Muhammad Saad Anwar, A. Khan, R. Dua, Fatima Kausar Nawaz, F. Khalid, Doantrang Du
Hamman syndrome is defined as dissection of air in mediastinum and skin fascia usually due to increased intrathoracic pressure. The air leak tends to make its way into pleural and pericardial layers; however, in rare instances air can also dissect into epidural spaces, regarded as pneumorrhachis. We present a case of a young male with a history of polysubstance abuse and e-vaping, who presented with symptoms of altered mental status. Given the concerning physical examination, a computed tomography of the chest was undertaken, which showed pneumothorax, pneumomediastinum and pneumorrhachis. The patient was closely monitored in the intensive care unit and improved after symptomatic management. The symptoms of pneumorrhachis depend on the volume and location of air in intracranial and intraspinal space. Although asymptomatic in our case, it is crucial for clinicians to be aware that pneumorrhachis with Hamman syndrome can potentially cause neurological deficits and cardiopulmonary arrest in severe cases due to increased intraspinal and intracranial hypertension, emphasising the need for close monitoring.
{"title":"Hamman syndrome with a rare feature of pneumorrhachis – an unusual complication of polysubstance abuse and e-vaping","authors":"Muhammad Saad Anwar, A. Khan, R. Dua, Fatima Kausar Nawaz, F. Khalid, Doantrang Du","doi":"10.12890/2024_004473","DOIUrl":"https://doi.org/10.12890/2024_004473","url":null,"abstract":"Hamman syndrome is defined as dissection of air in mediastinum and skin fascia usually due to increased intrathoracic pressure. The air leak tends to make its way into pleural and pericardial layers; however, in rare instances air can also dissect into epidural spaces, regarded as pneumorrhachis. We present a case of a young male with a history of polysubstance abuse and e-vaping, who presented with symptoms of altered mental status. Given the concerning physical examination, a computed tomography of the chest was undertaken, which showed pneumothorax, pneumomediastinum and pneumorrhachis. The patient was closely monitored in the intensive care unit and improved after symptomatic management. The symptoms of pneumorrhachis depend on the volume and location of air in intracranial and intraspinal space. Although asymptomatic in our case, it is crucial for clinicians to be aware that pneumorrhachis with Hamman syndrome can potentially cause neurological deficits and cardiopulmonary arrest in severe cases due to increased intraspinal and intracranial hypertension, emphasising the need for close monitoring.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"12 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141021996","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}
Fares Saliba, Jonathan Mina, Laurence Aoun, Georges Khattar, Elie Bou Sanayeh, Omar Mourad, Saif Abu Baker
Background: Cardiac sarcoidosis can cause a wide range of symptoms, including shortness of breath, chest pain, oedema, and fatal arrhythmias such as ventricular tachycardia (VT). Because the symptoms can be nonspecific, diagnosing cardiac sarcoidosis can be challenging. Treatment options may include corticosteroids to reduce inflammation, immunosuppressive drugs to prevent further damage, medications to control symptoms, ablation procedures, and defibrillators to prevent cardiac arrest. Case: A 60-year-old woman who has sarcoidosis affecting multiple organs including cardiac sarcoidosis, non-ischemic cardiomyopathy with reduced ejection fraction, and hypertension, was admitted with tachycardia, shortness of breath, and a recently fired automatic implantable cardioverter defibrillator (AICD). Three months prior, the patient was admitted for a syncopal episode and diagnosed with cardiac sarcoidosis through cardiac magnetic resonance imaging (MRI) and positron emission tomography (PET), which demonstrated active inflammation, and an AICD was implanted. During this admission, the patient had an episode of ventricular tachycardia and was treated with amiodarone and lidocaine. The patient received steroids, sacubitril/valsartan, and methotrexate. After 48 hours of observation, the patient was discharged without further events. Conclusion: Cardiac sarcoidosis is a rare but serious disease that can lead to life-threatening cardiac complications such as ventricular tachycardia. Early diagnosis and aggressive management are crucial for improving outcomes and preventing sudden cardiac death. AICD implantation as a secondary prevention in cardiac sarcoidosis might prevent cardiac arrest.
{"title":"Automatic implantable cardioverter defibrillator (AICD) implantation as secondary prevention of cardiac sarcoidosis-associated ventricular tachycardia","authors":"Fares Saliba, Jonathan Mina, Laurence Aoun, Georges Khattar, Elie Bou Sanayeh, Omar Mourad, Saif Abu Baker","doi":"10.12890/2024_004469","DOIUrl":"https://doi.org/10.12890/2024_004469","url":null,"abstract":" Background: Cardiac sarcoidosis can cause a wide range of symptoms, including shortness of breath, chest pain, oedema, and fatal arrhythmias such as ventricular tachycardia (VT). Because the symptoms can be nonspecific, diagnosing cardiac sarcoidosis can be challenging. Treatment options may include corticosteroids to reduce inflammation, immunosuppressive drugs to prevent further damage, medications to control symptoms, ablation procedures, and defibrillators to prevent cardiac arrest. Case: A 60-year-old woman who has sarcoidosis affecting multiple organs including cardiac sarcoidosis, non-ischemic cardiomyopathy with reduced ejection fraction, and hypertension, was admitted with tachycardia, shortness of breath, and a recently fired automatic implantable cardioverter defibrillator (AICD). Three months prior, the patient was admitted for a syncopal episode and diagnosed with cardiac sarcoidosis through cardiac magnetic resonance imaging (MRI) and positron emission tomography (PET), which demonstrated active inflammation, and an AICD was implanted. During this admission, the patient had an episode of ventricular tachycardia and was treated with amiodarone and lidocaine. The patient received steroids, sacubitril/valsartan, and methotrexate. After 48 hours of observation, the patient was discharged without further events. Conclusion: Cardiac sarcoidosis is a rare but serious disease that can lead to life-threatening cardiac complications such as ventricular tachycardia. Early diagnosis and aggressive management are crucial for improving outcomes and preventing sudden cardiac death. AICD implantation as a secondary prevention in cardiac sarcoidosis might prevent cardiac arrest.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"81 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141022080","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}
Laura Hernandez Perez, Aishwarya Chandra, R. Ali, Hari Sharma, Richard Miller, Muhammad Hussain
Introduction: Biloma is an uncommon form of liver abscess composed of bile usually associated with procedures of the biliary tree and gallbladder. Cholangitis can be acute or chronic, can result in partial or complete obstruction of the flow of bile. The infection of the bile is so common, that positive blood cultures are highly characteristic. In the case of a suppurative cholangitis with signs of sepsis treatment alone with antibiotics is usually not sufficient to achieve medical remission. Multiple hepatic abscesses are often present, and the mortality approaches 100% unless prompt endoscopic or surgical relief of the obstruction and drainage of infected bile are carried out. Endoscopic retrograde cholangiopancreatography ERCP with endoscopic sphincterotomy is the preferred initial procedure for both establishing a definitive diagnosis and providing effective therapy. Case description: We present the case of a 69-year-old female patient with complex chronic comorbidities who presented with acute cholangitis initially managed with endoscopically inserted stent and later complicated by sepsis and biloma formation. The bile was drained, and it showed an infection with Candida spp. requiring antifungal therapy. Conclusions: The failure to perform sphincterotomy in patients with suppurative cholangitis can contribute to the backflow of bile and worse outcomes.
{"title":"A rare case of biloma after ascending cholangitis and endoscopic retrograde cholangiopancreatography","authors":"Laura Hernandez Perez, Aishwarya Chandra, R. Ali, Hari Sharma, Richard Miller, Muhammad Hussain","doi":"10.12890/2024_004482","DOIUrl":"https://doi.org/10.12890/2024_004482","url":null,"abstract":"Introduction: Biloma is an uncommon form of liver abscess composed of bile usually associated with procedures of the biliary tree and gallbladder. Cholangitis can be acute or chronic, can result in partial or complete obstruction of the flow of bile. The infection of the bile is so common, that positive blood cultures are highly characteristic. In the case of a suppurative cholangitis with signs of sepsis treatment alone with antibiotics is usually not sufficient to achieve medical remission. Multiple hepatic abscesses are often present, and the mortality approaches 100% unless prompt endoscopic or surgical relief of the obstruction and drainage of infected bile are carried out. Endoscopic retrograde cholangiopancreatography ERCP with endoscopic sphincterotomy is the preferred initial procedure for both establishing a definitive diagnosis and providing effective therapy. Case description: We present the case of a 69-year-old female patient with complex chronic comorbidities who presented with acute cholangitis initially managed with endoscopically inserted stent and later complicated by sepsis and biloma formation. The bile was drained, and it showed an infection with Candida spp. requiring antifungal therapy. Conclusions: The failure to perform sphincterotomy in patients with suppurative cholangitis can contribute to the backflow of bile and worse outcomes.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"60 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141017791","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}
Muhammad Umer Riaz Gondal, Luke Rovenstine, F. Ansari, Z. Kiyani, Devi Parvathy Jyothi Ramachandran Nair, Toqeer Khan, Anthony Donato
Introduction: Blue rubber bleb nevus syndrome is a rare disorder of venous malformations, with around 200 cases reported. We present a case of Mycobacterium xenopi infection in a patient with blue rubber bleb nevus syndrome. Case Description: A 40-year-old female with blue rubber bleb nevus syndrome, asthma, and bronchiectasis came to the pulmonology clinic with shortness of breath and a cough. She was recently admitted for a bronchiectasis exacerbation but continued to have a worsening productive cough and fevers. The most recent CT scan of the chest showed interval stable right upper lobe fibrocavitary disease, demonstrating gradual progression over two years. She had occasional positive cultures for Mycobacterium Avium Complex and M. xenopi one year previously, assumed to be a colonizer and not treated. Most recent hospital cultures were negative for bacteria and an acid-fast bacilli smear. She was sent to the emergency department for bronchiectasis exacerbation and returned to the clinic six weeks later with two sputum cultures growing M. xenopi. It was decided to treat M. xenopi as this was likely the cause of her cavitary lung lesion and frequent infections. Azithromycin, rifampin, and sulfamethoxazole/trimethoprim were initiated. Intravenous amikacin was added later on. She finally had a right partial lung resection done after one year at an outside hospital. She was on and off antibiotics for M. xenopi for approximately three years with negative repeat cultures for non-tuberculous mycobacteria. Conclusion: Due to the high mortality of M. xenopi infections (which can be as high as 69%), treatment of at least twelve months is recommended. To our knowledge, this is the first reported case of M. xenopi in a patient with blue rubber bleb nevus syndrome.
{"title":"Navigating a complex case of Mycobacterium xenopi in a patient with blue rubber bleb nevus syndrome","authors":"Muhammad Umer Riaz Gondal, Luke Rovenstine, F. Ansari, Z. Kiyani, Devi Parvathy Jyothi Ramachandran Nair, Toqeer Khan, Anthony Donato","doi":"10.12890/2024_004530","DOIUrl":"https://doi.org/10.12890/2024_004530","url":null,"abstract":"Introduction: Blue rubber bleb nevus syndrome is a rare disorder of venous malformations, with around 200 cases reported. We present a case of Mycobacterium xenopi infection in a patient with blue rubber bleb nevus syndrome. Case Description: A 40-year-old female with blue rubber bleb nevus syndrome, asthma, and bronchiectasis came to the pulmonology clinic with shortness of breath and a cough. She was recently admitted for a bronchiectasis exacerbation but continued to have a worsening productive cough and fevers. The most recent CT scan of the chest showed interval stable right upper lobe fibrocavitary disease, demonstrating gradual progression over two years. She had occasional positive cultures for Mycobacterium Avium Complex and M. xenopi one year previously, assumed to be a colonizer and not treated. Most recent hospital cultures were negative for bacteria and an acid-fast bacilli smear. She was sent to the emergency department for bronchiectasis exacerbation and returned to the clinic six weeks later with two sputum cultures growing M. xenopi. It was decided to treat M. xenopi as this was likely the cause of her cavitary lung lesion and frequent infections. Azithromycin, rifampin, and sulfamethoxazole/trimethoprim were initiated. Intravenous amikacin was added later on. She finally had a right partial lung resection done after one year at an outside hospital. She was on and off antibiotics for M. xenopi for approximately three years with negative repeat cultures for non-tuberculous mycobacteria. Conclusion: Due to the high mortality of M. xenopi infections (which can be as high as 69%), treatment of at least twelve months is recommended. To our knowledge, this is the first reported case of M. xenopi in a patient with blue rubber bleb nevus syndrome.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"5 25","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141020490","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}
Ali Al-Tarbsheh, Ramez Halaseh, Veronica Williams, Kaila Schultz, Nydia Martinez
Lung underdevelopment is a rare congenital anomaly with variable clinical significance and presenting symptoms. It usually manifests during childhood. We present two cases of developmental lung anomaly subtypes and discuss clinical presentation and outcomes in such patient populations.
{"title":"Lung underdevelopment: case reports and a literature review","authors":"Ali Al-Tarbsheh, Ramez Halaseh, Veronica Williams, Kaila Schultz, Nydia Martinez","doi":"10.12890/2024_004421","DOIUrl":"https://doi.org/10.12890/2024_004421","url":null,"abstract":"Lung underdevelopment is a rare congenital anomaly with variable clinical significance and presenting symptoms. It usually manifests during childhood. We present two cases of developmental lung anomaly subtypes and discuss clinical presentation and outcomes in such patient populations.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"51 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140367879","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}
We report a rare yet successful utilisation of anti-CD20 therapy using rituximab for treatment of a case of IgG4-related mastitis proven by clinical, serological, and histopathological evidence. This was affecting a mid-aged female who was referred to the rheumatology clinic by the breast surgeons to help assessing for the possibility of an underlying inflammatory process involving the breast tissue unilaterally. The clinical course was apparently complex with an onset of an induration in the right lateral superior quadrant of the breast with mild discomfort and heaviness sensation. This increased over a course of 2 weeks before presentation to the general surgery clinic. Subsequent investigations confirmed that the case was IgG4-related mastitis and a trial of steroids and disease modifying anti-rheumatic drugs (DMARDs) was partially helpful, but not to a full degree, mandating the utilisation of a more advanced mode of therapy, so rituximab was selected.
{"title":"A rare case of IgG4-related disease causing inflammatory breast mass successfully treated with anti-CD20 biological therapy: a discussion of clinical case with literature review","authors":"Sufian Rifaei, Shahd Etoom, Mahmoud Al-Balas","doi":"10.12890/2024_004450","DOIUrl":"https://doi.org/10.12890/2024_004450","url":null,"abstract":"We report a rare yet successful utilisation of anti-CD20 therapy using rituximab for treatment of a case of IgG4-related mastitis proven by clinical, serological, and histopathological evidence. This was affecting a mid-aged female who was referred to the rheumatology clinic by the breast surgeons to help assessing for the possibility of an underlying inflammatory process involving the breast tissue unilaterally. The clinical course was apparently complex with an onset of an induration in the right lateral superior quadrant of the breast with mild discomfort and heaviness sensation. This increased over a course of 2 weeks before presentation to the general surgery clinic. Subsequent investigations confirmed that the case was IgG4-related mastitis and a trial of steroids and disease modifying anti-rheumatic drugs (DMARDs) was partially helpful, but not to a full degree, mandating the utilisation of a more advanced mode of therapy, so rituximab was selected.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"16 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140368403","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}
M. A. Gharbi, F. Limaiem, Khaled B. Romdhane, Anis Tebourbi, R. Bouzidi, M. Nefiss
Background: Patients with neurofibromatosis type I (NF1) have an increased risk of developing soft-tissue sarcomas, particularly those related to the nervous system. Epithelioid sarcoma (ES) is an exceptionally rare subtype of soft-tissue sarcoma, with limited knowledge about its clinical presentation and optimal management in NF1. This report aims to provide insights into the characteristics and outcomes of ES in NF1 patients. Case description: A 37-year-old man with a history of NF1 presented with a progressively worsening mass on his right inner thigh. An MRI scan revealed a well-defined tissue mass originating from the adductor magnus muscle, later confirmed as ES through histopathology and immunohistochemistry. Considering poor local and general prognosis, the multidisciplinary team recommended salvage hip disarticulation, however the patient refused and opted for palliative marginal resection to reduce the tumour size. The patient’s condition declined rapidly, and he succumbed six days after the surgery. Conclusion: This case highlights the rarity of ES in NF1 patients and underscores the potential for malignant tumour development in this population. Further research is needed to improve our understanding and management of sarcomas in the context of NF1.
{"title":"Uncommon thigh mass in neurofibromatosis type 1: unveiling aggressive epithelioid sarcoma","authors":"M. A. Gharbi, F. Limaiem, Khaled B. Romdhane, Anis Tebourbi, R. Bouzidi, M. Nefiss","doi":"10.12890/2024_004432","DOIUrl":"https://doi.org/10.12890/2024_004432","url":null,"abstract":"Background: Patients with neurofibromatosis type I (NF1) have an increased risk of developing soft-tissue sarcomas, particularly those related to the nervous system. Epithelioid sarcoma (ES) is an exceptionally rare subtype of soft-tissue sarcoma, with limited knowledge about its clinical presentation and optimal management in NF1. This report aims to provide insights into the characteristics and outcomes of ES in NF1 patients. Case description: A 37-year-old man with a history of NF1 presented with a progressively worsening mass on his right inner thigh. An MRI scan revealed a well-defined tissue mass originating from the adductor magnus muscle, later confirmed as ES through histopathology and immunohistochemistry. Considering poor local and general prognosis, the multidisciplinary team recommended salvage hip disarticulation, however the patient refused and opted for palliative marginal resection to reduce the tumour size. The patient’s condition declined rapidly, and he succumbed six days after the surgery. Conclusion: This case highlights the rarity of ES in NF1 patients and underscores the potential for malignant tumour development in this population. Further research is needed to improve our understanding and management of sarcomas in the context of NF1.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"70 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140371480","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}
Schwann cells are found in the peripheral nervous system and can sometimes appear as benign hamartoma lesions in various parts of the body. Although rare in the gastrointestinal (GI) tract, they have been observed in the colon. Recently, mucosal Schwann cell hamartomas of the GI tract have been studied, and it was discovered that they had yet to be investigated up to 2009. In this context, we present the case of a 60-year-old man who was found to have lesions in the transverse colon during a routine colonoscopy. No further investigations were conducted since these lesions have not been associated with any risk of malignancy transformation and have not been linked to any inherited syndromes.
{"title":"Mucosal Schwann cell hamartoma on screening colonoscopy: an unusual finding","authors":"Haidar Hussain Barjas, Yousef M. Yahia, Joud Abuodeh, Farah J.N. Assaf, Adham Ammar","doi":"10.12890/2024_004461","DOIUrl":"https://doi.org/10.12890/2024_004461","url":null,"abstract":"Schwann cells are found in the peripheral nervous system and can sometimes appear as benign hamartoma lesions in various parts of the body. Although rare in the gastrointestinal (GI) tract, they have been observed in the colon. Recently, mucosal Schwann cell hamartomas of the GI tract have been studied, and it was discovered that they had yet to be investigated up to 2009. In this context, we present the case of a 60-year-old man who was found to have lesions in the transverse colon during a routine colonoscopy. No further investigations were conducted since these lesions have not been associated with any risk of malignancy transformation and have not been linked to any inherited syndromes.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"65 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140371612","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: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4. Currently, this condition is diagnosed by a mass spectrometry technique in neonatal screening, which has been implemented in Portugal since 2007; births before that were not screened for this entity. Case description: We present a case of a 23-year-old woman referred to the internal medicine and neurology departments with a history of two hospital admissions for rhabdomyolysis at the age of 18, consanguineous parents, learning difficulties and multiple falls since the age of 8. In addition, the patient also had behavioural changes so she had psychological counselling at school, but lacked family support. Neurological examination showed mild proximal paraparesis, and spastic and paraparetic gait. The aetiological study revealed a pathological variant in homozygosity ARG1 and increased blood levels of arginine. Therefore, the diagnosis of hyperargininemia was confirmed. Conclusions: Compared to other urea cycle disorders, hyperargininemia is the rarest one. It is important to recognise the characteristic clinical features and diagnose it early because a favourable outcome can be achieved with appropriate treatment. This case shows a delayed diagnosis of hyperargininemia and highlights the importance of the internist’s role in diagnosing rare diseases.
{"title":"Hyperargininemia: a rare diagnosis in adulthood","authors":"Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar","doi":"10.12890/2024_004379","DOIUrl":"https://doi.org/10.12890/2024_004379","url":null,"abstract":"Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4. Currently, this condition is diagnosed by a mass spectrometry technique in neonatal screening, which has been implemented in Portugal since 2007; births before that were not screened for this entity. Case description: We present a case of a 23-year-old woman referred to the internal medicine and neurology departments with a history of two hospital admissions for rhabdomyolysis at the age of 18, consanguineous parents, learning difficulties and multiple falls since the age of 8. In addition, the patient also had behavioural changes so she had psychological counselling at school, but lacked family support. Neurological examination showed mild proximal paraparesis, and spastic and paraparetic gait. The aetiological study revealed a pathological variant in homozygosity ARG1 and increased blood levels of arginine. Therefore, the diagnosis of hyperargininemia was confirmed. Conclusions: Compared to other urea cycle disorders, hyperargininemia is the rarest one. It is important to recognise the characteristic clinical features and diagnose it early because a favourable outcome can be achieved with appropriate treatment. This case shows a delayed diagnosis of hyperargininemia and highlights the importance of the internist’s role in diagnosing rare diseases.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"134 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140369701","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}
María Martín-Galache, Ana María Escalona-Gil, Luis Posado-Domínguez, Alejandro Jiménez-Domínguez, Alicia Arévalo-Cenzual, Francisco Javier López-Ávila, Eduardo Consuegra-Llapur
Introduction: Kaposi’s varicelliform eruption (KVE), also known as eczema herpeticum or eczema vaccinatum, is an acute dermatosis that affects patients with chronic dermatopathies. The diagnosis is primarily clinical and is characterised by the presence of a vesicular exanthema on physical examination. The exanthema subsequently evolves into crusted lesions with typical circular ulcerations in ‘punched-out’ areas on the skin affected by the underlying dermatopathy. Case description: We present the case of a 6-year-old patient who presented to the Paediatric Emergency department with skin lesions consistent with eczema herpeticum. The patient’s management was initially outpatient; however, due to the slow progression of the condition, hospitalisation and intravenous antiviral treatment were initiated. Discussion: KVE affects patients with chronic dermatoses, especially atopic dermatitis. It is important to know the clinical presentation for an early suspicion. KVE is a medical emergency that requires prompt diagnosis and treatment. It can progress to secondary viraemia, which can be fatal in up to 10% of immunocompetent individuals and up to 50% of immunocompromised individuals. It is important to be aware of this condition and to start early treatment with antivirals, especially given the high prevalence of atopic dermatitis in our population. This condition is one of the most serious complications that can occur in these patients.
{"title":"Kaposi’s varicelliform eruption: a potentially life-threatening complication of atopic dermatitis","authors":"María Martín-Galache, Ana María Escalona-Gil, Luis Posado-Domínguez, Alejandro Jiménez-Domínguez, Alicia Arévalo-Cenzual, Francisco Javier López-Ávila, Eduardo Consuegra-Llapur","doi":"10.12890/2024_004392","DOIUrl":"https://doi.org/10.12890/2024_004392","url":null,"abstract":"Introduction: Kaposi’s varicelliform eruption (KVE), also known as eczema herpeticum or eczema vaccinatum, is an acute dermatosis that affects patients with chronic dermatopathies. The diagnosis is primarily clinical and is characterised by the presence of a vesicular exanthema on physical examination. The exanthema subsequently evolves into crusted lesions with typical circular ulcerations in ‘punched-out’ areas on the skin affected by the underlying dermatopathy. Case description: We present the case of a 6-year-old patient who presented to the Paediatric Emergency department with skin lesions consistent with eczema herpeticum. The patient’s management was initially outpatient; however, due to the slow progression of the condition, hospitalisation and intravenous antiviral treatment were initiated. Discussion: KVE affects patients with chronic dermatoses, especially atopic dermatitis. It is important to know the clinical presentation for an early suspicion. KVE is a medical emergency that requires prompt diagnosis and treatment. It can progress to secondary viraemia, which can be fatal in up to 10% of immunocompetent individuals and up to 50% of immunocompromised individuals. It is important to be aware of this condition and to start early treatment with antivirals, especially given the high prevalence of atopic dermatitis in our population. This condition is one of the most serious complications that can occur in these patients.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"123 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140370223","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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