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BMJ Case Reports

Priti P Lotlikar, Adriana G Creanga, Steven R Singer
Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull...
November 12, 2018: BMJ Case Reports
Hamed Jafari, Pooya Iranpour, Sara Haseli
Splenosis is the heterotopic implantation of splenic tissue that usually occurs in a previous major abdominal trauma or splenectomy setting. However, splenorenal fusion is an uncommon entity, categorised as a developmental anomaly. There have been several confirmed cases in the literature. Despite some helpful imaging features, it can be easily misdiagnosed as a neoplastic renal mass, resulting in unnecessary nephrectomy. Here we presented a case of splenorenal fusion in an elderly female patient, which was initially misdiagnosed as renal cell carcinoma in sonography...
November 12, 2018: BMJ Case Reports
Shavindra Chellen, Elizabeth Whittaker, Michael Eisenhut, Louis Grandjean
A 6-year-old girl presented acutely with worsening frontal headaches. She had a 3-month history of lethargy, reduced appetite, weight loss, cough and intermittent fevers. A chest X-ray showed a left upper lobe consolidation, and a CT head showed multiple enhancing lesions with significant surrounding oedema in both cerebral hemispheres. Due to the strong suspicion of tuberculosis (TB), she was admitted and treated with anti-TB therapy and steroids. Following this, pulmonary infection with Mycobacterium tuberculosis was confirmed by a positive PCR from induced sputum...
November 12, 2018: BMJ Case Reports
Udit Joshi, Sana Afroz, Sagar Ranka, Benjamin Mba
A 23-year-old woman with history of systemic lupus erythematous presented with dizziness and headache and was admitted for the stroke workup. During her stay, she had sudden painless loss of vision in her right eye consistent with central retinal artery occlusion (CRAO). Ocular massage and paracentesis were attempted without success to resume the flow. She was started on oral high-dose steroids (1 mg/kg) for lupus flare and therapeutic anticoagulation for antiphospholipid syndrome (positive for anticardiolipin and beta-2 microglobulin antibodies)...
November 12, 2018: BMJ Case Reports
Ylenia Abdilla, Charmaine Chircop, Norbert Vella
A 66-year-old man presented with chest pain and a 1-year history of generalised weakness, accompanied with generalised aches and pains. Symptoms worsened when he was initiated on statins. Investigations yielded high creatine kinase, high HMG-coenzymeA reductase (HMGCR) antibody titre, myopathic features on electromyography and muscle biopsy, and muscle atrophy on MRI. These results were in keeping with anti-HMGCR antibody myopathy. The patient responded well to immunosuppressive therapy.
November 12, 2018: BMJ Case Reports
Anup Singh, Amit Singh Chirom, Sandeep R Mathur, Suresh Chandra Sharma
Schwannomas arising from cervical sympathetic chain are rare benign neoplasms which are slow growing, usually asymptomatic, biochemically non-secretory and functionally inactive tumours. We present a case of secretory schwannoma arising from the cervical sympathetic chain, causing hypertension and associated with raised urinary catecholamine degradation by-products. Transcervical excision of the tumour was followed by normalisation of blood pressure and urinary vanillylmandelic acid levels and pathologically the tumour was proved to be a schwannoma...
November 12, 2018: BMJ Case Reports
José Eduardo Mateus, Carlos Dias Silva, Mafalda Ferreira, João Porto
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Ardy Fenando, Mark Mujer, Manoj P Rai, Ahmad Alratroot
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Niraj Nirmal Pandey, Arun Sharma, Sanjeev Kumar
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Rajeev Sandal, Aditya Jandial, Kundan Mishra, Pankaj Malhotra
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Rajesh Thampy, Chakradhar R Thupili
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Alexander Moylan, Emma Karsten, Shunmay Yeung, Francesca Cleugh
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Narothama Reddy Aeddula, Samata Pathireddy, Asif Ansari, Peter J Juran
Hydralazine, a vasodilator, is commonly used as an adjunctive treatment for moderate to severe hypertension, heart failure and hypertensive emergencies in pregnancy. Hydralazine-induced lupus was first described in 1953. Clinical presentation ranges from arthralgia, myalgia, petechiae, or rash to single or multiorgan involvement. An occurrence of systemic vasculitis is a rare complication. When presented as the pulmonary-renal syndrome, it could have a rapidly progressive course which can be fatal. Here, we describe a case of hydralazine-associated rapidly progressive glomerulonephritis and pulmonary haemorrhage...
November 8, 2018: BMJ Case Reports
Tripti Nakra, Rituparna Biswas, Rambha Pandey, Rajni Yadav
Synchronous multiple primaries of female genital tract are uncommon, with the most frequently encountered combination being of endometrium and ovary. Concurrent primary tumours of endometrium and cervix are rare. We report a case of coexistent endometrioid carcinoma of the endometrium and small cell neuroendocrine carcinoma of the cervix in 48-year-old woman who presented with menometrorrhagia and was detected to have metastases to distant sites on imaging. She underwent multimodality treatment which resulted in a significant reduction in the tumour bulk...
November 8, 2018: BMJ Case Reports
Preemal Patel, Milos Brkljac, Ulhas Sonar, Shyam Kumar
Heterotopic ossification (HO) is the abnormal growth of extraskeletal bone. Joint involvement may result in chronic stiffness and pain causing considerable functional impairment and the inability to perform the activities of daily living. HO affecting the shoulder joint is rare and little is known about its clinical course or treatment. Here, we describe the first reported case of glenohumeral HO following anterior dislocation. This occurred in a 70-year-old man following a fall onto outstretched hand. Due to persistent stiffness and pain at 8 months from initial injury, he underwent plain radiographs and MRI scans that confirmed rotator cuff tear and HO...
November 8, 2018: BMJ Case Reports
Devesh Kumawat, Vinod Kumar
A young female suffering from chronic kidney disease presented with retinal features suggestive of retinitis pigmentosa (RP). Cystoid intraretinal changes were noted at the macula in both eyes on optical coherence tomography. Careful clinical examination and fluorescein angiography revealed disc oedema, macular hard exudates and flower petal leakage in both eyes. A clinical diagnosis of RP with leaking cystoid macular oedema (CMO) because of hypertensive retinopathy was made. Exudation and macular oedema subsided with hypertension control and posterior sub-Tenon steroid injection...
November 8, 2018: BMJ Case Reports
Habib Syed, Labib Syed, Umesh Parampalli, Mokhtar Uheba
Intussusception is the invagination of a proximal segment of bowel into the lumen of an adjacent distal segment. It is a common condition in the paediatric age group although it rarely occurs in adults. Organic lesions in the bowel wall are the primary cause of adult intussusceptions with malignant neoplasms being the most common. However, we present a rare case of a 92-year-old man diagnosed with an intussusception of the sigmoid-rectal colon secondary to a diverticular stricture.
November 8, 2018: BMJ Case Reports
Bhargavi Kola
No abstract text is available yet for this article.
November 8, 2018: BMJ Case Reports
Sajjad Ahmad, Angeliki Giannopoulou, Penelope Owen, Atul Kalhan
A 30-year-old woman with polyglandular autoimmune type 2 syndrome was found collapsed at home with a cardiac arrest, which required direct current cardioversion. On admission, she was hypothermic, hypotensive and bradycardic. Initial biochemical investigations were consistent with a pre-renal acute kidney injury, metabolic acidosis and a possible sepsis. She had significantly elevated thyroid-stimulating hormone levels on admission with the clinical profile consistent with dual Addisonian and myxoedema crisis...
November 8, 2018: BMJ Case Reports
Sayaka Tachi, Noriko Yoneda, Satoshi Yoneda, Shigeru Saito
A 35-year-old Jehovah's Witness patient with total placenta previa was referred to our hospital at 30 weeks of gestation. She refused autologous and allogeneic blood transfusions, but agreed to receive acute normovolaemic haemodilution, intraoperative blood salvage and biological products. At 35 weeks, she underwent emergent caesarean delivery because of labour pains. Multidisciplinary therapy, including the insertion of balloon catheters into the bilateral common iliac arteries, acute normovolaemic haemodilution and intraoperative blood salvage, avoided hysterectomy; however, blood loss included amniotic fluid which was estimated to be 1910 mL...
November 8, 2018: BMJ Case Reports
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