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Longitudinal management in Duchenne muscular dystrophy with exon 63 duplication. 杜氏肌营养不良症外显子 63 重复的纵向管理。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-260706
Inggar Armytasari, Retno Sutomo, Agung Triono
{"title":"Longitudinal management in Duchenne muscular dystrophy with exon 63 duplication.","authors":"Inggar Armytasari, Retno Sutomo, Agung Triono","doi":"10.1136/bcr-2024-260706","DOIUrl":"https://doi.org/10.1136/bcr-2024-260706","url":null,"abstract":"<p><p>A boy with nonambulatory Duchenne muscular dystrophy (DMD) tested positive for exon 63 duplication and exhibited intellectual disability, overweight and dyslipidaemia. The patient underwent a comprehensive multidisciplinary approach involving pharmacological and non-pharmacological interventions. Despite challenges, such as socioeconomic constraints and limited access to advanced therapies, the patient received tailored care. The management included prednisone medication, dietary modifications and psychological support. The patient's journey highlighted the complex interplay of medical and psychosocial factors affecting DMD patients in resource-limited settings. Regular monitoring and the involvement of the patient's family in a peer group were arranged to improve overall quality of life. The case underscores the need for accessible and holistic care for DMD patients, addressing both medical and psychosocial challenges.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364311","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}
引用次数: 0
Correction: A reminder of the classical biochemical sequelae of adult gastric outlet obstruction. 更正：提醒您注意成人胃出口梗阻的经典生化后遗症。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr.05.2010.2978corr1
{"title":"Correction: A reminder of the classical biochemical sequelae of adult gastric outlet obstruction.","authors":"","doi":"10.1136/bcr.05.2010.2978corr1","DOIUrl":"https://doi.org/10.1136/bcr.05.2010.2978corr1","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364307","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}
引用次数: 0
Galactosialidosis presenting as non-immune hydrops. 表现为非免疫性水肿的半乳糖醛酸症。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-260906
Shivani Bajpai, Kausik Mandal, Kirti Naranje, Anita Singh
{"title":"Galactosialidosis presenting as non-immune hydrops.","authors":"Shivani Bajpai, Kausik Mandal, Kirti Naranje, Anita Singh","doi":"10.1136/bcr-2024-260906","DOIUrl":"https://doi.org/10.1136/bcr-2024-260906","url":null,"abstract":"<p><p>Hydrops fetalis is an abnormal accumulation of fluid in two or more foetal compartments which is easily detected using prenatal ultrasonography. It can be categorised into immune and non-immune. The non-immune hydrops can result from various aetiologies, including cardiovascular, respiratory, genitourinary infections, chromosomal anomalies and metabolic causes. The metabolic causes, including lysosomal storage disorders (LSD), are increasingly being recognised as the causes of non-immune hydrops. The hydrops fetalis associated with metabolic disorders is usually severe with huge ascites, hepatosplenomegaly, thick skin, renal abnormalities, increased nuchal translucency, renal abnormalities and skeletal deformities. In this report, we describe a case of LSD, that is, galactosialidosis presenting as non-immune hydrops and its diagnosis. In utero diagnosis of the disorder without an index case is challenging. The definitive diagnosis is important for planning and management of future conceptions.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364309","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}
引用次数: 0
Thiamine-responsive megaloblastic anaemia in a young adult with acute pancytopenia. 一名患有急性全血细胞减少症的年轻成人出现硫胺素反应性巨幼红细胞贫血。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-261435
Michael Alan Pascoe, Alan M Hall, Adam Gray
{"title":"Thiamine-responsive megaloblastic anaemia in a young adult with acute pancytopenia.","authors":"Michael Alan Pascoe, Alan M Hall, Adam Gray","doi":"10.1136/bcr-2024-261435","DOIUrl":"https://doi.org/10.1136/bcr-2024-261435","url":null,"abstract":"<p><p>Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient. Treatment with 100 mg of thiamine oral supplementation daily led to the complete resolution of his pancytopenia. It is important to consider a genetic cause of pancytopenia in a young person. Early recognition and diagnosis of TRMA can be life-altering given early treatment can reduce insulin requirements and resolve anaemia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364335","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}
引用次数: 0
Bone cement implantation syndrome: the role of echocardiography and multidisciplinarity. 骨水泥植入综合征：超声心动图和多学科的作用。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2024-261500
Tiago Castro Pinto, Daniel Seabra, Ana Castro, Carolina Guedes
{"title":"Bone cement implantation syndrome: the role of echocardiography and multidisciplinarity.","authors":"Tiago Castro Pinto, Daniel Seabra, Ana Castro, Carolina Guedes","doi":"10.1136/bcr-2024-261500","DOIUrl":"https://doi.org/10.1136/bcr-2024-261500","url":null,"abstract":"<p><p>Bone cement implantation syndrome (BCIS) is a potentially serious complication after joint replacement surgery, resulting from bone marrow debris and cement embolisation, culminating in pulmonary and cardiovascular collapse. Echocardiography aids in diagnosis and management. We present a woman in her 80s with grade II BCIS. CT angiogram was inconclusive, but echocardiography revealed hyperechogenic material and right ventricular dysfunction, confirming the diagnosis. She received cardiovascular and respiratory support in a level II intensive care unit, showing full recovery of the right ventricle function when it was later reassessed. This potentially fatal condition is successfully managed if recognised early with adequate supportive care. Echocardiography might guide the diagnosis, consolidating supportive measures.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364305","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}
引用次数: 0
Lipochoristoma: a rare cause of unilateral hearing loss. 脂肪瘤：单侧听力损失的罕见病因。
IF 0.6
BMJ Case Reports Pub Date : 2024-10-01 DOI: 10.1136/bcr-2023-259086
Krupali Brahmbhatt, Sreemathi Harieaswar, Sudip Das
{"title":"Lipochoristoma: a rare cause of unilateral hearing loss.","authors":"Krupali Brahmbhatt, Sreemathi Harieaswar, Sudip Das","doi":"10.1136/bcr-2023-259086","DOIUrl":"https://doi.org/10.1136/bcr-2023-259086","url":null,"abstract":"<p><p>We present our single-centre experience of two cases of lipochoristoma, a rare lesion causing unilateral hearing loss. Differential diagnoses include the more common vestibular schwannoma, haemangioma and meningioma. Diagnosis was confirmed with fat suppression sequences on MRI. Management of both patients was with serial imaging, under the guidance of neuro-otology multidisciplinary team, due to the slow and typically non-aggressive progression of this lesion.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364310","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}
引用次数: 0
Hepatic sinusoidal obstruction syndrome after immune-checkpoint-inhibitor therapy: when the liver sends SOS. 免疫检查点抑制剂治疗后的肝窦阻塞综合征：当肝脏发出 SOS 时。
IF 0.6
BMJ Case Reports Pub Date : 2024-09-30 DOI: 10.1136/bcr-2024-260066
Philipp Kasper, Anne Kristin Fischer, Jan Christoph Schumacher
{"title":"Hepatic sinusoidal obstruction syndrome after immune-checkpoint-inhibitor therapy: when the liver sends SOS.","authors":"Philipp Kasper, Anne Kristin Fischer, Jan Christoph Schumacher","doi":"10.1136/bcr-2024-260066","DOIUrl":"https://doi.org/10.1136/bcr-2024-260066","url":null,"abstract":"<p><p>A woman in her 50s presented to the hospital with new-onset jaundice and ascites. Her medical history included a melanoma of the right shoulder, diagnosed 8 months before, for which she had received four cycles of ipilimumab and nivolumab. Due to the oncological history and previous immunotherapy, an immune-checkpoint-inhibitor (ICI)-induced hepatitis was suspected, and a high-dose corticosteroid treatment was initiated. However, as there was no improvement in the liver function tests, a percutaneous liver biopsy was performed for further diagnostic clarification. Histological analysis ultimately identified a hepatic sinusoidal obstruction syndrome (SOS) as the underlying cause of liver dysfunction and portal hypertension. ICI-related hepatic SOS represents an extremely rare adverse event related to immunotherapy that should be considered in all patients with treatment-refractory ICI-related hepatotoxicity and clinical signs of portal hypertension.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341378","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}
引用次数: 0
Baclofen overdose with unique cardiovascular effects. 巴氯芬过量会对心血管产生独特的影响。
IF 0.6
BMJ Case Reports Pub Date : 2024-09-30 DOI: 10.1136/bcr-2024-260869
Cain M Dudek, Christopher H Yee, Max Greenberg, Stewart C McCarver
{"title":"Baclofen overdose with unique cardiovascular effects.","authors":"Cain M Dudek, Christopher H Yee, Max Greenberg, Stewart C McCarver","doi":"10.1136/bcr-2024-260869","DOIUrl":"10.1136/bcr-2024-260869","url":null,"abstract":"<p><strong>Case presentation: </strong>A woman in her 70s was found unresponsive and brought to our hospital with respiratory distress, cardiomyopathy and volatile alternation between hypotension and hypertension. She was intubated and admitted to intensive care for supportive treatment of suspected baclofen overdose. She gradually recovered and was discharged 10 days after presentation. Laboratory testing confirmed baclofen overdose.</p><p><strong>Conclusion: </strong>This case illustrates the classic features of baclofen toxicity but also includes unusual features including ST elevations on ECG and apical ballooning on echocardiogram. Lack of immediate laboratory testing can be a significant diagnostic challenge, so a high index of suspicion is needed to definitively diagnose baclofen overdose. Furthermore, haemodynamic volatility requires careful and frequent re-evaluation of treatment, so early recognition and anticipation of complications are essential for effective management of this life-threatening condition.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11448130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341467","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}
引用次数: 0
Monostotic femoral Caffey disease masquerading as Ewing sarcoma. 伪装成尤文肉瘤的单股股骨卡菲病。
IF 0.6
BMJ Case Reports Pub Date : 2024-09-30 DOI: 10.1136/bcr-2024-261790
Madhuri Kumari, Surya Nandan Prasad, Anamika Meena, Kundhan Pavan Kumar Tekkali
{"title":"Monostotic femoral Caffey disease masquerading as Ewing sarcoma.","authors":"Madhuri Kumari, Surya Nandan Prasad, Anamika Meena, Kundhan Pavan Kumar Tekkali","doi":"10.1136/bcr-2024-261790","DOIUrl":"https://doi.org/10.1136/bcr-2024-261790","url":null,"abstract":"<p><p>We describe a rare case of monostotic infantile cortical hyperostosis (Caffey disease) involving the left femur of an infant, who presented with recent onset left thigh swelling, following vaccination. Radiological workup showed a lamellated periosteal reaction involving the left femoral diaphysis on radiographs masquerading as a bone tumour. The child underwent MRI of the left thigh, which showed extensive muscle oedema without any abnormal soft-tissue proliferation, marrow signal alteration, cortical breach or collection. The follow-up radiograph showed exuberant new bone formation in the second week. The patient was given symptomatic treatment and the parents were counselled. The child recovered well with gradual resolution of symptoms and bony remodelling on a 6-month follow-up radiograph. Here, we describe the serial changes on the radiographs in Caffey disease with monostotic involvement and the role of MRI in difficult cases to differentiate it from other common mimickers, such as infections and neoplasia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341384","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}
引用次数: 0
Sonographic changes of adrenal haemorrhage in a neonate. 新生儿肾上腺出血的声像图变化。
IF 0.6
BMJ Case Reports Pub Date : 2024-09-30 DOI: 10.1136/bcr-2024-261823
Kazumasa Zensho, Yukiko Yamawaki, Masamichi Kubota, Nobuyoshi Mimaki
{"title":"Sonographic changes of adrenal haemorrhage in a neonate.","authors":"Kazumasa Zensho, Yukiko Yamawaki, Masamichi Kubota, Nobuyoshi Mimaki","doi":"10.1136/bcr-2024-261823","DOIUrl":"https://doi.org/10.1136/bcr-2024-261823","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341392","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}
引用次数: 0
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