Pub Date : 2025-01-01DOI: 10.1016/j.aace.2024.10.007
Maria Iriarte-Durán MD , Jose Teleche-Loaiza MD , Alberto Rosero-Guerrero MD , Edgar Folleco-Pazmiño MD , Andrés García-Trujillo MD , Guillermo Guzmán-Gómez MD
Background/Objective
Evidence on the efficacy and safety of minimally invasive treatment for insulinoma has increased over the past decade to the point of becoming a recommendation in clinical practice guidelines for the management of this type of neuroendocrine tumor.
Case Report
We describe the case of an elderly male patient with multiple comorbidities and recurrent isolated insulinoma of 3.7 × 3.5 cm involving the uncinate process of the pancreas and contacting the splenomesenteric confluent many years after first resection, in whom, after refusing surgical management, was performed as successful arterial embolization of the pancreatic tumor.
Discussion
When addressing this pathology, it is common to encounter patients who are not candidates for surgical management, either due to the presence of comorbidities, the location of the tumor in relation to vascular structures, or refusal of the intervention. Therefore, it is important to be aware of the different therapeutic options in localized and metastatic disease.
Conclusion
Minimally invasive procedures are positioned as an effective alternative for the treatment of the hormonal overproduction in patients with insulinoma.
{"title":"Successful Treatment of Benign Insulinoma by Transcatheter Angioembolization","authors":"Maria Iriarte-Durán MD , Jose Teleche-Loaiza MD , Alberto Rosero-Guerrero MD , Edgar Folleco-Pazmiño MD , Andrés García-Trujillo MD , Guillermo Guzmán-Gómez MD","doi":"10.1016/j.aace.2024.10.007","DOIUrl":"10.1016/j.aace.2024.10.007","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Evidence on the efficacy and safety of minimally invasive treatment for insulinoma has increased over the past decade to the point of becoming a recommendation in clinical practice guidelines for the management of this type of neuroendocrine tumor.</div></div><div><h3>Case Report</h3><div>We describe the case of an elderly male patient with multiple comorbidities and recurrent isolated insulinoma of 3.7 × 3.5 cm involving the uncinate process of the pancreas and contacting the splenomesenteric confluent many years after first resection, in whom, after refusing surgical management, was performed as successful arterial embolization of the pancreatic tumor.</div></div><div><h3>Discussion</h3><div>When addressing this pathology, it is common to encounter patients who are not candidates for surgical management, either due to the presence of comorbidities, the location of the tumor in relation to vascular structures, or refusal of the intervention. Therefore, it is important to be aware of the different therapeutic options in localized and metastatic disease.</div></div><div><h3>Conclusion</h3><div>Minimally invasive procedures are positioned as an effective alternative for the treatment of the hormonal overproduction in patients with insulinoma.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 62-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.aace.2024.09.006
Beatrice A. Brumley MD , Run Yu MD, PhD , Shadfar Bahri MD , Jane Rhyu MD
Background/Objective
Cranial metastases rarely occur in malignant paragangliomas (PGLs) or pheochromocytomas, which usually metastasize to the liver, bone, lungs, and lymph nodes. Early detection and intervention with a multidisciplinary approach are crucial given the critical location.
Case Report
Our patient was a 31-year-old man diagnosed with periaortic PGL and succinate dehydrogenase subunit B pathogenic variant at the age of 9 years with cardiac arrest. He developed intra-abdominal and skeletal metastatic disease by the age of 14 years and treated with surgery, chemotherapy, and radiation. After being lost to follow-up, the patient presented emergently with headache, palpitations, hypertensive crisis, type 2 non-ST-elevation myocardial infarction, and catecholamine-induced cardiomyopathy, with plasma free metanephrine level of 61.0 pg/mL (0.0-88.0 pg/mL) and elevated serum free normetanephrine level of 662.9 pg/mL (0.0-210.1 pg/mL). Imaging showed a right frontal calvarial lesion, with 4.9-cm intracranial dural and 4.9-cm extracranial components, and a 1.5-cm occipital bone lesion. Following adrenergic blockade, the patient underwent resection of the frontal lesion with pathology showing metastatic PGL.
Discussion
A multidisciplinary team was consulted. Because of potential neurotoxicity, radiology advised against radiotherapy. Oncology advised monitoring. Seven months postoperatively, gallium-68 dodecane tetraacetic acid–octreotate positron emission tomography/computed tomography showed no recurrence at the surgical site, stable occipital lesion, and additional skeletal metastases. The patient is planned for peptide receptor radionuclide therapy.
Conclusion
Our case highlights the importance of active surveillance in PGL and pheochromocytoma to allow early intervention for metastatic disease and reviews the controversial management of rare calvarial or cerebral metastases, including peptide receptor radionuclide therapy.
{"title":"Malignant Paraganglioma With Calvarial Metastases Presenting With Recurrent Catecholamine-Induced Cardiomyopathy","authors":"Beatrice A. Brumley MD , Run Yu MD, PhD , Shadfar Bahri MD , Jane Rhyu MD","doi":"10.1016/j.aace.2024.09.006","DOIUrl":"10.1016/j.aace.2024.09.006","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Cranial metastases rarely occur in malignant paragangliomas (PGLs) or pheochromocytomas, which usually metastasize to the liver, bone, lungs, and lymph nodes. Early detection and intervention with a multidisciplinary approach are crucial given the critical location.</div></div><div><h3>Case Report</h3><div>Our patient was a 31-year-old man diagnosed with periaortic PGL and succinate dehydrogenase subunit B pathogenic variant at the age of 9 years with cardiac arrest. He developed intra-abdominal and skeletal metastatic disease by the age of 14 years and treated with surgery, chemotherapy, and radiation. After being lost to follow-up, the patient presented emergently with headache, palpitations, hypertensive crisis, type 2 non-ST-elevation myocardial infarction, and catecholamine-induced cardiomyopathy, with plasma free metanephrine level of 61.0 pg/mL (0.0-88.0 pg/mL) and elevated serum free normetanephrine level of 662.9 pg/mL (0.0-210.1 pg/mL). Imaging showed a right frontal calvarial lesion, with 4.9-cm intracranial dural and 4.9-cm extracranial components, and a 1.5-cm occipital bone lesion. Following adrenergic blockade, the patient underwent resection of the frontal lesion with pathology showing metastatic PGL.</div></div><div><h3>Discussion</h3><div>A multidisciplinary team was consulted. Because of potential neurotoxicity, radiology advised against radiotherapy. Oncology advised monitoring. Seven months postoperatively, gallium-68 dodecane tetraacetic acid–octreotate positron emission tomography/computed tomography showed no recurrence at the surgical site, stable occipital lesion, and additional skeletal metastases. The patient is planned for peptide receptor radionuclide therapy.</div></div><div><h3>Conclusion</h3><div>Our case highlights the importance of active surveillance in PGL and pheochromocytoma to allow early intervention for metastatic disease and reviews the controversial management of rare calvarial or cerebral metastases, including peptide receptor radionuclide therapy.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 24-28"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.
Case Report
A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily. Initial studies showed total cholesterol of 278 mg/dL and high-density lipoprotein of 38 mg/dL. Physical examination was negative for hepatosplenomegaly and xanthoma, with no reported history of acute pancreatitis. Despite treatment escalation with gemfibrozil, fenofibrate, and icosapent ethyl, her triglyceride levels remained elevated, peaking at 4300 mg/dL. Seven years after presentation, genetic testing revealed homozygosity for c.11delC of the apolipoprotein A5 gene, confirming the diagnosis of familial chylomicronemia syndrome. Postdiagnosis, the patient adhered to a strict low-fat diet with daily fat intake of less than 15-20 g, limited simple sugars, refined carbohydrates, and alcohol, leading to a nadir of serum triglycerides of 197 mg/dL.
Discussion
The identified mutation is exceedingly rare (<0.01%), as most associated mutations involve the lipoprotein lipase gene. There are no approved therapies for genetic hypertriglyceridemia. The mainstay of treatment is a very low-fat diet to prevent complications.
Conclusion
We underscore the importance of genetic testing in refractory hypertriglyceridemia despite a lack of clinical signs. A definitive diagnosis can alleviate patient burden, improve therapeutic adherence, and enhance the patient-physician relationship.
{"title":"Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia","authors":"Panagiotis Theodoropoulos MD , Nina Maria Fanaropoulou MD, MSc , Anastasios Manessis MD","doi":"10.1016/j.aace.2024.08.006","DOIUrl":"10.1016/j.aace.2024.08.006","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.</div></div><div><h3>Case Report</h3><div>A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily. Initial studies showed total cholesterol of 278 mg/dL and high-density lipoprotein of 38 mg/dL. Physical examination was negative for hepatosplenomegaly and xanthoma, with no reported history of acute pancreatitis. Despite treatment escalation with gemfibrozil, fenofibrate, and icosapent ethyl, her triglyceride levels remained elevated, peaking at 4300 mg/dL. Seven years after presentation, genetic testing revealed homozygosity for c.11delC of the apolipoprotein A5 gene, confirming the diagnosis of familial chylomicronemia syndrome. Postdiagnosis, the patient adhered to a strict low-fat diet with daily fat intake of less than 15-20 g, limited simple sugars, refined carbohydrates, and alcohol, leading to a nadir of serum triglycerides of 197 mg/dL.</div></div><div><h3>Discussion</h3><div>The identified mutation is exceedingly rare (<0.01%), as most associated mutations involve the lipoprotein lipase gene. There are no approved therapies for genetic hypertriglyceridemia. The mainstay of treatment is a very low-fat diet to prevent complications.</div></div><div><h3>Conclusion</h3><div>We underscore the importance of genetic testing in refractory hypertriglyceridemia despite a lack of clinical signs. A definitive diagnosis can alleviate patient burden, improve therapeutic adherence, and enhance the patient-physician relationship.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 240-243"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1016/j.aace.2024.07.008
Emily D. Szmuilowicz MD, MS , Ellen Fruzyna BS , Nigel Madden MD , Janelle R. Bolden MD , Anne Kozek RD , Erika Vucko APRN-NP, FNP , Cybele Ghossein MD , Grant Barish MD
Background/Objective
Fanconi–Bickel Syndrome (FBS) is an inherited disorder of glucose metabolism resulting from functional loss of glucose transporter 2 characterized by fasting hypoglycemia oscillating with postprandial hyperglycemia. Dysglycemia treatment strategies during FBS pregnancy have not been reported, and insulin therapy carries significant risk due to fasting hypoglycemia in FBS. We report for the first time: (1) glycemic profiles obtained via continuous glucose monitoring (CGM), (2) CGM-guided strategies for cornstarch and nutritional therapy for fasting hypoglycemia and postprandial hyperglycemia, respectively, and (3) placental glucose transporter 2 isoform expression in a pregnant individual with FBS.
Case Report
A 27-year-old woman with FBS presented at 6 weeks gestation for management of fasting hypoglycemia and postprandial hyperglycemia. Cornstarch therapy for fasting hypoglycemia and nutritional therapy for postprandial hyperglycemia were iteratively adjusted across gestation based on CGM-derived glycemic patterns. Pregnancy-specific glycemic targets were successfully achieved, and she delivered a healthy term infant. Glucose transporter 2 isoform was not detected in placental tissue.
Discussion
We report for the first time glycemic patterns across gestation in a pregnant individual with FBS. Glycemic targets were achieved through stepwise optimization of nutritional and cornstarch therapy, both guided by CGM data. Our approach obviated the need for insulin therapy, which carries amplified risk in FBS.
Conclusion
Fasting hypoglycemia and postprandial hyperglycemia can be effectively treated through CGM-guided adjustment of both nutritional and glucose polymer therapies in FBS pregnancy. More broadly, our case highlights a novel application for CGM in the management of uncommon glucose metabolism disorders during pregnancy.
{"title":"Management of Dysglycemia in a Pregnancy Complicated by Fanconi–Bickel Syndrome","authors":"Emily D. Szmuilowicz MD, MS , Ellen Fruzyna BS , Nigel Madden MD , Janelle R. Bolden MD , Anne Kozek RD , Erika Vucko APRN-NP, FNP , Cybele Ghossein MD , Grant Barish MD","doi":"10.1016/j.aace.2024.07.008","DOIUrl":"10.1016/j.aace.2024.07.008","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Fanconi–Bickel Syndrome (FBS) is an inherited disorder of glucose metabolism resulting from functional loss of glucose transporter 2 characterized by fasting hypoglycemia oscillating with postprandial hyperglycemia. Dysglycemia treatment strategies during FBS pregnancy have not been reported, and insulin therapy carries significant risk due to fasting hypoglycemia in FBS. We report for the first time: (1) glycemic profiles obtained via continuous glucose monitoring (CGM), (2) CGM-guided strategies for cornstarch and nutritional therapy for fasting hypoglycemia and postprandial hyperglycemia, respectively, and (3) placental glucose transporter 2 isoform expression in a pregnant individual with FBS.</div></div><div><h3>Case Report</h3><div>A 27-year-old woman with FBS presented at 6 weeks gestation for management of fasting hypoglycemia and postprandial hyperglycemia. Cornstarch therapy for fasting hypoglycemia and nutritional therapy for postprandial hyperglycemia were iteratively adjusted across gestation based on CGM-derived glycemic patterns. Pregnancy-specific glycemic targets were successfully achieved, and she delivered a healthy term infant. Glucose transporter 2 isoform was not detected in placental tissue.</div></div><div><h3>Discussion</h3><div>We report for the first time glycemic patterns across gestation in a pregnant individual with FBS. Glycemic targets were achieved through stepwise optimization of nutritional and cornstarch therapy, both guided by CGM data. Our approach obviated the need for insulin therapy, which carries amplified risk in FBS.</div></div><div><h3>Conclusion</h3><div>Fasting hypoglycemia and postprandial hyperglycemia can be effectively treated through CGM-guided adjustment of both nutritional and glucose polymer therapies in FBS pregnancy. More broadly, our case highlights a novel application for CGM in the management of uncommon glucose metabolism disorders during pregnancy.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 224-228"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141842614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Iodine deficiency hypothyroidism is an important cause of neurocognitive and motor impairment in children globally. In the United States, universal salt iodization, which began in the 1920s, led to a dramatic decline in iodine deficiency hypothyroidism. However, iodine deficiency may be reemerging due to increased consumption of noniodized salts, decreased dairy iodine concentrations, and decreased intake of iodine containing foods due to food allergies, dietary preferences such as vegan diets, or restrictive food intake disorders.
Case Report
We present a case series that challenges the existing clinical paradigm for hypothyroidism and describe 3 patients without underlying thyroid dysfunction who were diagnosed with iodine deficiency hypothyroidism over an 18-month period beginning in February 2021 in Northeastern United States. Prior studies reported 2 additional cases diagnosed in that same time frame at our clinical center.
Discussion
We report significant heterogeneity in clinical presentation: 3 patients had large goiters, 1 had a mild goiter, and 1 patient had no goiter. Biochemical tests were also variable and included a wide range of thyroid stimulating hormone elevations.
Conclusion
We suggest that a spot urine iodine concentration, combined with an elevated serum thyroglobulin level, can be an alternative to a 24-hour urinary iodine excretion for the diagnosis of iodine deficiency hypothyroidism given the clinical challenges of obtaining the latter. Thyroid function normalized in all patients with iodine supplementation.
{"title":"Iodine Deficiency Hypothyroidism Among Children in the United States - 21st Century Resurgence?","authors":"Sujatha Seetharaman MD, MPH , Sabitha Sasidharan Pillai MD , Avani Ganta MD , Kate Millington MD , Jose Bernardo Quintos MD , Lisa Swartz Topor MD, MMSc , Monica Serrano-Gonzalez MD","doi":"10.1016/j.aace.2024.08.003","DOIUrl":"10.1016/j.aace.2024.08.003","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Iodine deficiency hypothyroidism is an important cause of neurocognitive and motor impairment in children globally. In the United States, universal salt iodization, which began in the 1920s, led to a dramatic decline in iodine deficiency hypothyroidism. However, iodine deficiency may be reemerging due to increased consumption of noniodized salts, decreased dairy iodine concentrations, and decreased intake of iodine containing foods due to food allergies, dietary preferences such as vegan diets, or restrictive food intake disorders.</div></div><div><h3>Case Report</h3><div>We present a case series that challenges the existing clinical paradigm for hypothyroidism and describe 3 patients without underlying thyroid dysfunction who were diagnosed with iodine deficiency hypothyroidism over an 18-month period beginning in February 2021 in Northeastern United States. Prior studies reported 2 additional cases diagnosed in that same time frame at our clinical center.</div></div><div><h3>Discussion</h3><div>We report significant heterogeneity in clinical presentation: 3 patients had large goiters, 1 had a mild goiter, and 1 patient had no goiter. Biochemical tests were also variable and included a wide range of thyroid stimulating hormone elevations.</div></div><div><h3>Conclusion</h3><div>We suggest that a spot urine iodine concentration, combined with an elevated serum thyroglobulin level, can be an alternative to a 24-hour urinary iodine excretion for the diagnosis of iodine deficiency hypothyroidism given the clinical challenges of obtaining the latter. Thyroid function normalized in all patients with iodine supplementation.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 236-239"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1016/j.aace.2024.08.010
Nishant Kumar DO, MS , Mihail Zilbermint MD, MBA, FACE
Background/Objective
Calcium channel blockers, when taken in overdose quantities, can cause hyperglycemia requiring so-called hyperinsulinemic-euglycemic therapy. The objective of this report was to describe a patient with calcium channel blocker toxicity resulting from overdose of amlodipine.
Case Report
A 74-year-old man presented with a fall and loss of consciousness. Prior to this event, he consumed 88 tablets of amlodipine. Medical history was significant for hypertension, hyperlipidemia, and cerebrovascular accident. His vital signs were heart rate of 51 beats/min, blood pressure of 162/137 mm Hg, oxygen saturation of 94% on room air, and respiratory rate of 16 breaths/min. The patient soon became hypotensive. The blood glucose level was 227 mg/dL. Urinalysis was negative for ketones. The patient was diagnosed with calcium channel blocker toxicity and admitted to the intensive care unit. He received continuous insulin infusion and dextrose 25% in water for 5 and 7 days respectively, with a peak insulin infusion rate of 850 U/h. After discontinuation of medications, the glucose level, blood pressure, and heart rate were 82 mg/dL, 127/68 mm Hg, and 86 beats/min, respectively, and he returned to prior functional status.
Discussion
Amlodipine is a long-acting dihydropyridine class calcium channel blocking drug. In the overdose setting, amlodipine inhibits calcium uptake by myocytes and release of insulin from pancreatic beta cells.
Conclusion
In this case, high-dose insulin euglycemic therapy was effective in the treatment of amlodipine overdose and should be considered in similar cases.
背景/目的：过量服用钙通道阻滞剂可引起高血糖，需要所谓的高胰岛素-降糖治疗。本报告的目的是描述一个病人钙通道阻滞剂毒性导致过量氨氯地平。病例报告：一名74岁男性，表现为跌倒和意识丧失。在此之前，他服用了88片氨氯地平。有高血压、高脂血症及脑血管意外病史。生命体征：心率51次/分，血压162/137毫米汞柱，室内空气氧饱和度94%，呼吸频率16次/分。病人很快出现低血压。血糖227毫克/分升。尿检酮类呈阴性。患者被诊断为钙通道阻滞剂毒性，并住进重症监护室。连续输注胰岛素和25%水葡萄糖，分别5天和7天，胰岛素输注速率峰值为850 U/h。停药后，血糖、血压和心率分别为82 mg/dL、127/68 mm Hg和86次/分，恢复到之前的功能状态。讨论：氨氯地平是一种长效二氢吡啶类钙通道阻断药物。在过量的情况下，氨氯地平抑制心肌细胞对钙的摄取和胰腺β细胞对胰岛素的释放。结论：本病例采用高剂量胰岛素正糖治疗氨氯地平过量是有效的，在类似病例中应予以考虑。
{"title":"Development of Nonketotic Hyperglycemia Requiring High-Dose Insulin After Supratherapeutic Amlodipine Ingestion","authors":"Nishant Kumar DO, MS , Mihail Zilbermint MD, MBA, FACE","doi":"10.1016/j.aace.2024.08.010","DOIUrl":"10.1016/j.aace.2024.08.010","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Calcium channel blockers, when taken in overdose quantities, can cause hyperglycemia requiring so-called hyperinsulinemic-euglycemic therapy. The objective of this report was to describe a patient with calcium channel blocker toxicity resulting from overdose of amlodipine.</div></div><div><h3>Case Report</h3><div>A 74-year-old man presented with a fall and loss of consciousness. Prior to this event, he consumed 88 tablets of amlodipine. Medical history was significant for hypertension, hyperlipidemia, and cerebrovascular accident. His vital signs were heart rate of 51 beats/min, blood pressure of 162/137 mm Hg, oxygen saturation of 94% on room air, and respiratory rate of 16 breaths/min. The patient soon became hypotensive. The blood glucose level was 227 mg/dL. Urinalysis was negative for ketones. The patient was diagnosed with calcium channel blocker toxicity and admitted to the intensive care unit. He received continuous insulin infusion and dextrose 25% in water for 5 and 7 days respectively, with a peak insulin infusion rate of 850 U/h. After discontinuation of medications, the glucose level, blood pressure, and heart rate were 82 mg/dL, 127/68 mm Hg, and 86 beats/min, respectively, and he returned to prior functional status.</div></div><div><h3>Discussion</h3><div>Amlodipine is a long-acting dihydropyridine class calcium channel blocking drug. In the overdose setting, amlodipine inhibits calcium uptake by myocytes and release of insulin from pancreatic beta cells.</div></div><div><h3>Conclusion</h3><div>In this case, high-dose insulin euglycemic therapy was effective in the treatment of amlodipine overdose and should be considered in similar cases.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 257-260"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1016/j.aace.2024.08.002
Karissa Aldrete MD , Leena Shahla MD
Background/Objective
Pulmonary carcinoid tumors are a rare cause of Cushing’s syndrome and usually present with an indolent course. Here, we present a case of rapid onset and severe Cushing’s syndrome due to a typical pulmonary carcinoid tumor.
Case Report
A 32-year-old woman developed diabetes, hypertension, and weight gain of 50 pounds over 3 months. Laboratory evaluation was significant for elevated cortisol and adrenocorticotropic hormone levels and levels were nonsuppressible on low and high-dose dexamethasone suppression tests. Chest computed tomography revealed a pulmonary nodule and biopsy showed a typical carcinoid tumor. She was treated with steroidogenesis inhibitors with a plan for surgical excision but developed worsening complications of hypercortisolemia. She eventually underwent cryoablation of the tumor, but unfortunately passed away just 6 months after her initial presentation.
Discussion
Cushing’s syndrome in typical pulmonary carcinoid tumors is rarely seen and usually presents with mild hypercortisolism similar to Cushing’s disease. Severe hypercortisolemia from typical pulmonary carcinoid tumors can represent a more aggressive pathology or metastatic disease. Severe Cushing’s syndrome is associated with significant morbidity and mortality and requires rapid tumor localization as surgical resection can be curative.
Conclusion
This case highlights a rare presentation of severe Cushing’s syndrome due to a typical pulmonary carcinoid.
{"title":"Severe Ectopic Adrenocorticotropic Hormone Syndrome Due to Pulmonary Carcinoid Tumor: A Case Report and Literature Review","authors":"Karissa Aldrete MD , Leena Shahla MD","doi":"10.1016/j.aace.2024.08.002","DOIUrl":"10.1016/j.aace.2024.08.002","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Pulmonary carcinoid tumors are a rare cause of Cushing’s syndrome and usually present with an indolent course. Here, we present a case of rapid onset and severe Cushing’s syndrome due to a typical pulmonary carcinoid tumor.</div></div><div><h3>Case Report</h3><div>A 32-year-old woman developed diabetes, hypertension, and weight gain of 50 pounds over 3 months. Laboratory evaluation was significant for elevated cortisol and adrenocorticotropic hormone levels and levels were nonsuppressible on low and high-dose dexamethasone suppression tests. Chest computed tomography revealed a pulmonary nodule and biopsy showed a typical carcinoid tumor. She was treated with steroidogenesis inhibitors with a plan for surgical excision but developed worsening complications of hypercortisolemia. She eventually underwent cryoablation of the tumor, but unfortunately passed away just 6 months after her initial presentation.</div></div><div><h3>Discussion</h3><div>Cushing’s syndrome in typical pulmonary carcinoid tumors is rarely seen and usually presents with mild hypercortisolism similar to Cushing’s disease. Severe hypercortisolemia from typical pulmonary carcinoid tumors can represent a more aggressive pathology or metastatic disease. Severe Cushing’s syndrome is associated with significant morbidity and mortality and requires rapid tumor localization as surgical resection can be curative.</div></div><div><h3>Conclusion</h3><div>This case highlights a rare presentation of severe Cushing’s syndrome due to a typical pulmonary carcinoid.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 232-235"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1016/j.aace.2024.08.001
Bright Nwatamole MBBS , Sumana Kundu MBBS , God-dowell O. Odukudu MD , Prava Basnet MBBS , Lubna Mirza MD, FACE
Background/Objective
4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome. Other endocrine abnormalities are short stature and growth hormone deficiency.
Case Report
We present a 19-year-old female with 4H syndrome due to POLR3B gene mutations who presented with primary amenorrhea. She was referred to our endocrinology clinic by her primary care physician. She was diagnosed with 4H syndrome at age 15 by her pediatrician when she initially presented with primary amenorrhea, ataxia, and tremors and underwent karyotyping and confirmatory genetic tests. However, she received no endocrine care before coming to our clinic at 19. Neurologic exam revealed slight tremors in outstretched hands. A brain MRI study revealed no intracranial abnormalities. We subsequently placed her on Loestrin birth control, an estrogen/progestin combination contraceptive, and she begun having her menstrual periods.
Discussion
The prevalence of POLR3-related leukodystrophy is currently unknown. It can appear during childhood or later in life. Early onset increases the risk of mortality in young adulthood. Endocrine care entails hormone replacement therapy and monitoring for dysfunction over time.
Conclusion
Early diagnosis of hypogonadotropic hypogonadism in women, with or without other hormonal deficiencies caused by 4H syndrome, is crucial for effective treatment. Treatment should be multidisciplinary and aimed mainly at correcting low estrogen levels.
{"title":"Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome","authors":"Bright Nwatamole MBBS , Sumana Kundu MBBS , God-dowell O. Odukudu MD , Prava Basnet MBBS , Lubna Mirza MD, FACE","doi":"10.1016/j.aace.2024.08.001","DOIUrl":"10.1016/j.aace.2024.08.001","url":null,"abstract":"<div><h3>Background/Objective</h3><div>4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome. Other endocrine abnormalities are short stature and growth hormone deficiency.</div></div><div><h3>Case Report</h3><div>We present a 19-year-old female with 4H syndrome due to POLR3B gene mutations who presented with primary amenorrhea. She was referred to our endocrinology clinic by her primary care physician. She was diagnosed with 4H syndrome at age 15 by her pediatrician when she initially presented with primary amenorrhea, ataxia, and tremors and underwent karyotyping and confirmatory genetic tests. However, she received no endocrine care before coming to our clinic at 19. Neurologic exam revealed slight tremors in outstretched hands. A brain MRI study revealed no intracranial abnormalities. We subsequently placed her on Loestrin birth control, an estrogen/progestin combination contraceptive, and she begun having her menstrual periods.</div></div><div><h3>Discussion</h3><div>The prevalence of POLR3-related leukodystrophy is currently unknown. It can appear during childhood or later in life. Early onset increases the risk of mortality in young adulthood. Endocrine care entails hormone replacement therapy and monitoring for dysfunction over time.</div></div><div><h3>Conclusion</h3><div>Early diagnosis of hypogonadotropic hypogonadism in women, with or without other hormonal deficiencies caused by 4H syndrome, is crucial for effective treatment. Treatment should be multidisciplinary and aimed mainly at correcting low estrogen levels.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 229-231"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1016/j.aace.2024.08.004
Samir S.E. Ahmed MBBS, Mona Vahidi Rad MD, Sydney Westphal MD
{"title":"Panhypopituitarism Secondary to Pituitary Abscess","authors":"Samir S.E. Ahmed MBBS, Mona Vahidi Rad MD, Sydney Westphal MD","doi":"10.1016/j.aace.2024.08.004","DOIUrl":"10.1016/j.aace.2024.08.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 264-265"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1016/j.aace.2024.08.007
Samantha M. Siskind MD , Sakshi Yadav MBBS , Melinda Solomon MD , Philip E. Knapp MD, MS , Hanni Menn-Josephy MD , Jean Francis MD , Helmut G. Rennke MD , Rivka Ayalon MD , Katherine L. Modzelewski MD
Background/Objective
Medullary thyroid cancer often results in elevated calcitonin levels, which can cause localized formation of calcitonin amyloid, though rarely complications of systemic calcitonin amyloidosis have been reported. The objective of this report is to encourage awareness of calcitonin amyloid causing nephrotic syndrome in patients with metastatic medullary thyroid cancer.
Case Report
A 65-year-old woman with weakness, fatigue, anasarca, anemia, thrombocytopenia, venous and arterial thrombi, and a cavitary right lung lesion was transferred for care. She had a 14-year history of metastatic medullary thyroid cancer, status post-thyroidectomy and tyrosine kinase inhibitor therapy, adrenocorticotropic hormone-dependent Cushing syndrome in remission, and recently diagnosed nephrotic syndrome. On admission, she had lower extremity edema and scattered ecchymoses. Labs showed creatinine 0.62 mg/dL (0.7-1.3 mg/dL), morning cortisol >119.6 ug/dL (4-23 ug/dL), adrenocorticotropic hormone 426 pg/mL (6-50 pg/mL), 24-hour urine cortisol 6115.2 mcg/24 h (4-50 mcg/24 h), calcitonin 39 373 pg/mL (≤5 pg/mL), and carcinoembryonic antigen level 484.8 ng/mL (0-4.9 ng/mL). Kidney biopsy showed amyloidosis, which stained positive for calcitonin.
Discussion
Systemic calcitonin amyloidosis is not well-documented in medullary thyroid cancer. To our knowledge, there are 2 previous case reports describing nephrotic syndrome secondary to calcitonin amyloid in the setting of medullary thyroid cancer.
Conclusion
This case supports a small body of evidence that metastatic medullary thyroid cancer can result in systemic calcitonin amyloidosis and its complications, including nephrotic syndrome. Clinicians should consider nephrotic syndrome as a potential complication in patients with metastatic medullary thyroid cancer, particularly in those with long-standing calcitonin elevation and characteristic symptoms.
{"title":"Nephrotic Syndrome as a Complication of Systemic Calcitonin Amyloidosis From Long-Standing Metastatic Medullary Thyroid Cancer","authors":"Samantha M. Siskind MD , Sakshi Yadav MBBS , Melinda Solomon MD , Philip E. Knapp MD, MS , Hanni Menn-Josephy MD , Jean Francis MD , Helmut G. Rennke MD , Rivka Ayalon MD , Katherine L. Modzelewski MD","doi":"10.1016/j.aace.2024.08.007","DOIUrl":"10.1016/j.aace.2024.08.007","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Medullary thyroid cancer often results in elevated calcitonin levels, which can cause localized formation of calcitonin amyloid, though rarely complications of systemic calcitonin amyloidosis have been reported. The objective of this report is to encourage awareness of calcitonin amyloid causing nephrotic syndrome in patients with metastatic medullary thyroid cancer.</div></div><div><h3>Case Report</h3><div>A 65-year-old woman with weakness, fatigue, anasarca, anemia, thrombocytopenia, venous and arterial thrombi, and a cavitary right lung lesion was transferred for care. She had a 14-year history of metastatic medullary thyroid cancer, status post-thyroidectomy and tyrosine kinase inhibitor therapy, adrenocorticotropic hormone-dependent Cushing syndrome in remission, and recently diagnosed nephrotic syndrome. On admission, she had lower extremity edema and scattered ecchymoses. Labs showed creatinine 0.62 mg/dL (0.7-1.3 mg/dL), morning cortisol >119.6 ug/dL (4-23 ug/dL), adrenocorticotropic hormone 426 pg/mL (6-50 pg/mL), 24-hour urine cortisol 6115.2 mcg/24 h (4-50 mcg/24 h), calcitonin 39 373 pg/mL (≤5 pg/mL), and carcinoembryonic antigen level 484.8 ng/mL (0-4.9 ng/mL). Kidney biopsy showed amyloidosis, which stained positive for calcitonin.</div></div><div><h3>Discussion</h3><div>Systemic calcitonin amyloidosis is not well-documented in medullary thyroid cancer. To our knowledge, there are 2 previous case reports describing nephrotic syndrome secondary to calcitonin amyloid in the setting of medullary thyroid cancer.</div></div><div><h3>Conclusion</h3><div>This case supports a small body of evidence that metastatic medullary thyroid cancer can result in systemic calcitonin amyloidosis and its complications, including nephrotic syndrome. Clinicians should consider nephrotic syndrome as a potential complication in patients with metastatic medullary thyroid cancer, particularly in those with long-standing calcitonin elevation and characteristic symptoms.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 244-248"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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