AACE Clinical Case Reports最新文献

{"title":"Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency","authors":"Hyunho Seol MD ,&nbsp;Yoon Hee Hong MD ,&nbsp;Min Ji Jeon MD, PhD","doi":"10.1016/j.aace.2024.01.005","DOIUrl":"10.1016/j.aace.2024.01.005","url":null,"abstract":"<div><h3>Background/Objective</h3><p>The high-dose dexamethasone suppression test is a common and usually benign endocrine procedure. We report a patient with ornithine transcarbamylase deficiency (OTCD) who developed hyperammonemic encephalopathy after a high-dose dexamethasone suppression test.</p></div><div><h3>Case Report</h3><p>A 46-year-old woman with a 1.3-cm right adrenal incidentaloma causing mild autonomous cortisol secretion underwent a high-dose dexamethasone suppression test for confirming adrenocorticotropic hormone independency. On the next day, she presented to the emergency room with confusion and somnolence. Her Glasgow Coma Scale score was 10 on arrival. The initial laboratory results showed ammonia, alanine transaminase, creatinine, and blood urea nitrogen levels of 289.51 (18.73-54.5) μg/dL, 21 (≤33) IU/L, 0.6 (0.6-1.1) mg/dL, and 13 (7-20) mg/dL, respectively. Electroencephalography showed triphasic morphology with no pathologies on brain imaging. Her husband told us that her brother and son had died in the neonatal period. On further review of medical records, we found that she was diagnosed as an OTCD carrier. We administered L-arginine, L-carnitine, rifaximin, and continuous renal replacement therapy. After 3 days, the serum ammonia level was 78.34 μg/dL with an increased Glasgow Coma Scale score of 15, and electroencephalography abnormalities disappeared.</p></div><div><h3>Discussion</h3><p>Liver diseases and urea cycle disorders are the leading causes of hyperammonemia. This causes encephalopathy and death if the ammonia levels are too high. X-linked OTCD urea cycle disorder affects men more severely as they have only the carrier X chromosome. Glucocorticoids can exacerbate this disorder because they increase protein substrates converted to ammonia.</p></div><div><h3>Conclusion</h3><p>This case reminds that it may be particularly important to have a complete medical history when administering glucocorticoids.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 71-74"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000051/pdfft?md5=fdc2cc31a0de40a254759f64437ceacc&pid=1-s2.0-S2376060524000051-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139639070","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":"An Unusual Case of Hypercalcemia Due to Graft-Versus-Host Disease","authors":"Paras Fatima MBBS ,&nbsp;Vincent Czerwinski BS ,&nbsp;Sujata Panthi MBBS ,&nbsp;Chitra Choudhary MD","doi":"10.1016/j.aace.2023.12.002","DOIUrl":"10.1016/j.aace.2023.12.002","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Hypercalcemia is a common disorder with a wide differential and is most commonly related to malignancy and hyperparathyroidism. Hypercalcemia is a rarely reported consequence of graft-versus-host disease (GVHD) and may be related to a granulomatous manifestation of the common stem cell transplantation procedure.</p></div><div><h3>Case Report</h3><p>A 67-year-old woman with a history of allogenic stem cell transplantation due to myelodysplastic syndrome presented to the bone marrow transplant clinic with dysphagia, muscle aches, and rash. She was found to have an extremely increased calcium and 1,25-dihydroxyvitamin D levels, which were ultimately corrected with administration of steroids and zoledronic acid.</p></div><div><h3>Discussion</h3><p>While uncommon, granulomatous disease can lead to hypercalcemia via the activation of 1α-hydroxylase within macrophages, which, in turn, activates 1,25-dihydroxyvitamin D leading to an increased serum calcium level. GVHD is a common, variably presenting complication of bone marrow transplantation. Granulomatous processes related to GVHD may mediate hypercalcemia in patients with both increased calcium and 1,25-dihydroxyvitamin D levels.</p></div><div><h3>Conclusion</h3><p>This is a rare cause of calcitriol-mediated hypercalcemia associated with GVHD. There have been cases of granulomas associated with GVHD, and this could potentially lead to ectopic production of calcitriol. We deemed GVHD to be a likely cause of the patient’s calcitriol-mediated hypercalcemia because we did not find another etiology that fit the clinical findings. Physician awareness of this complication and the appropriate workup will allow future researchers to properly elucidate the etiology of this rare complication.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 45-48"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001712/pdfft?md5=8e6de027f376550010567af68b03b443&pid=1-s2.0-S2376060523001712-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139023496","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 March/April Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH (Editor in Chief)","doi":"10.1016/j.aace.2024.02.007","DOIUrl":"https://doi.org/10.1016/j.aace.2024.02.007","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Page 37"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000142/pdfft?md5=97b6000791406621101d94cef567e5cc&pid=1-s2.0-S2376060524000142-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140145133","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":"A Rare Case of Exophytic and Ulcerated Thyroid Tumor With Skin Involvement","authors":"Ana Beatriz Winter Tavares PhD,&nbsp;Marise Machado MSc,&nbsp;Luiz Guilherme Kraemer-Aguiar PhD","doi":"10.1016/j.aace.2023.11.004","DOIUrl":"10.1016/j.aace.2023.11.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Pages 33-34"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001608/pdfft?md5=ec26eddaebdaf5670ba29e3c22902417&pid=1-s2.0-S2376060523001608-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135763857","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":"Kissing Carotid Arteries Causing Male Hypogonadotropic Hypogonadism","authors":"Sima Saberi MD ,&nbsp;Jordan Bushman MD ,&nbsp;Sophia Sinha MD ,&nbsp;David Shlensky MD ,&nbsp;Jayapalli Bapuraj MBBS ,&nbsp;Nazanene H. Esfandiari MD","doi":"10.1016/j.aace.2023.11.003","DOIUrl":"10.1016/j.aace.2023.11.003","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Pages 31-32"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001591/pdfft?md5=05ee91c034b3ae09e4f67bf7ad45f929&pid=1-s2.0-S2376060523001591-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135670376","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":"A 48-Year-Old Man With a Hip Fracture and Skin Rash: A Case Report","authors":"J. Anthony Parker MD ,&nbsp;Runhua Hou MD","doi":"10.1016/j.aace.2023.10.003","DOIUrl":"10.1016/j.aace.2023.10.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Patients with systemic mastocytosis are at high risk of developing osteoporosis and fractures. Herein, we report a case of hip fragility fracture in a patient with indolent systemic mastocytosis and normal bone density.</p></div><div><h3>Case Report</h3><p>A 48-year-old man experienced a left femoral neck fracture after a fall. After a dose of oxycodone/hydromorphone postoperatively, he developed an anaphylactic reaction. Previously, he experienced a few other episodes of flushing, dizziness, and syncope precipitated by stress and alcohol. His examination was notable for pink and brown macules on his chest, back, arms, and legs. His laboratory test revealed a markedly elevated tryptase level of 171 ng/mL (&lt;11 ng/mL). Treatment including cetirizine, montelukast, and ranitidine controlled his symptoms. His bone density test result was normal. Ten months after hip surgery, his c-terminal telopeptide of collagen type 1 and bone-specific alkaline phosphatase levels significantly increased. The bone scan demonstrated diffusely increased radiotracer uptake throughout the osseous structures. Given high bone turnover and the prior hip fracture, he received zoledronic acid yearly for 3 years, and no further fractures have occurred.</p></div><div><h3>Discussion</h3><p>The case is unusual as the fracture occurred despite normal bone density and significant osteosclerosis, which was previously considered protective against fractures. Additionally, rather than the spine, the fracture occurred in the hip, which is an uncommon site for mastocytosis-induced fractures.</p></div><div><h3>Conclusion</h3><p>Mastocytosis is a rare cause of osteoporosis, and it is important to keep this condition in the differential diagnosis of osteoporosis, particularly when the fracture presentation is atypical.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Pages 2-6"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S237606052300144X/pdfft?md5=7f5447e80f07c8ae558aa27966584f81&pid=1-s2.0-S237606052300144X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135707799","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":"Reviewer Acknowledgement","authors":"","doi":"10.1016/S2376-0605(23)00173-6","DOIUrl":"https://doi.org/10.1016/S2376-0605(23)00173-6","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Page 35"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001736/pdfft?md5=835954abfa3249d7cfd1869c29760f5c&pid=1-s2.0-S2376060523001736-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139473593","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":"Olanzapine-Induced Diabetic Ketoacidosis: A Reversible Etiology Overlooked in Psychiatric Patients","authors":"Avish K. Jain DO ,&nbsp;Aditi Shah DO ,&nbsp;Geetha Bhat MD","doi":"10.1016/j.aace.2023.10.006","DOIUrl":"10.1016/j.aace.2023.10.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Olanzapine is a second-generation antipsychotic medication with increased side effects of weight gain, hyperglycemia, and insulin resistance. Here we describe a case of diabetic ketoacidosis in a patient who started taking olanzapine 12 weeks before she presented.</p></div><div><h3>Case Report</h3><p>A 73-year-old African-American female presented with a 1-week history of confusion, polyuria, and polydipsia. Her past medical history included type 2 diabetes mellitus, hyperlipidemia, and severe depression with psychotic features. Her medications were olanzapine 5 mg, duloxetine 90 mg, and rosuvastatin 5 mg daily. Three weeks prior, she was diagnosed with COVID-19 and treated for a urinary tract infection. Her physical exam upon admission included severely dry mucous membranes and labored respirations. The circulating glucose was 748 mg/dL (70-110), anion gap 39 mmol/L (7-16), and hemoglobin A1c (HgbA1c) 11.8% (105 mmol/mol). Three months prior, her HgbA1c was 6.7% (50 mmol/mol). She was treated with intravenous fluids and continuous insulin infusion followed by subcutaneous basal-bolus glargine and lispro after an anion gap of 13 mmol/L (7-16) was obtained. Two weeks into her hospitalization, olanzapine was discontinued. She was discharged on 10 units of glargine and metformin 500 mg twice daily. Five months after discharge, she indicated not taking any of the prescribed insulin or metformin. At this follow-up, her HgbA1c was 6.7%.</p></div><div><h3>Discussion</h3><p>Olanzapine may impair insulin secretion by causing pancreatic beta-cell apoptosis.</p></div><div><h3>Conclusion</h3><p>Increased awareness of the generalized metabolic effects and risk of diabetic ketoacidosis associated with antipsychotic medications is needed to develop a safe treatment plan for patients.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Pages 14-16"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001475/pdfft?md5=4ebf03efb341b2f9978b934495a2376c&pid=1-s2.0-S2376060523001475-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135922113","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 Jan/Feb Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH","doi":"10.1016/j.aace.2023.12.005","DOIUrl":"10.1016/j.aace.2023.12.005","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Page 1"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S237606052300175X/pdfft?md5=29b827d40f3768de191e781f5cec572b&pid=1-s2.0-S237606052300175X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139016442","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":"Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes","authors":"Doua Khalid Al Homyani MD ,&nbsp;Lina Al Homaiani MD","doi":"10.1016/j.aace.2023.10.004","DOIUrl":"10.1016/j.aace.2023.10.004","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient. There are limited cases of neonates with DKA who have heterozygous mutations in <em>INS</em> and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. This study aims to highlight the importance of the genetic mutations associated with neonatal diabetes and identify the clinical manifestation features of neonatal diabetes.</p></div><div><h3>Case Report</h3><p>A six-month-old boy born to consanguineous parents with a family history of neonatal diabetes was diagnosed with DKA. The case was presented to the emergency department (ED) with vomiting and increased urination for 3 days. The child showed signs of severe dehydration and severe metabolic acidosis with a high anion gap and elevated hemoglobin A1C level (16.3%) was reported. According to the genetic test, the patient had an <em>INS</em> and <em>PKHD1</em>gene mutation. The treatment was initiated according to the DKA protocol, and then he received subcutaneous insulin.</p></div><div><h3>Discussion</h3><p>Neonatal diabetes is a condition caused by several gene mutations. In this case, heterozygous mutations in <em>INS</em> and PKHD1 genes were reported. The type of gene mutation could predict neonatal diabetes type, whether permanent or transient, and its response to treatment.</p></div><div><h3>Conclusion</h3><p>Genetic testing for neonates soon after birth is suggested for the early detection and classification of neonatal diabetes, especially among children with a family history of neonatal diabetes.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 1","pages":"Pages 7-9"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001451/pdfft?md5=42d496679801734f155fc0502944a72b&pid=1-s2.0-S2376060523001451-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135811832","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}