Peter Cassar, Dione Buhagiar, Jonathan Gauci, Kyra Bartolo, Adrian Mizzi, Andrew Mallia, Josef Micallef
{"title":"Dipnech: A Rare Cause of Slow-Growing Pulmonary Nodules in a Dyspnoeic Patient with a History of Breast Cancer.","authors":"Peter Cassar, Dione Buhagiar, Jonathan Gauci, Kyra Bartolo, Adrian Mizzi, Andrew Mallia, Josef Micallef","doi":"10.12890/2024_004870","DOIUrl":"10.12890/2024_004870","url":null,"abstract":"<p><p>A middle-aged woman undergoing a computed tomography scan while being investigated for a retrosternal goitre, was found to have several solid intrapulmonary nodules of varying sizes with mosaic attenuation of lung parenchyma. After serial radiology follow-up, a radiologist with a special interest in thoracic imaging made the tentative diagnosis of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) during discussions at the local multidisciplinary team meeting. Radionuclide imaging was performed to assist in reaching a diagnosis. Uptake of DOTATATE by the pulmonary nodules on a background of mosaic attenuation pattern supported a diagnosis of DIPNECH. Potential secondary metastatic disease from previous breast malignancy confounded a possible earlier diagnosis of DIPNECH, with subsequent diagnostic imaging modalities leading to the rare diagnosis. The patient was treated symptomatically with oral steroids with no improvement, and subsequently with octreotide which significantly improved her condition.</p><p><strong>Learning points: </strong>Clinical symptoms of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) are common to several other respiratory conditions that are found ubiquitously in the community; being aware of this rare condition will help in reaching a diagnosis in a timelier manner.Several potential treatments are described in the literature including steroid therapy, cytotoxic agents and somatostatin analogues, which despite their efficacy have not been demonstrated in studies; however, a small number of case reports such as this one showed an improvement in symptomatology with this treatment.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004870"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380343","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}
Nicolas Moussallem, Gaelle-Christie Haddad, Sergio Sbeih, Karam Karam, Elias Fiani
{"title":"Selective Serotonin Reuptake Inhibitors and Solitary Rectal Ulcer Syndrome: A Bloody Relationship.","authors":"Nicolas Moussallem, Gaelle-Christie Haddad, Sergio Sbeih, Karam Karam, Elias Fiani","doi":"10.12890/2024_004826","DOIUrl":"10.12890/2024_004826","url":null,"abstract":"<p><strong>Introduction: </strong>Solitary rectal ulcer syndrome (SURS) is a poorly understood and uncommon benign disorder of the lower gastrointestinal tract. It presents with various symptoms, often misinterpreted as inflammatory bowel disease. To date, there is no association between the use of selective serotonin reuptake inhibitors (SSRIs) and SURS.</p><p><strong>Case description: </strong>A 29-year-old male on paroxetine for six months and with a non-contributory surgical history presented to the clinic due to three months of haematochezia, abdominal pain and mucoid discharge. Physical examination and a review of systems were unremarkable; a colonoscopy demonstrated a suspicious ulcerated lesion in the rectum, which was identified as SURS on biopsy. The patient was advised lifestyle and dietary modifications. In addition, paroxetine was discontinued, and patient was switched to venlafaxine, a serotonin-norepinephrine reuptake inhibitor. Subsequently, the patient's symptoms resolved gradually, and he did not report any signs of recurrence on follow-up.</p><p><strong>Conclusion: </strong>Literature confirms that SSRIs can increase the occurrence of GI ulceration yet focuses specifically on upper gastrointestinal bleeding rather than rectal bleeding. This finding raises the need for further research.</p><p><strong>Learning points: </strong>SURS is often underdiagnosed or misdiagnosed as inflammatory bowel disease.The pathophysiology and aetiology behind SURS remain obscure.This case points to a potential correlation between SSRIs use and SURS development.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004826"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380358","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}
Catarina Pestana Santos, Daniela Cruz, Bruno Gonçalves de Sousa, Tiago Judas
{"title":"From Diagnosis to Treatment: A Successful Case of Haemophagocytic Lymphohistiocytosis of Presumed Bacterial Aetiology in an Adult.","authors":"Catarina Pestana Santos, Daniela Cruz, Bruno Gonçalves de Sousa, Tiago Judas","doi":"10.12890/2024_004812","DOIUrl":"10.12890/2024_004812","url":null,"abstract":"<p><p>Haemophagocytic lymphohistiocytosis (HLH) affects patients across all age groups and can be classified as either primary HLH (P-HLH) or secondary HLH (S-HLH). The latter is associated with clinical conditions that disrupt normal immunological responses, such as infections, neoplasms or autoimmune diseases. Although HLH can occur sporadically in healthy individuals, it is more frequently observed in patients with haematological malignancies and autoimmune disorders. The diagnostic process for HLH is often challenging due to its non-specific signs and the absence of pathognomonic findings. The primary objective in treating S-HLH is to eliminate the underlying trigger and control immunological hyperactivation, making the identification and treatment of triggers critically important. Prompt diagnosis and treatment are essential, as the mortality rate remains high. In this context, we present the case of a young woman diagnosed with idiopathic S-HLH, likely triggered by a bacterial infection. The diagnosis was achieved due to a high index of clinical suspicion for S-HLH. The patient exhibited an excellent response to antimicrobial therapy, resulting in the complete resolution of haemophagocytosis. The authors deem it important to present this case to enhance awareness of S-HLH diagnosis, as well as the investigation and management of potential triggers.</p><p><strong>Learning points: </strong>Haemophagocytic lymphohistiocytosis is characterised as a rare inflammatory syndrome that occurs due to uncontrolled systemic immune activation.Timely diagnosis and treatment are essential, as mortality is still high.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004812"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380346","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":"Aorto-Right Atrial and Aorto-Right Ventricular Fistulas as a Complication of Subacute Infective Endocarditis.","authors":"Cristina Dodul, Ana-Maria Sarpe Paduraru, Luiza Nechita, Andreea Boghean, Cristian Gutu, Maria Ursu","doi":"10.12890/2024_004806","DOIUrl":"10.12890/2024_004806","url":null,"abstract":"<p><p>Aorto-atrial fistula (AAF) and aorto-ventricular fistula (AVF) are a rare, but potentially life-threatening condition, where an anomalous connection forms between the aortic structures and the cardiac atria or ventricles. The exact incidence of this condition is unknown, as are the major precipitating factors and best treatment options. It may be congenital, secondary to conditions such as aortic dissection, infective endocarditis, or valve replacement, or iatrogenic in nature. In the case reported here a 72-year-old male who was found to have an infective endocarditis complicated by right AAF and AVF. This case illustrates the important role of transesophageal echocardiography in the evaluation of a patient with subacute infective endocarditis with a very rare complication.</p><p><strong>Learning points: </strong>Aortic fistulas are a rare, potentially fatal, complications of subacute infective endocarditis.Early recognition is greatly assisted by transesophageal echocardiography.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004806"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380327","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}
Jeffrey B Booker, Kenneth M Zabel, Jake Soens, Abu Baker Sheikh
{"title":"Management of Acquired Amegakaryocytic Thrombocytopenia and Severe Coronary Artery Disease.","authors":"Jeffrey B Booker, Kenneth M Zabel, Jake Soens, Abu Baker Sheikh","doi":"10.12890/2024_004736","DOIUrl":"10.12890/2024_004736","url":null,"abstract":"<p><p>Amegakaryocytic thrombocytopenia is a rare haematologic disorder characterised by a profound reduction in platelet production due to the near absence of megakaryocytes, leading to severe thrombocytopenia. This report elucidates the diagnostic and therapeutic challenges encountered in managing such rare haematological conditions alongside significant cardiovascular disease. We detail the case of a patient who presented with chest pain and was diagnosed with non-ST elevation myocardial infarction (NSTEMI). Subsequent investigations revealed severe thrombocytopenia and underlying triple vessel disease, complicating immediate surgical intervention. Initial management strategies aimed at treating presumed immune thrombocytopenia proved ineffective. A definitive diagnosis of amegakaryocytic thrombocytopenia was established following a bone marrow biopsy. Despite treatment adjustments, including the administration of thrombopoietin agonists and immunosuppression, platelet counts improved but did not reach levels safe for coronary artery bypass grafting. This case underscores the importance of diagnosis and treatment of systemic disorders prior treatment of cardiac disease. It also demonstrates the importance of interdisciplinary cooperation in the treatment of a complex patient case.</p><p><strong>Learning points: </strong>Amegakaryocytic thrombocytopenia is a rare cause of thrombocytopenia that can co-occur with cardiac conditions.The diagnosis of amegakaryocytic thrombocytopenia can be difficult as it can be mistaken for immune mediated thrombocytopenia, but distinction is critical as treatments differ.Modern patient care frequently requires collaboration between different subspecialities.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004736"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380349","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":"Dacryoadenitis as a Rare Initial Presentation in a Patient with Suspected Crest Syndrome.","authors":"Arkaja Singh, Sameer Rao, Riya Shah, Mashal Maheshwari, Aarish Dhillon, Silka Gupta","doi":"10.12890/2024_004801","DOIUrl":"10.12890/2024_004801","url":null,"abstract":"<p><p>Systemic sclerosis (SSc) is a rare, chronic disease with diverse clinical presentations, and only a few cases with ocular manifestations have been reported in the literature. In this case report, we describe the case of a 51-year-old South Asian woman who initially complained of painless swelling in her left upper eyelid. An ultrasound examination of the left eye revealed an enlarged lacrimal gland with increased vascularity. The presence of dacryoadenitis, which was unresponsive to initial conservative management with oral antibiotics and warm compresses, along with positive antinuclear antibodies, prompted further investigation. Dacryoadenitis or orbital inflammation is a common presentation in systemic conditions such as Sjogren's syndrome, systemic lupus erythematosus, sarcoidosis, or granulomatosis with polyangiitis. However, it can also be a rare initial symptom in a patient with CREST syndrome. To our knowledge, this is only the second case in the literature of dacryoadenitis in the context of calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome. This case highlights the significance of serological markers and peripheral clinical presentations in individuals with chronic orbital inflammation, emphasizing the importance of considering further systemic associations.</p><p><strong>Learning points: </strong><i>Broad spectrum of clinical features:</i> Recognize that although CREST syndrome is primarily characterized by its hallmark features - calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia - it can also present with additional clinical features that may indicate the onset or presence of the syndrome.<i>Diagnostic challenges and differentiation:</i> <i>Diagnostic challenges and differentiation:</i> Bilateral dacryoadenitis can be challenging to diagnose due to its overlapping symptoms with other orbital or systemic conditions. The case report may highlight the importance of differentiating it from conditions like orbital cellulitis, sarcoidosis, or lymphoproliferative disorders. Advanced imaging techniques (like magnetic resonance imaging or computed tomography scans) and careful assessment of clinical history (including systemic symptoms like fever or autoimmune conditions) are crucial for accurate diagnosis.<i>Awareness of atypical presentations and follow-up:</i> The case report underscores the need for tailored management strategies for bilateral dacryoadenitis, from conservative treatments in mild cases to more aggressive therapies in severe ones, while also highlighting the importance of monitoring for complications and being vigilant about atypical presentations, such as those seen in patients with CREST syndrome.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004801"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380331","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}
Gaelle-Christie Haddad, Nicolas Moussallem, Sergio Sbeih, Karam Karam, Elias Fiani
{"title":"Double the Trouble: A Rare Finding of Gastritis Cystica Profunda in a Previously Unoperated Young Female with Concomitant <i>Helicobacter Pylori</i> Infection.","authors":"Gaelle-Christie Haddad, Nicolas Moussallem, Sergio Sbeih, Karam Karam, Elias Fiani","doi":"10.12890/2024_004845","DOIUrl":"10.12890/2024_004845","url":null,"abstract":"<p><p>Gastritis cystica profunda (GCP) is a rare lesion of the stomach. It is characterised by hyperplasia and cystic dilation of the gastric gland in the submucosal layer. It is usually believed to occur at the site of previous gastric surgeries, as the anastomotic remnants act as a foundation for the development of the lesion. We present a case of a 39-year-old female, previously healthy with no history of gastric surgeries, who sought medical care for melena and lethargy of one month's duration. Her complete blood count showed a significant drop in haemoglobin (from 13 to 9 g/dl). Upper endoscopy revealed a submucosal lesion in the pre-pyloric region; biopsies showed the characteristic findings of GCP. The latter is a rare cause of upper gastrointestinal (GI) bleeding and its diagnosis and treatment remain challenging. Medical literature has not unveiled its association with chronic inflammation and <i>Helicobacter pylori</i> infection as many cases are being found in previously unoperated individuals. Even though GCP remains a rare entity, it should be incorporated in the differential diagnoses of upper GI bleeding and further prospective studies should highlight other contributing factors.</p><p><strong>Learning points: </strong>Gastritis cystica profunda (GCP) is a rare lesion of the stomach.GCP is seldom included in the differential diagnosis of an upper GI bleed.GCP can be considered as a premalignant lesion or can portend an underlying malignancy.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004845"},"PeriodicalIF":0.0,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380344","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}
Karam Karam, Samia Mitri, Lamia Azizi, Elias Fiani
{"title":"Diaphragm Disease of the Terminal Ileum: The Great Imitator.","authors":"Karam Karam, Samia Mitri, Lamia Azizi, Elias Fiani","doi":"10.12890/2024_004829","DOIUrl":"10.12890/2024_004829","url":null,"abstract":"<p><p>Non-steroidal anti-inflammatory drugs (NSAIDs) are associated with an array of intestinal injuries: erosions, ulcers, enteropathy, strictures and diaphragm disease. The diagnosis of diaphragm disease is challenging. Diaphragm disease can cause thin, concentric and stenosing strictures, which can induce intermittent or complete bowel obstruction. NSAID-induced lesions are reversible following discontinuation of the offending agent. Treatment of diaphragm disease can be conservative, endoscopic or surgical through stricturoplasty and/or segmental resection. We report a case of a 59-year-old female presenting with intermittent right lower quadrant pain diagnosed with diaphragm disease upon combined ileo-colonoscopy and histopathological analysis. Her diaphragm disease was successfully treated conservatively through drug cessation, avoiding more invasive procedures like endoscopic and surgical interventions.</p><p><strong>Learning points: </strong>The incidence of diaphragm disease has been soaring due to the widespread use of non-steroidal anti-inflammatory drugs (NSAIDs).Diaphragm disease is characterized by diaphragm-like mucosal projections and annular constrictions that induce luminal narrowing and result in bowel obstruction.Physicians should get acquainted with diaphragm disease and include it in their differential diagnosis when approaching a patient with obstruction-like symptoms or non-specific and vague abdominal pain in the setting of chronic NSAIDs usage.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004829"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380332","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}
Ana Carolina Monteiro, Tomás França de Santana, Carolina Chumbo, Catarina Negrão, Teresa Valido, Filipa Figueiredo, Clara Matos
{"title":"Tumefactive Multiple Sclerosis: The Lethal Chameleon.","authors":"Ana Carolina Monteiro, Tomás França de Santana, Carolina Chumbo, Catarina Negrão, Teresa Valido, Filipa Figueiredo, Clara Matos","doi":"10.12890/2024_004779","DOIUrl":"https://doi.org/10.12890/2024_004779","url":null,"abstract":"<p><p>Tumefactive multiple sclerosis (TMS) is a rare variant of multiple sclerosis that presents with a large demyelinating lesion in the central nervous system, accompanied by peripheral ring-like enhancement, perilesional oedema and mass effect. We report a case of a 59-year-old woman who was admitted to the hospital with a four-day history of somnolence, muscle weakness in her left extremities and ultimately, loss of consciousness. Over the following 48 hours, the patient's condition worsened with progressive consciousness impairment. Although the results of the initial head computed tomography (CT) scan supported the diagnosis of a multifocal ischaemic stroke, toxoplasmosis was proposed as the most credible diagnostic hypothesis by brain magnetic resonance imaging (MRI). Due to the adverse clinical progression following the initiation of targeted therapy and inconclusive investigation, a brain biopsy was performed, which was indicative of active TMS in a subacute phase. The patient was started on plasmapheresis and natalizumab along with corticosteroids, with a very good response. In conclusion, we report a biopsy-proven TMS diagnosis in a patient that clinically mimicked an acute stroke and was radiographically confounded with intracranial toxoplasmosis. It highlights that TMS is an uncommon neurological demyelinating disease that is often misdiagnosed. It also emphasises the importance of establishing an accurate differential diagnosis to promptly initiate aggressive immunosuppressive treatment, which may result in a more favourable prognosis.</p><p><strong>Learning points: </strong>Tumefactive multiple sclerosis is an uncommon variant of multiple sclerosis that presents a substantial diagnostic challenge due to its potential to resemble the clinical and radiological characteristics of other central nervous system (CNS) pathologies, including neoplasms, granulomatous diseases, abscesses and vasculitis.Despite the fact that multimodal imaging studies may help narrow the differential diagnosis, a biopsy is often required to reach a definitive diagnosis and should not be delayed.Awareness of this condition among non-neurologists is critical since a timely and accurate diagnosis prompts aggressive immunomodulatory treatments that may delay a second demyelinating event or progression to clinically definite multiple sclerosis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 9","pages":"004779"},"PeriodicalIF":0.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11379104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282368","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":"Vitamin B12 Deficiency in Thrombotic Thrombocytopenic Purpura-Like Cases.","authors":"Inemesit Akpan, Ghida Akhdar, Kaelan Dawson, Amanda Hathaway","doi":"10.12890/2024_004714","DOIUrl":"10.12890/2024_004714","url":null,"abstract":"<p><strong>Background: </strong>Thrombotic microangiopathies (TMA) are characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia, and organ damage which occur in the setting of endothelial damage and platelet activation. Vitamin B12 (cobalamin) deficiency could lead to a picture that resembles TMA, termed metabolic mediated TMA (MM-TMA).</p><p><strong>Case presentation: </strong>A 60-year-old female was brought to the hospital after she was found unresponsive. On presentation, she was pale, lethargic, tachycardic, and febrile. Laboratory investigations revealed normocytic anemia, thrombocytopenia, and elevated bilirubin. Blood smear revealed schistocytes and tear drop cells. Given the presence of hemolytic anemia, thrombocytopenia, acute renal failure, and altered mental status, a presumptive diagnosis of thrombotic thrombocytopenic purpura (TTP) was made with a PLASMIC score of 7 indicating high risk. She received plasma exchange, caplacizumab, and intravenous methylprednisolone. Given the patient's low level of vitamin B12, she was initiated on intramuscular cyanocobalamin 1000 μg daily. The encephalopathy resolved and renal function improved. On day 6, <i>ADAMTS13</i> activity was normal ruling out the diagnosis of TTP. Accordingly, plasmapheresis, steroids, and caplacizumab were discontinued. With continued aggressive B12 replacement, hemolysis resolved indicating severe vitamin B12 deficiency was the likely culprit of this patient's microangiopathic hemolytic anemia.</p><p><strong>Conclusion: </strong>This case serves to highlight the variable presentation of vitamin B12 deficiency. Severe vitamin B12 deficiency can even mimic TTP. If patients have markers of hemolysis, a low vitamin B12 level, and low reticulocyte count we should consider vitamin B12 deficiency as a likely cause of microangiopathic hemolytic anemia as early detection allows for early initiation of appropriate management.</p><p><strong>Learning points: </strong>Vitamin B12 deficiency can be a cause of thrombotic microangiopathy.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 10","pages":"004714"},"PeriodicalIF":0.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380362","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}