AACE Clinical Case Reports最新文献

{"title":"Clinical Progression of a Paraganglioma Over Many Years in a Man With Congenital Heart Disease","authors":"Megan M. McConnell MD ,&nbsp;Maralee R. Kanin MD ,&nbsp;Martin S. Auerbach MD ,&nbsp;Run Yu MD, PhD","doi":"10.1016/j.aace.2023.09.003","DOIUrl":"10.1016/j.aace.2023.09.003","url":null,"abstract":"<div><h3>Background</h3><p>Documented symptomatic progression of a paraganglioma (PGL) over many years is unusual. Our objective is to report a young man with such an occurrence.</p></div><div><h3>Case Report</h3><p>A 27-year-old male presented with headache, sweating, and palpitation. He had a history of cyanotic congenital heart disease. Five years before presentation, he had 24-hour urine metanephrines 43 mcg/d (25-222), vanillylmandelic acid 3 mg/d (&lt;6), and homovanillic acid 2.4 mg/d (1.6-7.5) levels and a 3.13 cm mass in the upper aortocaval space. Subsequent imaging showed slow growth of the mass. On admission, his blood pressure was 197/134 mm Hg, heart rate was 163 beats per minute, respiratory rate was 25 per minute, and oxygen saturation was 76% on room air. His 24-hour urine normetanephrine level was 2644 mcg/d (81-667) while metanephrine was 405 mcg/d (55-320). Plasma free metanephrine level was 0.92 nmol/L (0-0.49) and normetanephrine was 11.85 nmol/L (0-0.89). DOTATATE positron emission tomography–computed tomography revealed a 4.3 × 3.1 × 4.9 cm mass with activity in the right upper aortocaval space. He was treated with Prazosin. Two months later, he underwent resection of the mass. Pathology diagnosed a 4.9 cm PGL. He had improvement in metanephrine levels.</p></div><div><h3>Discussion</h3><p>PGL is diagnosed by documenting excess catecholamines and identifying a lesion on imaging. False negative laboratory testing is rare but can occur. Patients with cyanotic congenital heart disease have a greater risk of developing PGL.</p></div><div><h3>Conclusion</h3><p>It is crucial to evaluate a patient for PGL if clinical conditions suggest catecholamine excess, especially if a retroperitoneal tumor has grown or the patient has risk factors.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 6","pages":"Pages 193-196"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001396/pdfft?md5=99d1f515acd38b218938f26164164633&pid=1-s2.0-S2376060523001396-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134917287","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}

{"title":"Primary Adrenal Insufficiency due to Cryptococcus With Persistent Adrenal Enlargement and Insufficiency","authors":"Catherine E. Price MD,&nbsp;Cynthia Burns MD,&nbsp;Joseph A. Aloi MD","doi":"10.1016/j.aace.2023.09.002","DOIUrl":"10.1016/j.aace.2023.09.002","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Infiltrative fungal infections are an unusual cause of primary adrenal insufficiency (AI). Our objective is to present a long-term follow-up of a patient with AI due to cryptococcal adrenalitis.</p></div><div><h3>Case Report</h3><p>A 47-year-old woman presented in January 2004, with 50-lb weight loss, nausea, emesis, and headache with diplopia. During the 6 months prior to her presentation the patient had multiple admissions for evaluation of recurrent nausea and emesis. Prior to the most recent of these admissions, the patient developed a headache; evaluation of her cerebrospinal fluid revealed the presence of <em>Cryptococcus</em>, and she was treated with a 2-week course of amphotericin B. Physical examination demonstrated a temperature of 101.1 °F, heart rate of 110 bpm, and blood pressure of 94/65 mm Hg. She appeared ill and was underweight with dry mucous membranes and photophobia. Laboratory tests revealed random cortisol of 0.5 μg per dL. CT imaging showed bilateral adrenal gland enlargement and fine needle aspiration of the adrenal gland revealed encapsulated budding yeast. Stress dose intravenous glucocorticoids were administered and switched to oral hydrocortisone and fludrocortisone because the patient clinically improved with a second course of amphotericin B. Further evaluation in 2017 revealed persistently enlarged adrenal glands, positive cryptococcus antigen, and low IgG levels.</p></div><div><h3>Discussion</h3><p>Our literature review noted few publications of AI caused by disseminated cryptococcus with no long-term follow-up of these cases beyond a 1- to 4-year time frame.</p></div><div><h3>Conclusion</h3><p>Patients with AI due to disseminated fungal infection need long-term follow-up to assess for resolution of adrenal enlargement and evaluation of immunocompromised status.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 6","pages":"Pages 189-192"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001384/pdfft?md5=acdf28154fce382b5bdc781979bb5c2a&pid=1-s2.0-S2376060523001384-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135434338","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}

{"title":"Sellar Mass in 2 Patients With Acute-Onset Headache and Visual Symptoms: Not Your Usual Pituitary Adenoma","authors":"Run Yu MD, PhD","doi":"10.1016/j.aace.2023.09.004","DOIUrl":"10.1016/j.aace.2023.09.004","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Clinical diagnosis of rare aggressive sellar malignancies requires a high index of suspicion. The objective was to report 2 patients with primary sellar atypical teratoid (AT)/rhabdoid tumor (RT) who presented with acute-onset headache and visual symptoms.</p></div><div><h3>Case Report</h3><p>Patient 1 was a 45-year-old woman who presented with 3 weeks of headache and 1 week of eye pain and diplopia. Magnetic resonance imaging (MRI) identified a 2.2-cm sellar mass. Pituitary hormone testing showed elevated prolactin and suppressed luteinizing hormone, follicle-stimulating hormone, and estradiol levels. Patient 2 was a 32-year-old woman who presented with 1 month of headache and 1 week of diplopia. MRI showed a 2.1-cm sellar mass. Hormonal test results were reportedly unremarkable. Both patients did not have a significant medical history. They each underwent transsphenoidal resection. Surgical histology and molecular studies were consistent with primary sellar AT/RT. After surgery, patient 1 developed bilateral blindness and was lost to follow-up. Patient 2 developed hypopituitarism; her visual symptoms improved temporarily but recurred 2 weeks later. Pituitary MRI showed sellar recurrence. She underwent further debulking, but the tumor recurred promptly again. Despite radiation therapy, she died 4 months after the original presentation.</p></div><div><h3>Discussion</h3><p>AT/RT appears to be the most aggressive sellar malignancy.</p></div><div><h3>Conclusion</h3><p>Based on the 2 cases presented and the literature, I conclude that rapidly progressive headache with subsequent visual impairment in women with large sellar masses is almost pathognomonic of sellar AT/RT.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 6","pages":"Pages 197-200"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001402/pdfft?md5=b69ea4bbf02f6fd6326e6652726e77dd&pid=1-s2.0-S2376060523001402-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135588619","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}

{"title":"The Use of Ovarian Vein Sampling to Lateralize a Virilizing Leydig Cell Ovarian Tumor","authors":"Kirun Baweja MbChB ,&nbsp;Shirley Shuster MD ,&nbsp;Sara Awad MBBS, MHPE","doi":"10.1016/j.aace.2023.07.003","DOIUrl":"10.1016/j.aace.2023.07.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Leydig cell tumors are a rare androgen-secreting ovarian tumor. We present a patient with virilization symptoms secondary to a Leydig cell tumor, with nonrevealing imaging studies, that was localized using ovarian vein sampling (OVS).</p></div><div><h3>Case Report</h3><p>A 56-year-old postmenopausal woman was referred by her gynecologist to the endocrinology clinic for voice-deepening, clitoral enlargement, scalp hair loss, and excessive body hair growth. Her total testosterone was 11.5 (0.3-1.3 nmol/L), bioavailable testosterone was 7.19 (0.1-0.6 nmol/L), and dehydroepiandrosterone sulfate was 4.0 (0.8-4.9 μmol/L). Transvaginal ultrasound and abdominal magnetic resonance imaging showed no adrenal or ovarian masses bilaterally. On adrenal vein sampling (AVS) and OVS, total testosterone from the left gonadal vein was 780.0 (0.3-1.3 nmol/L) and right gonadal vein was 18.6 (0.3-1.3 nmol/L), with a left-to-right ovarian testosterone ratio of 41.94. A bilateral salpingo-oophorectomy was performed, and a 1.0 cm Leydig cell tumor in the left ovary was noted on histopathology. One month after surgery, her total and bioavailable testosterone were &lt;0.4 (0.3-1.3 nmol/L and 0.1-0.6 nmol/L, respectively). At 6 months, she had normalization of her voice to baseline, decreased clitoral size, decreased hair growth on her back, and improvement in her male-pattern baldness.</p></div><div><h3>Discussion</h3><p>OVS and AVS are useful diagnostic investigation tools in cases of virilization, in which imaging is nonrevealing. Our case supports previously suggested left-to-right ovarian vein testosterone ratio of ≥15 being associated with a left-sided tumor.</p></div><div><h3>Conclusion</h3><p>Few cases have been published on the interpretation of AVS and OVS in the setting of virilization. Previously suggested ratios for lateralization were valid for this patient.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 6","pages":"Pages 182-185"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001281/pdfft?md5=545505b0885f52fc704f17c24f420151&pid=1-s2.0-S2376060523001281-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48949072","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}

{"title":"Editorial for November/December Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH (Editor in Chief)","doi":"10.1016/j.aace.2023.10.007","DOIUrl":"https://doi.org/10.1016/j.aace.2023.10.007","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 6","pages":"Page 181"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001487/pdfft?md5=6d8c98abee9d2f33bbb3cc9037a9aefd&pid=1-s2.0-S2376060523001487-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138412457","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}

{"title":"Rare Neurologic Presentation of Thyrotoxicosis","authors":"Kalkidan Alachew,&nbsp;Keberte Tsegaye","doi":"10.1016/j.aace.2023.06.002","DOIUrl":"10.1016/j.aace.2023.06.002","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 174-175"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41095937","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}

{"title":"Hypertensive Crisis in a Patient With a Functioning Mesenteric Paraganglioma: Dramatic Response to Octreotide Treatment","authors":"Omayma T. Elshafie MBBS, MD ,&nbsp;Abir C. Bou Khalil MD ,&nbsp;Maha A. Alshaibi MD ,&nbsp;Boris L. Itkin MD, MSc ,&nbsp;Babikir M. Ismail MBBS, MD ,&nbsp;Nicholas J. Woodhouse OBE","doi":"10.1016/j.aace.2023.05.003","DOIUrl":"10.1016/j.aace.2023.05.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>To report a dramatic and immediate clinical and biochemical response during treatment with octreotide in a patient with a functioning mesenteric paraganglioma (PGL).</p></div><div><h3>Case Report</h3><p>A 44-year-old woman was admitted with a severe hypertensive crisis and a blood pressure reaching 260/150 mm Hg. She was 2 months postpartum and had been previously diagnosed with pre-eclampsia. Secondary hypertension was suspected. This was confirmed by finding a 6 × 5-cm² retroperitoneal mass located using 68-Gallium DOTA–octreotate positron emission tomography/computed tomography and a grossly elevated plasma catecholamine level of 93 000 pmol/L (normal reference range: 650-2433 pmol/L). Treatment was immediately started with high doses of long- and short-acting octreotide. After 6 weeks and before surgery, the patient was normotensive, with a blood pressure of 120/70 mm Hg and a norepinephrine level of 6000 pmol/L. The tumor resection was uneventful, and histology confirmed the diagnosis. Following the surgery, the patient remained normotensive without any medications.</p></div><div><h3>Discussion</h3><p>PGLs and pheochromocytomas are neuroendocrine tumors, and most have receptors for octreotide. This case and another patient previously reported responded dramatically to treatment with a high dose of octreotide. Earlier reports of patients failing to respond are likely to have been the result of using a smaller octreotide dose.</p></div><div><h3>Conclusion</h3><p>We conclude that high doses of short- and long-acting octreotide are valuable in severely hypertensive patients. Our experience suggests that octreotide is of value in other patients with PGLs and pheochromocytomas. The response is rapid, sustained, effective, and with minimal reported side effects. To the best of our knowledge, this is the first report of a hypertensive crisis in a functional mesenteric PGL.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 149-152"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41100376","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}

{"title":"Rash in a Patient With New-Onset Type 1 Diabetes Mellitus","authors":"Amr Wahba MD,&nbsp;Amie Ogunsakin MD","doi":"10.1016/j.aace.2023.07.004","DOIUrl":"10.1016/j.aace.2023.07.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 178-179"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41101152","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}

{"title":"Amelioration of Paget Disease of Bone After Denosumab for Osteopenia","authors":"Vijayvardhan Kamalumpundi BS ,&nbsp;Elham Shams MD ,&nbsp;Maisoon Torfah MD ,&nbsp;Marcelo L. Correia MD, MSc, PhD","doi":"10.1016/j.aace.2023.05.007","DOIUrl":"10.1016/j.aace.2023.05.007","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Denosumab is a monoclonal antibody that inhibits bone resorption and is indicated for the treatment of osteoporosis, bone metastases, and giant cell tumor of bone. We describe a woman with symptomatic Paget disease of the skull whose headaches and monostotic disease of the skull improved after receiving denosumab for concomitant low bone density.</p></div><div><h3>Case Report</h3><p>A 75-year-old woman presented with unremitting headache of 1 month. She had a medical history of polymyalgia rheumatica, osteopenia, hypothyroidism, and gastroesophageal reflux disease. She reported taking prednisone 1 to 20 mg daily for polymyalgia rheumatica for 1 year and received a dose of denosumab 60 mg for osteopenia 1 month before presentation. The calcium, alkaline phosphatase, and bone-specific alkaline phosphatase levels were 8.2 mg/dL (reference range [RR], 8.5-10.5 mg/dL), 132 U/L (RR, 40-129 U/L), and 17.8 μg/L (RR, 7-22.4 μg/L), respectively. Skull radiography revealed sclerosis/hyperostosis, lytic lesions, and expansion of bone, consistent with Paget disease of bone (PDB). Five months after the initial presentation, her headache resolved, and her calcium and alkaline phosphatase levels were 9.7 U/L and 96 U/L, respectively.</p></div><div><h3>Discussion</h3><p>Denosumab neutralizes the receptor activator of nuclear factor-kappa B ligand. To date, there have been 2 case reports reported in the English literature of denosumab used successfully in patients with PDB who could not tolerate or were not eligible for bisphosphonates. This case report describes a patient with PDB treated with denosumab for osteopenia who experienced improvement in PDB-related symptoms.</p></div><div><h3>Conclusion</h3><p>Although denosumab was originally approved for the treatment of osteoporosis, the inhibition of bone resorption via inhibition of the receptor activator of nuclear factor-kappa B ligand may be potentially effective in the treatment of PDB.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 158-161"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41104343","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}

{"title":"Autoimmune Hypoglycemia With Anti-Insulin Autoantibodies in an Eighty-One-Year-Old Woman Without Apparent Risk Factors","authors":"Vikash Kumar MD ,&nbsp;Dhir Gala BS ,&nbsp;Ibnul Rafi BS ,&nbsp;Mili Shah BS ,&nbsp;Sabrin Marowa MD ,&nbsp;Diksha Kaul MD ,&nbsp;Simon Lukose MD ,&nbsp;Saka Kazeem MD","doi":"10.1016/j.aace.2023.04.012","DOIUrl":"10.1016/j.aace.2023.04.012","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Insulin autoimmune syndrome (IAS) is a very rare cause of hypoglycemia presenting with recurrent fasting or postprandial hypoglycemia episodes with elevated serum insulin levels and insulin autoantibodies. The objective of this case is to highlight the importance of considering IAS in patients with hypoglycemia.</p></div><div><h3>Case Report</h3><p>We present a case of an 81-year-old female who presented with symptoms of hypoglycemia. She was found to have hyperinsulinemic hypoglycemic episodes without any apparent risk factors for IAS. She had positive–insulin autoantibodies in her serum leading to the diagnosis of IAS. Acutely, hypoglycemia was managed with D50 pushes, oral glucose, and glucagon injection.</p></div><div><h3>Discussion</h3><p>Patients who present with hypoglycemia due to endogenous hyperinsulinemia should have IAS considered as a possible differential diagnosis. Insulin autoantibodies are measured as the gold standard diagnostic test for IAS. Foods with a low glycemic index are the primary treatment for IAS.</p></div><div><h3>Conclusion</h3><p>This case presentation highlights the importance of considering IAS as a differential diagnosis in patients presenting with hypoglycemia secondary to hyperinsulinemia, even in the absence of apparent risk factors.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 146-148"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/1b/main.PMC10509373.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41106971","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}