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Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-262013
Anu Tresa, Rahul Jahagirdar, Ruma Deshpande, Chaitanya Datar
{"title":"Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.","authors":"Anu Tresa, Rahul Jahagirdar, Ruma Deshpande, Chaitanya Datar","doi":"10.1136/bcr-2024-262013","DOIUrl":"10.1136/bcr-2024-262013","url":null,"abstract":"<p><p>Familial glucocorticoid deficiency disorders are a group of autosomal recessive disorders with variable phenotypes. Early diagnosis aids with effective treatment. This case discusses a couple who had come with a history of neonatal deaths and a spontaneous abortion for genetic counselling regarding the current pregnancy. On obtaining relevant family and antenatal history, a targeted genetic testing showed that the fetus had a homozygous melanocortin-2 receptor (<i>MC2R</i>) gene mutation. Subsequently, the baby was delivered late preterm, with hyperpigmentation. Hydrocortisone was initiated early and post-treatment, and the baby showed stable electrolytes and did not develop hypoglycaemia. The case emphasises the importance of early genetic testing and counselling, especially in consanguineous couples, for better disease management. A multidisciplinary approach, involving paediatric genetics, endocrinology and neonatology, was crucial in achieving a positive outcome. This case highlights the potential of next-generation sequencing tools in identifying hereditary adrenal insufficiency, enabling timely intervention and improved patient care.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432549","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
A malnourished child with metastatic tuberculous abscesses.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-264768
Marco Persoglia, Massimo Maschio, Caterina Di Cecco, Egidio Barbi
{"title":"A malnourished child with metastatic tuberculous abscesses.","authors":"Marco Persoglia, Massimo Maschio, Caterina Di Cecco, Egidio Barbi","doi":"10.1136/bcr-2024-264768","DOIUrl":"https://doi.org/10.1136/bcr-2024-264768","url":null,"abstract":"<p><p>Gummatous tuberculosis, also known as metastatic tuberculous abscesses, represents an uncommon manifestation of cutaneous tuberculosis, marked by the presence of persistent subcutaneous abscesses. We report the case of a malnourished Malagasy child with no family history of tuberculosis, presenting with chronic skin lesions lasting about a year, alongside systemic symptoms such as low-grade fevers, night sweats and weight loss. Despite initial negative microscopy for Koch's bacilli, the diagnosis was confirmed by GeneXpert PCR analysis. This case highlights the diagnostic difficulties associated with tuberculosis in high-burden countries. The chronicity of the skin lesions, the endemicity of tuberculosis, the child's immunosuppression from malnutrition and systemic symptoms raised clinical suspicion. Chronic abscesses with unusual presentations should prompt consideration of gummatous tuberculosis, particularly in endemic areas, where diverse and prolonged cutaneous manifestations warrant thorough evaluation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432545","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
Unusual scrotal infection in a neonate.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-263191
Safaa Mohamed Gasim Ali, Ahmed Farouk El-Dakrouri, Farheen S Ahmed
{"title":"Unusual scrotal infection in a neonate.","authors":"Safaa Mohamed Gasim Ali, Ahmed Farouk El-Dakrouri, Farheen S Ahmed","doi":"10.1136/bcr-2024-263191","DOIUrl":"https://doi.org/10.1136/bcr-2024-263191","url":null,"abstract":"<p><p>We report a term baby who presented soon after delivery with bilateral tender scrotal swelling with skin discolouration, which was subsequently diagnosed as rapidly progressive cellulitis. The scrotal swelling was treated as cellulitis with a broad spectrum of antibiotics, covering anaerobes, considering the absence of signs and ultrasonographic features of testicular torsion. He also had meconium aspiration pneumonia, complicated by pulmonary hypertension, and required non-invasive oxygen supplementation and intravenous antibiotics. The swelling slowly improved over 2 weeks without complications. In conclusion, early diagnosis and proper antibiotic treatment are essential to prevent the spread of infection and serious complications. .</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432604","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
Fungal dacryops: a rare presentation.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-261168
Lavanya Maddi, Dilip Kumar Mishra, Swathi Kaliki
{"title":"Fungal dacryops: a rare presentation.","authors":"Lavanya Maddi, Dilip Kumar Mishra, Swathi Kaliki","doi":"10.1136/bcr-2024-261168","DOIUrl":"https://doi.org/10.1136/bcr-2024-261168","url":null,"abstract":"<p><p>A woman in her late 40s presented with a cystic lesion in the left lacrimal gland for 1 year and associated pain in the past 3 months. On examination, the patient had cystic lesion in the left lacrimal gland region without any signs of inflammation. An initial provisional diagnosis of simple dacryops of the left eye was made, and the lesion was observed. On review at 1 month, the patient complained of persistent swelling and dull pain in the left eye. Excisional biopsy of the lesion was planned. Intraoperatively, the cyst ruptured during surgery, and yellowish, granule-like concretions were noted within the cyst. The cyst wall along with contents was excised and sent for histopathological examination and microbiology analysis. Microbiological analysis revealed fungal filaments (<i>Aspergillus fumigatus</i>). Histopathological examination confirmed cyst wall with fungal colonies. Postoperatively, the patient is doing well without any evidence of recurrence at a follow-up period of 6 months.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432553","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
Superior mesenteric artery syndrome and nutcracker syndrome in a patient with pectus carinatum and spine scoliosis.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-264276
Vikram Saini, Mahendra Pratap Singh, Ujjwal Bansal, Lokesh Lalan
{"title":"Superior mesenteric artery syndrome and nutcracker syndrome in a patient with pectus carinatum and spine scoliosis.","authors":"Vikram Saini, Mahendra Pratap Singh, Ujjwal Bansal, Lokesh Lalan","doi":"10.1136/bcr-2024-264276","DOIUrl":"https://doi.org/10.1136/bcr-2024-264276","url":null,"abstract":"<p><p>A male patient with pectus carinatum and spine scoliosis deformity presented with a 7-day history of recurrent episodes of nausea, vomiting and abdominal distention. He reported a weight loss of about 10 kg in the last 6 months and an altered eating habit. The contrast-enhanced CT of the abdomen revealed a significant compression of the third part of the duodenum, reduced the aortomesenteric distance and left renal vein compression between the abdominal aorta and superior mesenteric artery. A diagnosis of superior mesenteric artery syndrome with nutcracker syndrome was made. The patient's symptoms persisted on conservative management, and surgical correction was planned where a side-to-side anastomosis of the second part of the duodenum and jejunum was performed. The nutcracker syndrome was managed conservatively with ongoing surveillance. The patient did well postoperatively and was discharged without any complications. Until 4 months of follow-up, his weight improved, and urine examination did not show haematuria.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432598","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
Herpes simplex-2 meningitis presenting with headache in pregnancy.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-263881
Louise Dunphy, Premalatha Ulaganathan, Samira Furara
{"title":"Herpes simplex-2 meningitis presenting with headache in pregnancy.","authors":"Louise Dunphy, Premalatha Ulaganathan, Samira Furara","doi":"10.1136/bcr-2024-263881","DOIUrl":"https://doi.org/10.1136/bcr-2024-263881","url":null,"abstract":"<p><p>Herpes simplex virus (HSV) is a double-stranded DNA virus, whose primary target is epithelial cells. It is disseminated by hematogenous spread. HSV type 2 (HSV-2) usually causes genital infection with mucocutaneous lesions or it may be asymptomatic. HSV-2 is also an important cause of meningitis either during primary infection or by (recurrent) reactivation of dormant virus within the central nervous system. The authors present the case of a nulliparous woman in her mid-20s presenting to the emergency department at 22 weeks' gestation with acute onset of headache. CT of the head and magnetic resonance angiography (MRA) were unremarkable. She received broad-spectrum antimicrobial therapy for suspected meningitis. Her cerebrospinal fluid culture detected HSV-2. She denied a history of oral or genital herpes. She commenced treatment with intravenous acyclovir 10 mg/kg 8 hourly for 7 days. She responded clinically and her headache resolved. There remains a relative dearth of cases of HSV-2 meningitis reported in the literature hence making pregnancy management and delivery planning challenging for obstetricians. This case demonstrates the importance of the multidisciplinary team involvement of genitourinary medicine and sexual health physicians, obstetricians and neonatologists with formal documentation of a birth and postnatal care plan.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432555","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
Toxic epidermal necrolysis caused by vemurafenib in a metastatic malignant melanoma.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-263057
Duarte Flor, Mariana Pedroso, Inês Coutinho, Margarida Gonçalo
{"title":"Toxic epidermal necrolysis caused by vemurafenib in a metastatic malignant melanoma.","authors":"Duarte Flor, Mariana Pedroso, Inês Coutinho, Margarida Gonçalo","doi":"10.1136/bcr-2024-263057","DOIUrl":"https://doi.org/10.1136/bcr-2024-263057","url":null,"abstract":"<p><p>Combination targeted therapy with vemurafenib and cobimetinib has proved effective for metastatic melanoma. However, severe cutaneous adverse reactions have been reported, most frequently not only drug rash with eosinophilia and systemic syndrome but also rare Stevens-Johnson syndrome and toxic epidermal necrolysis (TEN) cases. We report a case of life-threatening episode of TEN following metastatic melanoma targeted therapy with vemurafenib and cobimetinib, with a long but successful patient recovery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432600","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
Coeliac disease masquerading as macroamylasaemia.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-262400
Bashayer Al-Rufayi, Abdulmalik M Alsabban, Abbas A Zagnoon
{"title":"Coeliac disease masquerading as macroamylasaemia.","authors":"Bashayer Al-Rufayi, Abdulmalik M Alsabban, Abbas A Zagnoon","doi":"10.1136/bcr-2024-262400","DOIUrl":"10.1136/bcr-2024-262400","url":null,"abstract":"<p><p>Macroamylasaemia (MA) is a biochemical disorder characterised by elevated serum amylase activity, resulting from the circulation of a macromolecular complex of amylase bound to a serum component, often an immunoglobulin. The increased molecular weight of this complex prevents the normal renal excretion of the enzyme. A few cases of adult patients with coeliac disease (CD) and MA have been reported, in which the biochemical disorder resolved after treatment with a gluten-free diet. However, in other cases, this resolution did not occur. Here, we report a case of CD masquerading as recurrent pancreatitis due to the presence of MA.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432547","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
Fetus in fetu: the importance of autopsy in uncovering hidden abnormalities.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-263111
Umamaheswari Gurusamy, Vartika Goel, Shyama Devadasan
{"title":"Fetus in fetu: the importance of autopsy in uncovering hidden abnormalities.","authors":"Umamaheswari Gurusamy, Vartika Goel, Shyama Devadasan","doi":"10.1136/bcr-2024-263111","DOIUrl":"https://doi.org/10.1136/bcr-2024-263111","url":null,"abstract":"<p><p>Fetus in fetu (FIF) is a rare anomaly of embryogenesis in which a malformed parasitic twin is found within the body of the normally developed host twin. It has a reported incidence of 1 per 500 000 births with a 2:1 male predominance. The authors present a unique case of FIF, where autopsy investigation played a pivotal role in identifying this exceptionally rare anomaly, rarely documented in the literature. A primigravida woman in her early 20s was diagnosed with FIF at 13+3 weeks of gestation. She opted for medical termination of her pregnancy. The postmortem examination confirmed the diagnosis of FIF. Malformations in both fetuses, namely, partial urorectal septum malformation in the parasitic twin and heterotaxy syndrome in the host twin, were unmasked by fetal autopsy.The significance of autopsy examination in FIF cases is underscored by our case, as it facilitates the diagnosis of this rare entity and the reporting of congenital anomalies in the aforementioned.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432551","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
Intramyometrial ectopic pregnancy masquerading as intramural leiomyoma: a diagnostic challenge.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-16 DOI: 10.1136/bcr-2024-262218
Hephzibah Rani, Malashree, Ramesh Kumar, Dinesh Shastri
{"title":"Intramyometrial ectopic pregnancy masquerading as intramural leiomyoma: a diagnostic challenge.","authors":"Hephzibah Rani, Malashree, Ramesh Kumar, Dinesh Shastri","doi":"10.1136/bcr-2024-262218","DOIUrl":"https://doi.org/10.1136/bcr-2024-262218","url":null,"abstract":"<p><p>One of the extremely rare locations for an ectopic pregnancy is myometrium. Intramyometrial ectopic pregnancy is characterised by an unusual form of implantation wherein the gestational sac is situated deep in the myometrium, separated from the endometrial cavity and fallopian tubes. It accounts for <1% of all ectopic pregnancies. The preoperative diagnosis based on ultrasound findings may mimic a degenerated leiomyoma, thereby posing further diagnostic challenges. We report a case of a woman in her late 20s presenting with abnormal uterine bleeding diagnosed ultrasonographically as posterior wall fibroid. Histopathological evaluation of the myomectomy specimen revealed chorionic villi lined by trophoblastic cells, thereby confirming the diagnosis. This case report aims to increase the awareness about the possibility of this potentially life-threatening rare entity even with normal serum beta-human chorionic gonadotropin levels.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432594","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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