Mark A Colantonio, Nathan Williams, Tahreem Ahmad, Waqas Ali
Ischaemic colitis is responsible for more than half of the presentations of gastrointestinal ischaemia and develops due to an interruption of intestinal blood flow. Risk factors include increasing age and conditions associated with decreased perfusion. Infrequently, ischaemic colitis may develop in young females prescribed oral contraceptives. Here, we present a case of ischaemic colitis secondary to oral contraceptives that resolved with medication discontinuation.
{"title":"ISCHAEMIC COLITIS FROM AN UNUSUAL CAUSE: ORAL CONTRACEPTIVES","authors":"Mark A Colantonio, Nathan Williams, Tahreem Ahmad, Waqas Ali","doi":"10.12890/2024_004731","DOIUrl":"https://doi.org/10.12890/2024_004731","url":null,"abstract":"Ischaemic colitis is responsible for more than half of the presentations of gastrointestinal ischaemia and develops due to an interruption of intestinal blood flow. Risk factors include increasing age and conditions associated with decreased perfusion. Infrequently, ischaemic colitis may develop in young females prescribed oral contraceptives. Here, we present a case of ischaemic colitis secondary to oral contraceptives that resolved with medication discontinuation.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"28 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141799240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Hairy cell leukaemia (HCL) is an uncommon, indolent, B-cell, lymphoproliferative disorder typically involving peripheral blood, spleen and bone marrow. It is commonly presenting with pancytopenia, monocytopenia and massive splenomegaly, while accounting for 2% of lymphoid leukaemias. Cases of extranodal lesions caused by HCL are rare, although these have been reported. Here, we report a case of HCL presenting as a paravertebral mass without systemic involvement. Case description: A 58-year-old man was admitted to our hospital due to progressive difficulty walking for a month, without any other symptoms. Blood examination noted mild anaemia with Hb=12.6 g/dl and mild thrombocytopenia of 140,000/ul. Magnetic resonance imaging (MRI) and computed tomography (CT) imaging demonstrated a T6 posterior paravertebral mass lesion, extending into the spinal canal with metastatic bone lesions along the thoracic and lumbar spine. Further imaging study with CT indicated mild splenomegaly (13.4 cm) and an enlarged abdominal lymph node (3.5 cm) near celiac trifurcation. Conclusion: A core-needle biopsy from the paravertebral mass was performed. Results showed small-sized cells with round or oval nuclei, and pale cytoplasm with immunophenotype: B-cell origination with CD20+, Cyclin D1+, DBA.44+, Annexin+ and BRAF+, indicative of HCL.
{"title":"EXTRAMEDULLARY PARAVERTEBRAL MASS: AN UNUSUAL PRESENTATION OF HAIRY CELL LEUKAEMIA","authors":"Valentini Samanidou, Aikaterini Panteli, Liontos Angelos, Biros Dimitrios, Diamantina Lymperatou, Haralampos Milionis, Kapsali Eleni","doi":"10.12890/2024_004707","DOIUrl":"https://doi.org/10.12890/2024_004707","url":null,"abstract":"Background: Hairy cell leukaemia (HCL) is an uncommon, indolent, B-cell, lymphoproliferative disorder typically involving peripheral blood, spleen and bone marrow. It is commonly presenting with pancytopenia, monocytopenia and massive splenomegaly, while accounting for 2% of lymphoid leukaemias. Cases of extranodal lesions caused by HCL are rare, although these have been reported. Here, we report a case of HCL presenting as a paravertebral mass without systemic involvement. Case description: A 58-year-old man was admitted to our hospital due to progressive difficulty walking for a month, without any other symptoms. Blood examination noted mild anaemia with Hb=12.6 g/dl and mild thrombocytopenia of 140,000/ul. Magnetic resonance imaging (MRI) and computed tomography (CT) imaging demonstrated a T6 posterior paravertebral mass lesion, extending into the spinal canal with metastatic bone lesions along the thoracic and lumbar spine. Further imaging study with CT indicated mild splenomegaly (13.4 cm) and an enlarged abdominal lymph node (3.5 cm) near celiac trifurcation. Conclusion: A core-needle biopsy from the paravertebral mass was performed. Results showed small-sized cells with round or oval nuclei, and pale cytoplasm with immunophenotype: B-cell origination with CD20+, Cyclin D1+, DBA.44+, Annexin+ and BRAF+, indicative of HCL.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"31 44","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141800521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gastric intramural haematoma is a very infrequent condition. It can occur due to clotted gastric haemorrhage as a result of peptic ulcer disease, or following trauma, oral anticoagulant therapy and bleeding disorders. It is usually suspected with the symptoms of gastrointestinal haemorrhage such as haematemesis, melena and haematochezia, and detected by endoscopy. In rare cases, the patient is asymptomatic or presents with non-related symptoms and can diagnosed by computerised tomography. In this case, we report the detection of a gastric intramural haematoma during abdominal ultrasonography in a hypotensive patient who was admitted to the emergency department after sliding and falling from a height.
{"title":"THE VALUE OF ULTRASONOGRAPHY IN DETECTING GASTRIC HAEMORRHAGE","authors":"Erman Uygun, Omer Emanet, Emin Gokhan Gencer, Ozgur Sarica, Tolga Orhan","doi":"10.12890/2024_004625","DOIUrl":"https://doi.org/10.12890/2024_004625","url":null,"abstract":"Gastric intramural haematoma is a very infrequent condition. It can occur due to clotted gastric haemorrhage as a result of peptic ulcer disease, or following trauma, oral anticoagulant therapy and bleeding disorders. It is usually suspected with the symptoms of gastrointestinal haemorrhage such as haematemesis, melena and haematochezia, and detected by endoscopy. In rare cases, the patient is asymptomatic or presents with non-related symptoms and can diagnosed by computerised tomography. In this case, we report the detection of a gastric intramural haematoma during abdominal ultrasonography in a hypotensive patient who was admitted to the emergency department after sliding and falling from a height.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"47 40","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141799646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ahlame Benhamdane, T. Adioui, S. Berrag, Fouad Nejjari, Mohamed Allaoui, M. Tamzaourte
Introduction: Primary squamous cell carcinoma of the liver (SCC) is a rare and challenging pathology. As an aggressive cancer, the prognosis is extremely poor with less than 12 months overall survival. In view of its low prevalence, we report the case of an elderly patient with primary squamous cell carcinoma of the liver. Case description: A 74-year-old female, with no pathological history, presented with acute right hypochondrium pain associated with shivering, asthenia and weight loss. We diagnosed primary hepatic squamous cell carcinoma by pathological analysis. Conclusion: Primary hepatic squamous cell carcinoma represents a rare malignant tumour with extremely poor prognosis. There is no established treatment protocol for this disease and a multidisciplinary approach is needed to choose the best therapeutic option.
{"title":"Primary squamous cell carcinoma of the liver","authors":"Ahlame Benhamdane, T. Adioui, S. Berrag, Fouad Nejjari, Mohamed Allaoui, M. Tamzaourte","doi":"10.12890/2024_004628","DOIUrl":"https://doi.org/10.12890/2024_004628","url":null,"abstract":"Introduction: Primary squamous cell carcinoma of the liver (SCC) is a rare and challenging pathology. As an aggressive cancer, the prognosis is extremely poor with less than 12 months overall survival. In view of its low prevalence, we report the case of an elderly patient with primary squamous cell carcinoma of the liver. Case description: A 74-year-old female, with no pathological history, presented with acute right hypochondrium pain associated with shivering, asthenia and weight loss. We diagnosed primary hepatic squamous cell carcinoma by pathological analysis. Conclusion: Primary hepatic squamous cell carcinoma represents a rare malignant tumour with extremely poor prognosis. There is no established treatment protocol for this disease and a multidisciplinary approach is needed to choose the best therapeutic option.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"81 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141359880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nikhil Sood, A. Vadnerkar, Murali Kodali, Lyn K. Hamacher
Pneumocystis jirovecii is an opportunistic fungus that infects the lungs but can involve other organs, including the skin and lymph nodes. Risk factors include human immunodeficiency virus (HIV), solid organ/haematological malignancies and a CD4 cell count of fewer than 200 cells/µl. Pneumocystis jirovecii pneumonia (PJP) infection is reported less frequently these days with the advent of prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMX). We report a case of extrapulmonary PJP infection in a patient while receiving pentamidine prophylaxis in a T-cell prolymphocytic leukaemia, who underwent an allogeneic stem cell transplant. There are plenty of reported cases of PJP on pentamidine prophylaxis; however, none had cutaneous PJP infection. Cutaneous P. jirovecii infection (CPJ) is an extrapulmonary infection that is rarely reported. Our patient’s skin biopsy was inconclusive, but the skin nodules improved once he was initiated on TMP-SMX. Many transplant patients cannot tolerate TMP-SMX for various reasons and are placed on second-line prophylaxis for PJP, which does not prevent extrapulmonary PJP infections. Our case highlights the challenges of diagnosing such a rare infection in immunocompromised patients. Extrapulmonary PJP should be suspected in patients with a history of pulmonary PJP and persistent elevated Fungitell® levels in low CD4 counts.
{"title":"Cutaneous Pneumocystis jirovecii infection in an allogeneic stem cell transplant recipient","authors":"Nikhil Sood, A. Vadnerkar, Murali Kodali, Lyn K. Hamacher","doi":"10.12890/2024_004615","DOIUrl":"https://doi.org/10.12890/2024_004615","url":null,"abstract":"Pneumocystis jirovecii is an opportunistic fungus that infects the lungs but can involve other organs, including the skin and lymph nodes. Risk factors include human immunodeficiency virus (HIV), solid organ/haematological malignancies and a CD4 cell count of fewer than 200 cells/µl. Pneumocystis jirovecii pneumonia (PJP) infection is reported less frequently these days with the advent of prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMX). We report a case of extrapulmonary PJP infection in a patient while receiving pentamidine prophylaxis in a T-cell prolymphocytic leukaemia, who underwent an allogeneic stem cell transplant. There are plenty of reported cases of PJP on pentamidine prophylaxis; however, none had cutaneous PJP infection. Cutaneous P. jirovecii infection (CPJ) is an extrapulmonary infection that is rarely reported. Our patient’s skin biopsy was inconclusive, but the skin nodules improved once he was initiated on TMP-SMX. Many transplant patients cannot tolerate TMP-SMX for various reasons and are placed on second-line prophylaxis for PJP, which does not prevent extrapulmonary PJP infections. Our case highlights the challenges of diagnosing such a rare infection in immunocompromised patients. Extrapulmonary PJP should be suspected in patients with a history of pulmonary PJP and persistent elevated Fungitell® levels in low CD4 counts.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"1 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141356479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdelhadi Farouji, Mohammad N. Kloub, Ahmad W. Haddad, A. Ahmad, Priscilla Chow, Richard Miller
Background: Chylothorax can be classified into traumatic and nontraumatic based on the etiology. Nephrotic syndrome is a very rare cause of nontraumatic chylothorax in adults. Case presentation: A 66-year-old woman with membranous nephropathy who was non-compliant with her management, presented with dyspnea, and was found to have a large right sided chylothorax. Her chylothorax was secondary to membranous nephropathy after excluding other causes, which has been rarely reported in literature. Conclusion: This case highlights the possibility of nephrotic syndrome causing chylothorax, especially in patients with undiagnosed nephrotic syndrome or patients non-compliant with their management. When evaluating a patient with chylothorax, providers should consider nephrotic syndrome in the differential diagnosis.
{"title":"A rare case of membranous nephropathy complicated by chylothorax","authors":"Abdelhadi Farouji, Mohammad N. Kloub, Ahmad W. Haddad, A. Ahmad, Priscilla Chow, Richard Miller","doi":"10.12890/2024_004631","DOIUrl":"https://doi.org/10.12890/2024_004631","url":null,"abstract":"Background: Chylothorax can be classified into traumatic and nontraumatic based on the etiology. Nephrotic syndrome is a very rare cause of nontraumatic chylothorax in adults. Case presentation: A 66-year-old woman with membranous nephropathy who was non-compliant with her management, presented with dyspnea, and was found to have a large right sided chylothorax. Her chylothorax was secondary to membranous nephropathy after excluding other causes, which has been rarely reported in literature. Conclusion: This case highlights the possibility of nephrotic syndrome causing chylothorax, especially in patients with undiagnosed nephrotic syndrome or patients non-compliant with their management. When evaluating a patient with chylothorax, providers should consider nephrotic syndrome in the differential diagnosis.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"82 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141359597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amal El-Ouakhoumi, H. Joulal, J. Yousfi, L. Benjilali, M. Zahlane, L. Essaadouni
Background: The psychiatric manifestations of Sjögren’s syndrome are often overlooked despite their prevalence. They can be revelatory of the disease and include anxiety, depression, dementia and, rarely, psychosis. Case description: We report a case of 18-year-old female in whom a major depressive syndrome revealed primary Sjögren’s disease, with a favourable outcome after treatment with rituximab. Conclusion: The diagnostic of Sjögren’s syndrome should be considered in patients who present with unexplained and refractory neuropsychiatric symptoms, even in the absence of sicca symptoms.
{"title":"Refractory depressive disorder as the first manifestation of adolescent Sjögren’s syndrome, successfully treated with rituximab","authors":"Amal El-Ouakhoumi, H. Joulal, J. Yousfi, L. Benjilali, M. Zahlane, L. Essaadouni","doi":"10.12890/2024_004621","DOIUrl":"https://doi.org/10.12890/2024_004621","url":null,"abstract":"Background: The psychiatric manifestations of Sjögren’s syndrome are often overlooked despite their prevalence. They can be revelatory of the disease and include anxiety, depression, dementia and, rarely, psychosis. Case description: We report a case of 18-year-old female in whom a major depressive syndrome revealed primary Sjögren’s disease, with a favourable outcome after treatment with rituximab. Conclusion: The diagnostic of Sjögren’s syndrome should be considered in patients who present with unexplained and refractory neuropsychiatric symptoms, even in the absence of sicca symptoms.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"37 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141358664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sierra Sullivan, Jesus Davalos, Jacob Nichols, Flint Smith, Tanis Welch, Alanna Woodward, Alyssa McLean
Brevibacillus laterosporus, an endospore-forming, aerobic, Gram-positive bacillus, is not only a potential biocontrol agent against plant pathogens but also a rare cause of human infection. Its pathogenicity in humans, especially in immunocompetent individuals, is still not fully understood. Skin infections caused by B. laterosporus are typically opportunistic, entering the skin through cuts, wounds, or other breaches in the skin’s protective barrier, as in the case presented here.
{"title":"Brevibacillus laterosporus osteomyelitis and hardware infection in a young, immunocompetent patient successfully treated by oral minocycline and ceftriaxone via a peripherally inserted central catheter for six weeks","authors":"Sierra Sullivan, Jesus Davalos, Jacob Nichols, Flint Smith, Tanis Welch, Alanna Woodward, Alyssa McLean","doi":"10.12890/2024_004622","DOIUrl":"https://doi.org/10.12890/2024_004622","url":null,"abstract":"Brevibacillus laterosporus, an endospore-forming, aerobic, Gram-positive bacillus, is not only a potential biocontrol agent against plant pathogens but also a rare cause of human infection. Its pathogenicity in humans, especially in immunocompetent individuals, is still not fully understood. Skin infections caused by B. laterosporus are typically opportunistic, entering the skin through cuts, wounds, or other breaches in the skin’s protective barrier, as in the case presented here.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"76 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141357956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Benedetta Marigliano Benedetta Marigliano, Luigi Scuro Luigi Scuro
Hyponatremia is a common complication in patients undergoing neurosurgery. If undiagnosed, it has a negative prognostic impact. The two dominant causes of refractory hyponatremia include syndrome of inappropriate ADH secretion (SIADH) and cerebral salt wasting syndrome (CSWS). Discrimination between the two types of disease is not always obvious. We present a case of undiagnosed chronic hyponatremia caused by CSWS after neurosurgery, which not only resulted in a longer hospital stay but also slowed the patient’s postoperative recovery. Meticulous clinical evaluation and the performance of appropriate laboratory tests are therefore essential not only for decisive treatment, but also for the establishment of comprehensive diagnostic algorithms that allow timely diagnosis and decisive therapy.
{"title":"The never-ending story of hyponatremia: a current problem to overcome","authors":"Benedetta Marigliano Benedetta Marigliano, Luigi Scuro Luigi Scuro","doi":"10.12890/2024_004609","DOIUrl":"https://doi.org/10.12890/2024_004609","url":null,"abstract":"Hyponatremia is a common complication in patients undergoing neurosurgery. If undiagnosed, it has a negative prognostic impact. The two dominant causes of refractory hyponatremia include syndrome of inappropriate ADH secretion (SIADH) and cerebral salt wasting syndrome (CSWS). Discrimination between the two types of disease is not always obvious. We present a case of undiagnosed chronic hyponatremia caused by CSWS after neurosurgery, which not only resulted in a longer hospital stay but also slowed the patient’s postoperative recovery. Meticulous clinical evaluation and the performance of appropriate laboratory tests are therefore essential not only for decisive treatment, but also for the establishment of comprehensive diagnostic algorithms that allow timely diagnosis and decisive therapy.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"120 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141362502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Geeta Bhagia, Nasir Hussain, Fnu Arty, Puneet Bansal, Robert Biederman
Background: Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. Case description: Case 1: A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms. Case 2: A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13–14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management. Conclusion: PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients.
{"title":"Parachute mitral valve and mid-aortic syndrome – unusual associations of Alagille syndrome","authors":"Geeta Bhagia, Nasir Hussain, Fnu Arty, Puneet Bansal, Robert Biederman","doi":"10.12890/2024_004545","DOIUrl":"https://doi.org/10.12890/2024_004545","url":null,"abstract":"Background: Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. Case description: Case 1: A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms. Case 2: A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13–14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management. Conclusion: PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"57 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140965245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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