterine transfusions (IUT). The first neonate (Baby A) was 33 weeks and born to a mother with type B, Rh negative blood and anti-D and anti-E antibodies. Baby A received 6 IUTs, and 2 blood transfusions on day of life 1 for initial hematocrit of 14%. Baby A was on intensive phototherapy for 6 days and received IVIG, but did not require an exchange transfusion. Direct bilirubin peak was >8 and remained >6 for several weeks; there was evidence of cholestasis and Ursodiol was initiated. Baby A required intubation, ventilation with 100% O2, and inhaled nitric oxide due to persistent desaturation on day of life 4; arterial O2 was then found to be elevated, and respiratory support was weaned down quickly. Placing the pulse oximeter in areas of covered skin not exposed to phototherapy (ie. ear) revealed normal saturations.</div><div>The second neonate (Baby B) was 32 weeks and born to a mother with blood type B, Rh negative and anti-C, anti- D, anti-G, and anti-K antibodies. The patient received 4 IUTs and one blood transfusion after birth for initial hematocrit of 21%. Baby B was on intensive phototherapy for 5 days, required IVIG twice, and required an exchange transfusion. Direct bilirubin peaked >4, and quickly decreased to <3. On day of life 4, Baby B required increasing oxygen, and was found to have high arterial O2 despite persistent low SpO2. Bronzing of skin was marked and peaked near day of life 4-5 for both cases, which correlated with the discrepancy between pulse oximeter and arterial oxygenation measurements, which persisted despite increase in respiratory support in both cases.</div></div><div><h3>Discussion</h3><div>Pulse oximeters use spectrophotometry to emit certain wavelengths of light; oxygenated hemoglobin absorbs infrared light and deoxygenated hemoglobin absorbs red light. Wavelength reflection is then used to estimate a ratio of oxygenated to deoxygenated hemoglobin (Jubran 1999). We suggest that a photoactive substance, possibly a byproduct of multiple IUTs, increases the absorption of the red light, leading to the bronze discoloration on exam and falsely elevating the ratio of deoxygenated to oxygenated hemoglobin. Clinicians should confirm hypoxemia with arterial blood gases or by
{"title":"A tale of two bronzed babies and false hypoxia","authors":"A Stedke, N Boone","doi":"10.1016/j.amjms.2025.12.047","DOIUrl":"10.1016/j.amjms.2025.12.047","url":null,"abstract":"<div><h3>Case Report</h3><div>Background: Bronze baby syndrome is a skin discoloration that occurs in babies who receive intensive phototherapy for hyperbilirubinemia. While mechanisms remain unclear, there have been many proposed mechanisms of this skin discoloration including increased copper porphyrins (Rubaltelli 1983), biliverdin (Purcell 1987), and cyclobilirubin (Itoh 2017). Predisposing factors to bronze baby syndrome include obstructive jaundice, transfusion, hemorrhage, and elevated liver transaminases (Itoh 2017). We present two cases with discordant SpO2 and PaO2 levels at peak bronzing.</div></div><div><h3>Cases</h3><div>We describe two preterm neonates with alloimmune hemolytic disease of the newborn following multiple intrauterine transfusions (IUT). The first neonate (Baby A) was 33 weeks and born to a mother with type B, Rh negative blood and anti-D and anti-E antibodies. Baby A received 6 IUTs, and 2 blood transfusions on day of life 1 for initial hematocrit of 14%. Baby A was on intensive phototherapy for 6 days and received IVIG, but did not require an exchange transfusion. Direct bilirubin peak was >8 and remained >6 for several weeks; there was evidence of cholestasis and Ursodiol was initiated. Baby A required intubation, ventilation with 100% O2, and inhaled nitric oxide due to persistent desaturation on day of life 4; arterial O2 was then found to be elevated, and respiratory support was weaned down quickly. Placing the pulse oximeter in areas of covered skin not exposed to phototherapy (ie. ear) revealed normal saturations.</div><div>The second neonate (Baby B) was 32 weeks and born to a mother with blood type B, Rh negative and anti-C, anti- D, anti-G, and anti-K antibodies. The patient received 4 IUTs and one blood transfusion after birth for initial hematocrit of 21%. Baby B was on intensive phototherapy for 5 days, required IVIG twice, and required an exchange transfusion. Direct bilirubin peaked >4, and quickly decreased to <3. On day of life 4, Baby B required increasing oxygen, and was found to have high arterial O2 despite persistent low SpO2. Bronzing of skin was marked and peaked near day of life 4-5 for both cases, which correlated with the discrepancy between pulse oximeter and arterial oxygenation measurements, which persisted despite increase in respiratory support in both cases.</div></div><div><h3>Discussion</h3><div>Pulse oximeters use spectrophotometry to emit certain wavelengths of light; oxygenated hemoglobin absorbs infrared light and deoxygenated hemoglobin absorbs red light. Wavelength reflection is then used to estimate a ratio of oxygenated to deoxygenated hemoglobin (Jubran 1999). We suggest that a photoactive substance, possibly a byproduct of multiple IUTs, increases the absorption of the red light, leading to the bronze discoloration on exam and falsely elevating the ratio of deoxygenated to oxygenated hemoglobin. Clinicians should confirm hypoxemia with arterial blood gases or by","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S25-S26"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175512","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.2025.12.012
S Javaid , M Maniya , N Imtiaz , LA Khan , A Hamid , R Mentz , J Butler , ME Hall
Purpose
SGLT2 inhibitors improve cardiovascular and renal outcomes in non-surgical settings, but their utility in the context of cardiac surgery and interventional procedures remains uncertain.
Methods
PubMed, Embase, and trial registries were searched through September 2025. Eligible studies compared SGLT2 inhibitors with placebo or other hypoglycemics in adults undergoing cardiac procedures. Pooled results were reported as odds ratios (ORs) with 95% confidence intervals (Cls).
Results
A total of 16 studies comprising 5,129 individuals were analyzed. SGLT2 inhibitors significantly reduced the risk of postoperative atrial fibrillation (POAF) when administered intraoperatively (OR: 0.36; 95% CI: 0.16–0.81). They were also associated with a significant reduction in acute kidney injury (AKI) risk (OR: 0.53; 95% CI: 0.31–0.91). Nominal reductions were observed in all-cause mortality (OR: 0.75; 95% CI: 0.54–1.04) and heart failure (HF) hospitalization (OR: 0.61; 95% CI: 0.36–1.03), though neither reached statistical significance. No significant effects were noted for cardiovascular mortality or urinary tract infection risk, while a trend toward increased risk of diabetic ketoacidosis (DKA) was observed (p=0.06).
Conclusions
SGLT2 inhibitors reduced POAF with intraoperative use and lowered the risk of AKI. Nonsignificant reductions were seen in mortality and HF hospitalization, whereas a notable but nonsignificant increase in DKA risk was observed. Further research is needed to define their optimal timing and benefits in cardiac procedures.
{"title":"SGLT2 inhibitors in cardiac procedures: associations with reduced atrial fibrillation and acute kidney injury","authors":"S Javaid , M Maniya , N Imtiaz , LA Khan , A Hamid , R Mentz , J Butler , ME Hall","doi":"10.1016/j.amjms.2025.12.012","DOIUrl":"10.1016/j.amjms.2025.12.012","url":null,"abstract":"<div><h3>Purpose</h3><div>SGLT2 inhibitors improve cardiovascular and renal outcomes in non-surgical settings, but their utility in the context of cardiac surgery and interventional procedures remains uncertain.</div></div><div><h3>Methods</h3><div>PubMed, Embase, and trial registries were searched through September 2025. Eligible studies compared SGLT2 inhibitors with placebo or other hypoglycemics in adults undergoing cardiac procedures. Pooled results were reported as odds ratios (ORs) with 95% confidence intervals (Cls).</div></div><div><h3>Results</h3><div>A total of 16 studies comprising 5,129 individuals were analyzed. SGLT2 inhibitors significantly reduced the risk of postoperative atrial fibrillation (POAF) when administered intraoperatively (OR: 0.36; 95% CI: 0.16–0.81). They were also associated with a significant reduction in acute kidney injury (AKI) risk (OR: 0.53; 95% CI: 0.31–0.91). Nominal reductions were observed in all-cause mortality (OR: 0.75; 95% CI: 0.54–1.04) and heart failure (HF) hospitalization (OR: 0.61; 95% CI: 0.36–1.03), though neither reached statistical significance. No significant effects were noted for cardiovascular mortality or urinary tract infection risk, while a trend toward increased risk of diabetic ketoacidosis (DKA) was observed (p=0.06).</div></div><div><h3>Conclusions</h3><div>SGLT2 inhibitors reduced POAF with intraoperative use and lowered the risk of AKI. Nonsignificant reductions were seen in mortality and HF hospitalization, whereas a notable but nonsignificant increase in DKA risk was observed. Further research is needed to define their optimal timing and benefits in cardiac procedures.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S4-S5"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175527","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/S0002-9629(26)00035-2
{"title":"Tulane Disclosure Policy","authors":"","doi":"10.1016/S0002-9629(26)00035-2","DOIUrl":"10.1016/S0002-9629(26)00035-2","url":null,"abstract":"","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page v"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175536","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.2025.12.024
J Theriault, J Sousou, A Karan, F Rollini
Case Report
Atherosclerotic cardiovascular disease (ASCVD) remains a leading cause of mortality in individuals with unrecognized risk factors. Primary prevention strategies centered on early identification of lipid abnormalities are essential to managing these risks before the onset of clinical events. Lipoprotein (a) or Lp(a) has rapidly gained increasing recognition as an accurate independent risk factor for ASCVD. However, its clinical interpretation can be confounded by conditions such as hypertriglyceridemia, potentially masking high risk patients and leading to missed opportunities for intervention.
A 49-year-old male with a past medical history of hypertension, hyperlipidemia, type 2 diabetes, and obstructive sleep apnea presented to the emergency department with left sided chest pain. EKG showed ST-segment elevations in the inferolateral leads. The patient was taken emergently to the cardiac catheterization lab. Left heart catheterization revealed a 100% thrombotic occlusion of the proximal right coronary artery. A drug-eluting stent was successfully placed with post-dilation using a 3.5 mm non-compliant balloon. Labs on admission revealed a markedly abnormal lipid profile, including triglycerides of 2424 mg/dL, total cholesterol of 324 mg/dL, LP(a) was undetectable, and apolipoprotein B of 170 mg/dL.
Lp(a) is increasingly recognized as a powerful tool in the realm of primary prevention for ASCVD. It can offer valuable insight into an individual's inherited cardiovascular risk. However, its reliability as an effective marker can be significantly compromised in the setting of hypertriglyceridemia. In this case, the patient's initial Lp(a) level appeared reassuringly low, but the measurement was obtained during a period of extreme hypertriglyceridemia. Triglycerides and Lp(a) are known to have an inverse correlation. Therefore, Lp(a) values should never be interpreted in isolation. This diagnostic limitation is especially relevant in patients with metabolic syndrome, poorly controlled diabetes, or familial dyslipidemias, where both hypertriglyceridemia and elevated Lp(a) may coexist. Interpreting Lp(a) values without accounting for these factors may lead to clinicians being falsely reassured, missing the opportunity to implement optimal preventive strategies.
Lp(a) values should not be measured in the setting of high triglycerides. Further research is needed to establish optimal testing conditions under which Lp(a) can provide the most accurate assessment of cardiovascular risk.
{"title":"Hypertriglyceridemia can cause low Lp(a), falsely lowering cardiovascular risk","authors":"J Theriault, J Sousou, A Karan, F Rollini","doi":"10.1016/j.amjms.2025.12.024","DOIUrl":"10.1016/j.amjms.2025.12.024","url":null,"abstract":"<div><h3>Case Report</h3><div>Atherosclerotic cardiovascular disease (ASCVD) remains a leading cause of mortality in individuals with unrecognized risk factors. Primary prevention strategies centered on early identification of lipid abnormalities are essential to managing these risks before the onset of clinical events. Lipoprotein (a) or Lp(a) has rapidly gained increasing recognition as an accurate independent risk factor for ASCVD. However, its clinical interpretation can be confounded by conditions such as hypertriglyceridemia, potentially masking high risk patients and leading to missed opportunities for intervention.</div><div>A 49-year-old male with a past medical history of hypertension, hyperlipidemia, type 2 diabetes, and obstructive sleep apnea presented to the emergency department with left sided chest pain. EKG showed ST-segment elevations in the inferolateral leads. The patient was taken emergently to the cardiac catheterization lab. Left heart catheterization revealed a 100% thrombotic occlusion of the proximal right coronary artery. A drug-eluting stent was successfully placed with post-dilation using a 3.5 mm non-compliant balloon. Labs on admission revealed a markedly abnormal lipid profile, including triglycerides of 2424 mg/dL, total cholesterol of 324 mg/dL, LP(a) was undetectable, and apolipoprotein B of 170 mg/dL.</div><div>Lp(a) is increasingly recognized as a powerful tool in the realm of primary prevention for ASCVD. It can offer valuable insight into an individual's inherited cardiovascular risk. However, its reliability as an effective marker can be significantly compromised in the setting of hypertriglyceridemia. In this case, the patient's initial Lp(a) level appeared reassuringly low, but the measurement was obtained during a period of extreme hypertriglyceridemia. Triglycerides and Lp(a) are known to have an inverse correlation. Therefore, Lp(a) values should never be interpreted in isolation. This diagnostic limitation is especially relevant in patients with metabolic syndrome, poorly controlled diabetes, or familial dyslipidemias, where both hypertriglyceridemia and elevated Lp(a) may coexist. Interpreting Lp(a) values without accounting for these factors may lead to clinicians being falsely reassured, missing the opportunity to implement optimal preventive strategies.</div><div>Lp(a) values should not be measured in the setting of high triglycerides. Further research is needed to establish optimal testing conditions under which Lp(a) can provide the most accurate assessment of cardiovascular risk.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S12-S13"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175540","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.2025.12.046
J Roque-Torres, MI Alvarez Cardona, V Rodríguez González, J Colon
Case Report
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary condition that typically manifests in mid-adulthood as recurrent subcortical ischemic strokes, migraine with aura, progressive cognitive decline, and eventually vascular dementia. It is caused by an autosomal dominant mutation in the NOTCH3 gene on chromosome 19, which impairs cerebral blood flow, predisposing to ischemic injury. Although the diagnosis is confirmed by genetic testing, clinical recognition by physicians is necessary in order to prompt adequate evaluation.
Case Presentation
A 30-year-old female with medical history of hypertension, asthma, and migraine presented with a two-day history of right-sided facial drooping and headache, left-sided upper and lower extremity weakness, slurred speech, and impaired gait. The patient reported a similar episode two years prior, but symptoms resolved quickly, therefore no medical evaluation was sought out. Additionally, the patient's mother, maternal aunt, and maternal grandmother had all suffered from recurrent strokes at early ages. On this admission, physical examination was remarkable only for mild right-sided facial asymmetry, dysarthria, and ataxic gait. The National Institute of Health Stroke Scale score was 3. Head CT and MRI scans were negative, and cardiology evaluation showed no evidence of cardioembolic or carotid origin of symptoms. Given concern for an ischemic cerebrovascular accident, dual antiplatelet and high-intensity statin therapies were initiated for secondary prevention. During outpatient follow-up, genetic testing confirmed CADASIL in the patient, her mother, aunt, and grandmother.
Discussion
A cryptogenic stroke is an ischemic stroke for which no probable cause is identified. Possible etiologies include patent foramen ovale with paradoxical embolism, paroxysmal atrial fibrillation, undetected small-vessel disease, and many more. CADASIL is an underdiagnosed source of cerebral small-vessel disease. Physician unfamiliarity with the disease, along with its variable clinical presentation and atypical features are the most likely sources of underdiagnosis. While there is no disease-modifying treatment, diagnosis is still of utmost importance in order to provide adequate preventive, symptomatic, and supportive management, without unnecessary additional therapies. Additionally, genetic counseling plays a major role as test results may place individuals and family members at risk of psychological distress, and it addresses reproductive options. In conclusion, this case highlights that while the clinical presentation of CADASIL may not always be straightforward, it is important to maintain a broad differential diagnosis and test for it when clinical suspicion is high, in order to provide patients with adequate treatment and counseling.
{"title":"Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): an underrecognized and underdiagnosed cause of cryptogenic strokes","authors":"J Roque-Torres, MI Alvarez Cardona, V Rodríguez González, J Colon","doi":"10.1016/j.amjms.2025.12.046","DOIUrl":"10.1016/j.amjms.2025.12.046","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary condition that typically manifests in mid-adulthood as recurrent subcortical ischemic strokes, migraine with aura, progressive cognitive decline, and eventually vascular dementia. It is caused by an autosomal dominant mutation in the NOTCH3 gene on chromosome 19, which impairs cerebral blood flow, predisposing to ischemic injury. Although the diagnosis is confirmed by genetic testing, clinical recognition by physicians is necessary in order to prompt adequate evaluation.</div></div><div><h3>Case Presentation</h3><div>A 30-year-old female with medical history of hypertension, asthma, and migraine presented with a two-day history of right-sided facial drooping and headache, left-sided upper and lower extremity weakness, slurred speech, and impaired gait. The patient reported a similar episode two years prior, but symptoms resolved quickly, therefore no medical evaluation was sought out. Additionally, the patient's mother, maternal aunt, and maternal grandmother had all suffered from recurrent strokes at early ages. On this admission, physical examination was remarkable only for mild right-sided facial asymmetry, dysarthria, and ataxic gait. The National Institute of Health Stroke Scale score was 3. Head CT and MRI scans were negative, and cardiology evaluation showed no evidence of cardioembolic or carotid origin of symptoms. Given concern for an ischemic cerebrovascular accident, dual antiplatelet and high-intensity statin therapies were initiated for secondary prevention. During outpatient follow-up, genetic testing confirmed CADASIL in the patient, her mother, aunt, and grandmother.</div></div><div><h3>Discussion</h3><div>A cryptogenic stroke is an ischemic stroke for which no probable cause is identified. Possible etiologies include patent foramen ovale with paradoxical embolism, paroxysmal atrial fibrillation, undetected small-vessel disease, and many more. CADASIL is an underdiagnosed source of cerebral small-vessel disease. Physician unfamiliarity with the disease, along with its variable clinical presentation and atypical features are the most likely sources of underdiagnosis. While there is no disease-modifying treatment, diagnosis is still of utmost importance in order to provide adequate preventive, symptomatic, and supportive management, without unnecessary additional therapies. Additionally, genetic counseling plays a major role as test results may place individuals and family members at risk of psychological distress, and it addresses reproductive options. In conclusion, this case highlights that while the clinical presentation of CADASIL may not always be straightforward, it is important to maintain a broad differential diagnosis and test for it when clinical suspicion is high, in order to provide patients with adequate treatment and counseling.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S25"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175542","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.2025.12.050
H Afrin, I Gajendran, R Cotter, S Tengsupakul, G Kasniya, S Anbalagan
<div><h3>Case Report</h3><div>Introduction: Symptomatic thrombosis is rare in preterm neonates, with central catheters increasing the risk. We report three cases (Table) successfully treated with recombinant-Tissue Plasminogen Activator (r-TPA): a Methicillin-Resistant <em>Staphylococcus aureus</em> (MRSA) - infected primary cardiac thrombus, an extensive non-infected, obstructive IVC thrombus, and bilateral renal vein thrombosis.</div></div><div><h3>Patient 1</h3><div>A 25+6 week neonate presented with abdominal distension, pallor, leukocytosis, thrombocytopenia, and elevated C-reactive protein on day of life (DOL) 48. Blood culture grew MRSA within 24 hours, and CSF culture confirmed MRSA meningitis. Persistent bacteremia despite 5 days of antibiotics and the absence of central catheters led to an echocardiography on DOL 53 (Fig. 1), which revealed a large cardiac vegetation extending into the main pulmonary artery. After two days, worsening respiratory failure necessitated mechanical ventilation and r-TPA infusion, along with continuous infusion of vancomycin and the addition of rifampin. During the treatment, the patient had a mild pulmonary hemorrhage that was treated. With 48 hours of r-TPA, the thrombus reduced significantly, prompting transition to low molecular weight heparin (LMWH). Complete thrombus resolution was confirmed on DOL 75, and bacteremia resolved on DOL 56.</div></div><div><h3>Patient 2</h3><div>A 24+6 week neonate developed hypotension, thrombocytopenia, oliguria, and respiratory distress on DOL 32. Echo revealed an obstructive intrahepatic IVC thrombus, free-floating in the right atrium (RA) and extending into the right ventricle (Fig. 1). The Patient previously required central catheters until DOL 24. Treatment with r-TPA was started on DOL 34 due to the obstructive and extensive nature of the thrombus. After 6 days of r-TPA therapy, the treatment was transitioned to LMWH as the RA thrombus resolved and the size of the intrahepatic thrombus decreased, accompanied by improved blood flow. LMWH was given for 3 months.</div></div><div><h3>Patient 3</h3><div>A 25+4 week neonate developed hematuria, thrombocytopenia, and anemia on DOL 25. Renal US showed bilateral renal vein & IVC thrombi. It was treated with r-TPA for 3 days without complications, resulting in the complete resolution of the thrombi. The patient was transitioned to LMWH for 2 weeks. Subsequent development of hypertension led to the identification of recurrent IVC thrombus (distal/intrahepatic), confirmed by magnetic resonance venography on DOL 102. It was treated with LMWH for 3 months via subcutaneous port injections. Patients had a history of central catheters from birth till DOL 41, but due to recurrent thrombosis, a workup revealed underlying Homocystinuria (pro-thrombotic disorder).</div></div><div><h3>Conclusion</h3><div>Effective treatment of significant thrombi in extremely preterm neonates using r-tPA is possible. With careful serial monitoring su
{"title":"Successful use of thrombolytic agent in extremely preterm neonates – case series","authors":"H Afrin, I Gajendran, R Cotter, S Tengsupakul, G Kasniya, S Anbalagan","doi":"10.1016/j.amjms.2025.12.050","DOIUrl":"10.1016/j.amjms.2025.12.050","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Symptomatic thrombosis is rare in preterm neonates, with central catheters increasing the risk. We report three cases (Table) successfully treated with recombinant-Tissue Plasminogen Activator (r-TPA): a Methicillin-Resistant <em>Staphylococcus aureus</em> (MRSA) - infected primary cardiac thrombus, an extensive non-infected, obstructive IVC thrombus, and bilateral renal vein thrombosis.</div></div><div><h3>Patient 1</h3><div>A 25+6 week neonate presented with abdominal distension, pallor, leukocytosis, thrombocytopenia, and elevated C-reactive protein on day of life (DOL) 48. Blood culture grew MRSA within 24 hours, and CSF culture confirmed MRSA meningitis. Persistent bacteremia despite 5 days of antibiotics and the absence of central catheters led to an echocardiography on DOL 53 (Fig. 1), which revealed a large cardiac vegetation extending into the main pulmonary artery. After two days, worsening respiratory failure necessitated mechanical ventilation and r-TPA infusion, along with continuous infusion of vancomycin and the addition of rifampin. During the treatment, the patient had a mild pulmonary hemorrhage that was treated. With 48 hours of r-TPA, the thrombus reduced significantly, prompting transition to low molecular weight heparin (LMWH). Complete thrombus resolution was confirmed on DOL 75, and bacteremia resolved on DOL 56.</div></div><div><h3>Patient 2</h3><div>A 24+6 week neonate developed hypotension, thrombocytopenia, oliguria, and respiratory distress on DOL 32. Echo revealed an obstructive intrahepatic IVC thrombus, free-floating in the right atrium (RA) and extending into the right ventricle (Fig. 1). The Patient previously required central catheters until DOL 24. Treatment with r-TPA was started on DOL 34 due to the obstructive and extensive nature of the thrombus. After 6 days of r-TPA therapy, the treatment was transitioned to LMWH as the RA thrombus resolved and the size of the intrahepatic thrombus decreased, accompanied by improved blood flow. LMWH was given for 3 months.</div></div><div><h3>Patient 3</h3><div>A 25+4 week neonate developed hematuria, thrombocytopenia, and anemia on DOL 25. Renal US showed bilateral renal vein & IVC thrombi. It was treated with r-TPA for 3 days without complications, resulting in the complete resolution of the thrombi. The patient was transitioned to LMWH for 2 weeks. Subsequent development of hypertension led to the identification of recurrent IVC thrombus (distal/intrahepatic), confirmed by magnetic resonance venography on DOL 102. It was treated with LMWH for 3 months via subcutaneous port injections. Patients had a history of central catheters from birth till DOL 41, but due to recurrent thrombosis, a workup revealed underlying Homocystinuria (pro-thrombotic disorder).</div></div><div><h3>Conclusion</h3><div>Effective treatment of significant thrombi in extremely preterm neonates using r-tPA is possible. With careful serial monitoring su","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S27-S28"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175580","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.2025.12.058
E Oubre, VH Aguilar, MG Johnson
Case Report
The American College of Obstetricians and Gynecologists recommend offering cell-free DNA (cfDNA) screening as a first tier, first-line option for all pregnant women to screen for chromosomal aneuploidies, sex chromosome abnormalities, and microdeletions in a developing fetus. However, there are limitations of cfDNA in cases of tissue-specific mosaicism that can lead to both false positives and false negatives. We present a case of a male infant born at 36+5 weeks gestation via urgent cesarean section to a 28-year-old G3P2002 female. Prenatal testing included cfDNA obtained at 11 weeks’ gestation with findings suggestive of 45, X chromosome aneuploidy, otherwise known as Turner Syndrome. However, the testing also identified the presence of a Y chromosome, indicative of the male sex. The remainder of prenatal labs were unremarkable. Mother declined amniocentesis due to risks associated with the procedure. She presented to labor and delivery triage reporting decreased fetal movement, and ultrasound revealed small bilateral pleural effusions and ascites, indicative of new-onset fetal hydrops, prompting an urgent cesarean section. On admission, the patient was noted to have excess nuchal skin, retrognathia, and hepatomegaly, but normal male external genitalia with normal penile length and bilaterally descended testes was seen. He developed worsening respiratory distress after delivery ultimately requiring intubation and mechanical ventilation. Early postnatal course was complicated by prolonged bleeding after umbilical line placement, metabolic acidosis, and hypoglycemia. The patient was transferred to a Level IV NICU for further management due to escalating needs of care. TORCH infectious workup was obtained on admission to search for the etiology of hydrops, and cord blood was sent for chromosomal microarray. Infectious workup was inconclusive. Brain imaging revealed vein of Galen malformation, frontoparietal acute infarct, ischemic changes in periventricular white matter, small subdural hemorrhage, and left-sided grade 1 intraventricular hemorrhage. Chromosomal microarray revealed both trisomy 21 mosaicism and X/ XY sex chromosome mosaicism with one cell line demonstrating trisomy 21/ male XY sex chromosome, and the second cell line with 2 copies of chromosome 21/monosomy X. In chromosomal mosaicism, the phenotype displayed in a patient depends on the cell line ratios in specific tissues. This case describes a patient whose clinically absent Turner Syndrome mosaicism (phenotypic male) was detected by the cfDNA screening, but their clinically relevant trisomy 21 mosaicism (excess nuchal skin, retrognathia, thrombocytopenia, congenital hypothyroidism) was not detected. This case highlights the limitations of cfDNA screening in detecting mosaicism and emphasizes the importance of correlating results with clinical findings.
{"title":"A case of Mosaic Trisomy 21 and Mosaic Turner Syndrome in a premature infant","authors":"E Oubre, VH Aguilar, MG Johnson","doi":"10.1016/j.amjms.2025.12.058","DOIUrl":"10.1016/j.amjms.2025.12.058","url":null,"abstract":"<div><h3>Case Report</h3><div>The American College of Obstetricians and Gynecologists recommend offering cell-free DNA (cfDNA) screening as a first tier, first-line option for all pregnant women to screen for chromosomal aneuploidies, sex chromosome abnormalities, and microdeletions in a developing fetus. However, there are limitations of cfDNA in cases of tissue-specific mosaicism that can lead to both false positives and false negatives. We present a case of a male infant born at 36+5 weeks gestation via urgent cesarean section to a 28-year-old G3P2002 female. Prenatal testing included cfDNA obtained at 11 weeks’ gestation with findings suggestive of 45, X chromosome aneuploidy, otherwise known as Turner Syndrome. However, the testing also identified the presence of a Y chromosome, indicative of the male sex. The remainder of prenatal labs were unremarkable. Mother declined amniocentesis due to risks associated with the procedure. She presented to labor and delivery triage reporting decreased fetal movement, and ultrasound revealed small bilateral pleural effusions and ascites, indicative of new-onset fetal hydrops, prompting an urgent cesarean section. On admission, the patient was noted to have excess nuchal skin, retrognathia, and hepatomegaly, but normal male external genitalia with normal penile length and bilaterally descended testes was seen. He developed worsening respiratory distress after delivery ultimately requiring intubation and mechanical ventilation. Early postnatal course was complicated by prolonged bleeding after umbilical line placement, metabolic acidosis, and hypoglycemia. The patient was transferred to a Level IV NICU for further management due to escalating needs of care. TORCH infectious workup was obtained on admission to search for the etiology of hydrops, and cord blood was sent for chromosomal microarray. Infectious workup was inconclusive. Brain imaging revealed vein of Galen malformation, frontoparietal acute infarct, ischemic changes in periventricular white matter, small subdural hemorrhage, and left-sided grade 1 intraventricular hemorrhage. Chromosomal microarray revealed both trisomy 21 mosaicism and X/ XY sex chromosome mosaicism with one cell line demonstrating trisomy 21/ male XY sex chromosome, and the second cell line with 2 copies of chromosome 21/monosomy X. In chromosomal mosaicism, the phenotype displayed in a patient depends on the cell line ratios in specific tissues. This case describes a patient whose clinically absent Turner Syndrome mosaicism (phenotypic male) was detected by the cfDNA screening, but their clinically relevant trisomy 21 mosaicism (excess nuchal skin, retrognathia, thrombocytopenia, congenital hypothyroidism) was not detected. This case highlights the limitations of cfDNA screening in detecting mosaicism and emphasizes the importance of correlating results with clinical findings.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S33"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175263","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.2025.12.080
S Busch , L Yarbrough , J Filipek
<div><h3>Case Report</h3><div>A 6-year-old boy with no past medical history presented to the emergency department (ED) for a one-week history of intermittent fevers, fatigue, nocturnal sweating, 6-pound weight loss, nausea, vomiting, and epistaxis. At a primary care appointment days prior to ED presentation, he was found to have tender, mobile, soft lymphadenopathy in the bilateral cervical chain and inguinal areas as well as lab work showing significant pancytopenia, elevated lactate dehydrogenase, and transaminitis, with normal bilirubin and uric acid levels.</div><div>In the ED, a respiratory viral panel and blood culture were negative. CT imaging displayed diffuse lymphadenopathy and mild hepatomegaly. His family denied any sick contacts, rash, rhinorrhea, abdominal pain, joint pain, diarrhea, and tick or insect bites. He was up to date on all vaccinations. He had recent exposure to farm animals, but no raw meat or unpasteurized dairy consumption. At this point, the team's differential diagnosis was an acute infectious process vs lymphoma.</div><div>He was admitted for a lymph node biopsy and further infectious workup. Testing for HIV, tuberculosis, hepatitis B and C, syphilis, pertussis, mycoplasma, and chlamydia pneumonia were all negative, and cytomegalovirus and Ebstein-Barr virus antibodies were consistent with previous infections. He improved over the course of a 4-day admission without antibiotics and was discharged home with outpatient infectious disease clinic follow-up on pending labs including tularemia, bartonella, histoplasmosis, blastomycosis, parvovirus, adenovirus, alpha fetoprotein stain and culture, peripheral blood smear, and lymph node biopsy stain and culture.</div><div>Weeks later, all infectious labs returned negative. His lymph node biopsy was not concerning for malignancy; however, on day 3 of culture, gram-negative urease-positive rods were isolated. These organisms were unable to be identified by both the hospital and state health department labs, so the specimen was sent to the Centers for Disease Control for further speciation.</div><div>In the meantime, the patient continued to be symptomatic. He returned to an infectious disease appointment 14 days after discharge, and the decision was made to collect brucella and toxoplasmosis labs. Family also shared at this appointment that they consumed wild boar prior to symptom onset. His brucella titer returned 1:460 (>1:60 in an endemic area is associated with a positive infection), so he was treated for presumed brucellosis with trimethoprim-sulfamethoxazole and rifampin for 6 weeks (Hayoun et al, 2025). Over a month after discharge, the CDC identified the organism as <em>Brucella suis</em>. The presumed source was ingestion of wild boar. At follow up appointments, all symptoms had resolved.</div><div>This case report highlights the importance of maintaining a clinical suspicion for infectious etiologies especially in endemic areas with known exposures, as infections
病例报告：一名无既往病史的6岁男孩因间歇性发热、疲劳、夜间出汗、体重减轻6磅、恶心、呕吐和鼻出血而就诊于急诊科。在ED出现前几天的一次初级保健就诊中，发现患者在双侧颈链和腹股沟区域有压痛、可移动、柔软的淋巴结病变，实验室检查显示明显的全血细胞减少症、乳酸脱氢酶升高和转氨炎，胆红素和尿酸水平正常。急诊科，呼吸道病毒检测和血培养呈阴性。CT表现为弥漫性淋巴结病变及轻度肝肿大。他的家人否认有任何患病接触、皮疹、鼻漏、腹痛、关节痛、腹泻以及蜱虫或昆虫叮咬。他及时接种了所有疫苗。他最近接触过农场动物，但没有生肉或未经巴氏消毒的奶制品。在这一点上，该团队的鉴别诊断是急性感染过程与淋巴瘤。他接受了淋巴结活检和进一步的感染检查。艾滋病毒、结核病、乙型和丙型肝炎、梅毒、百日咳、支原体和肺炎衣原体检测均为阴性，巨细胞病毒和eb病毒抗体与既往感染一致。入院4天无抗生素治疗后病情好转，出院时进行了传染病门诊随访，包括土拉菌病、巴尔通体病、组织浆菌病、芽生菌病、细小病毒、腺病毒、甲胎蛋白染色和培养、外周血涂片和淋巴结活检染色和培养。几周后，所有的感染性化验结果都呈阴性。他的淋巴结活检未发现恶性肿瘤；然而，培养第3天分离出革兰氏阴性脲酶阳性棒。这些微生物无法被医院和州卫生部门的实验室识别，所以样本被送到疾病控制中心进行进一步的物种形成。在此期间，患者持续出现症状。出院后14天，他回到传染病门诊，并决定收集布鲁氏菌和弓形虫病实验室。家人也在这次约会中分享，他们在症状发作前吃了野猪。他的布鲁氏菌滴度恢复到1:60（在流行地区1:60与阳性感染有关），因此他因疑似布鲁氏菌病接受了甲氧苄啶-磺胺甲恶唑和利福平治疗6周（Hayoun et al, 2025）。出院一个多月后，美国疾病控制与预防中心确认该细菌为猪布鲁氏菌。推测的来源是误食野猪。在随访中，所有症状都得到了缓解。本病例报告强调了对感染病因保持临床怀疑的重要性，特别是在已知暴露的流行地区，因为布鲁氏菌病等感染可能出现与恶性过程类似的症状。
{"title":"Infection vs malignancy: brucellosis in a pediatric patient","authors":"S Busch , L Yarbrough , J Filipek","doi":"10.1016/j.amjms.2025.12.080","DOIUrl":"10.1016/j.amjms.2025.12.080","url":null,"abstract":"<div><h3>Case Report</h3><div>A 6-year-old boy with no past medical history presented to the emergency department (ED) for a one-week history of intermittent fevers, fatigue, nocturnal sweating, 6-pound weight loss, nausea, vomiting, and epistaxis. At a primary care appointment days prior to ED presentation, he was found to have tender, mobile, soft lymphadenopathy in the bilateral cervical chain and inguinal areas as well as lab work showing significant pancytopenia, elevated lactate dehydrogenase, and transaminitis, with normal bilirubin and uric acid levels.</div><div>In the ED, a respiratory viral panel and blood culture were negative. CT imaging displayed diffuse lymphadenopathy and mild hepatomegaly. His family denied any sick contacts, rash, rhinorrhea, abdominal pain, joint pain, diarrhea, and tick or insect bites. He was up to date on all vaccinations. He had recent exposure to farm animals, but no raw meat or unpasteurized dairy consumption. At this point, the team's differential diagnosis was an acute infectious process vs lymphoma.</div><div>He was admitted for a lymph node biopsy and further infectious workup. Testing for HIV, tuberculosis, hepatitis B and C, syphilis, pertussis, mycoplasma, and chlamydia pneumonia were all negative, and cytomegalovirus and Ebstein-Barr virus antibodies were consistent with previous infections. He improved over the course of a 4-day admission without antibiotics and was discharged home with outpatient infectious disease clinic follow-up on pending labs including tularemia, bartonella, histoplasmosis, blastomycosis, parvovirus, adenovirus, alpha fetoprotein stain and culture, peripheral blood smear, and lymph node biopsy stain and culture.</div><div>Weeks later, all infectious labs returned negative. His lymph node biopsy was not concerning for malignancy; however, on day 3 of culture, gram-negative urease-positive rods were isolated. These organisms were unable to be identified by both the hospital and state health department labs, so the specimen was sent to the Centers for Disease Control for further speciation.</div><div>In the meantime, the patient continued to be symptomatic. He returned to an infectious disease appointment 14 days after discharge, and the decision was made to collect brucella and toxoplasmosis labs. Family also shared at this appointment that they consumed wild boar prior to symptom onset. His brucella titer returned 1:460 (>1:60 in an endemic area is associated with a positive infection), so he was treated for presumed brucellosis with trimethoprim-sulfamethoxazole and rifampin for 6 weeks (Hayoun et al, 2025). Over a month after discharge, the CDC identified the organism as <em>Brucella suis</em>. The presumed source was ingestion of wild boar. At follow up appointments, all symptoms had resolved.</div><div>This case report highlights the importance of maintaining a clinical suspicion for infectious etiologies especially in endemic areas with known exposures, as infections","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S47-S48"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175462","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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