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BMJ Case Reports
Journal Prestige (SJR): 0.213
Number of Followers: 26  
 
  Hybrid Journal Hybrid journal (It can contain Open Access articles)
ISSN (Print) 1757-790X
Published by BMJ Publishing Group Homepage  [61 journals]
  • An unusual presentation of gall bladder papillomatosis in association with
           metachromatic leukodystrophy
    • Authors: Kurian, J. J; Jacob, T. J. K.
      Abstract: A 5-year-old boy with metachromatic leukodystrophy, debilitated by spastic quadriparesis presented to us with massive ascites and respiratory distress. A subtotal cholecystectomy was performed on him from another centre for a gall bladder mass a year before he came to us. Imaging revealed a polypoidal frond-like mass arising from the gall bladder fossa which was supplied by a hypertrophied branch of the right hepatic artery. A decision was made to offer surgical resection preceded by embolisation of the feeding vessel. At surgery, a polypoidal frond-like mass in communication with the peritoneal cavity was seen arising from the remnant gall bladder bed with over 4 L of mucoid ascites. The mass along with the remnant gall bladder was removed. Biopsy revealed villous papilloma of the gall bladder. The child is well and asymptomatic at 5-month follow-up.
      Keywords: Rare disease
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2017-224162
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Acute myeloid leukaemia relapse presenting as cardiac myeloid sarcoma
    • Authors: Waselewski, A; Joiner, M, Miller, S. R.
      Abstract: A 50-year-old woman previously diagnosed with acute myeloid leukaemia presented with a 3-month history of shortness of breath and a right-sided facial rash. A chest CT revealed an intracardiac mass in the right atrium extending into her superior and inferior vena cava. Surgery was performed to remove the mass and pathology was consistent with myeloid sarcoma. After surgery, adjuvant radiation therapy was directed to the residual disease. The patient eventually relapsed in other sites not including the right atrium and eventually succumbed to her disease.
      Keywords: Open access, Unusual presentation of more common disease/injury
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-224419
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Congenital colonic stenosis with absent caecum and appendix: a rare
           association
    • Authors: Khanna, K; Yadav, D. K, Nandan, R, Goel, P, Srinivas Rao, P.
      Abstract: Congenital colonic stenosis is a rare condition with less than 20 cases reported in the literature since 1966. We report an interesting case of a 7-month-old baby girl who presented with features suggestive of acute intestinal obstruction. On exploration, it was a case of ascending colon stenosis with absence of caecum and appendix. A double barrel ileocolostomy was performed. The histopathology confirmed the diagnosis of colonic stenosis and ruled out the presence of Hirschsprung’s disease in the distal colon. The child underwent second stage surgery (stoma closure) after 9 months. In complex cases of congenital colonic stenosis, an early decompressive surgery followed by a delayed second stage closure is recommended in patients with poor general condition.
      Keywords: Rare disease
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-225072
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Multifocal avascular osteonecrosis despite appropriate anticoagulation
           therapy in a patient with systemic lupus erythematosus and
           antiphospholipid syndrome
    • Authors: Cecchi, I; Perez Sanchez, L, Sciascia, S, Roccatello, D.
      Abstract: Multifocal avascular osteonecrosis (AON) is a serious manifestation of systemic lupus erythematosus (SLE). Prothrombotic factors, especially antiphospholipid antibodies (aPL), have been associated with the development of AON; therefore, attenuating the procoagulant state while balancing the haemorrhagic risks might have a rationale when managing this condition. We report a case of a 37-year-old patient with SLE, treated with low doses of corticosteroids and immunosuppressive therapy, who was started on vitamin K antagonist following an episode of deep vein thrombosis while having persistent positivity for aPL. After 2 years, he presented with multifocal AON, involving both femurs and shoulders. The patient underwent a bilateral hip replacement, but despite appropriate anticoagulation therapy after 2 years, he developed another episode of AON at both distal epiphyses of the femurs and proximal epiphyses of the tibias. Multifocal AON should be suspected, especially in the presence of aPL positivity. Its aetiology is still unknown and is most likely multifactorial. Its management is challenging and requires combined approaches.
      Keywords: Rare disease
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-225532
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Hypoglossal canal schwannoma causing isolated left 12th cranial nerve
           palsy
    • Authors: Heda, S; Karthik, D. K, Rao, E. S, Deshpande, A.
      Abstract: A 40-year-old woman presented with insidious onset, gradually progressive dysarthria and inability to manoeuvre bolus of food in her mouth while eating. The duration of her symptoms was 3 months. On evaluation, the left half of her tongue was wasted. The tongue deviated to the left on protrusion. There were no clinical features suggestive of involvement of the ipsilateral 9th, 10th or 11th cranial nerves. MRI of the brain showed a large, fusiform lesion in the left hypoglossal canal, extending into the jugular canal. The lesion was surgically excised and found to be a schwannoma.
      Keywords: Unusual presentation of more common disease/injury
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-225544
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Cryoablation: a potential treatment option for renal metastasis from lung
           cancer'
    • Authors: Degn, S; Davidsen, J. R, Graumann, O.
      Abstract: Cryoablation is successfully performed as a treatment for small renal cancers. The occurrence of a solitary renal metastasis from lung cancer is an uncommon finding entailing a limited knowledge on the choice of its optimal treatment. We present two patients diagnosed with non-small cell lung cancer, who were initially treated with curatively intended chemoradiotherapy. In the follow-up period, a non-symptomatic solitary renal metastasis was found in both patients. Both received CT-guided cryoablation of their renal metastases. One patient was successfully treated with no relapse, whereas the other patient received re-cryoablation due to development of a new renal metastasis. In both patients, no residual tumour was found at the 3 months’ follow-up examination. Whether the minimally invasive procedure of cryoablation is a feasible treatment in the management of solitary renal metastases from lung cancer is still undetermined. The recurrence and incomplete treatment are concerns requiring further research.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-225841
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Challenges facing a woman wishing to report intimate partner violence in
           Belize
    • Authors: MacCormac, O. J; Romo, T.
      Abstract: We present a case of a 29-year-old woman who presented to a volunteer-run primary care facility in Southern Belize. Her initial presentation was vaginal itching and white discharge; she also requested insertion of a sub-dermal contraceptive implant. During the insertion, marks suspicious for deliberate self-harm were noticed on the patient’s arm, and on further exploration she revealed she was being physically and emotionally abused by her husband. With some encouragement, she requested help in taking further action to preserve her safety; however, in Belize clinicians have no power to assist in cases involving adults. Therefore, the victim should self-present to a police station, resulting in a significant potential barrier to reporting intimate partner violence (IPV). Here we discuss this barrier further, as well as other barriers that exist to reporting IPV, and discuss possible policy changes that may improve the situation in Belize.
      Keywords: Global health
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-226048
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Adult testicular granulosa cell tumour: an extremely rare entity
    • Authors: Nunes-Carneiro, D; Marques-Pinto, A, Cavadas, V, Fraga, A.
      Abstract: Adult granulosa cell tumours are extremely rare and usually benign but sometimes can assume an aggressive behaviour. A 31-year-old man presented with a 45 mm testicular mass. Radical orchiectomy was performed. Histological examination showed elongated cells, with hyperchromatic nuclei and Call-Exner bodies. Immunohistochemical analysis revealed positivity to vimentin, inhibin and negative PLAP and AE1/AE3 staining. The patient did not receive any adjuvant therapy and remained asymptomatic during 10 years. There are few cases of adult granulosa cell tumours and there is no consensus regarding malignancy criteria, treatment and follow-up. The description of these entities is crucial to allow a better management of these patients.
      Keywords: Rare disease
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-226316
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Case of keratoacanthoma centrifugum marginatum treated with acitretin
    • Authors: Mehrtens, S. H; de la Hera, I, Shankar, S.
      Abstract: Keratoacanthoma centrifugum marginatum (KCM) is a rare variant of keratoacanthoma (KA), characterised by a progressively expanding tumour with a lack of spontaneous remission and significant scarring. KCM has been reported previously in less than 50 cases worldwide. We present the case of a large solitary KCM on the right shin of a 71-year-old woman. This was treated successfully with oral acitretin for 16 months with sustained remission at 24 months. Our case provides further supporting evidence for acitretin as a useful treatment for KCM to induce remission, prevent extensive surgery and minimise destructive scarring.
      Keywords: Rare disease
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-226818
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Central serous chorioretinopathy in a patient of juxtapapillary excavation
           misdiagnosed as optic disc pit maculopathy
    • Authors: Kumawat, D; Anjum, S, Sahay, P, Chawla, R.
      Abstract: A 29-year-old healthy man had blurring of vision in the left eye for the past 2 months and was referred for the surgical management of optic disc pit maculopathy. Colour fundus examination and optical coherence tomography (OCT) revealed a large deep retinochoroidal excavation close to the temporal edge of the optic disc with an isolated central neurosensory detachment at the macula with underlying multiple small pigment epithelium detachments in the absence of retinoschisis. Fundus fluorescein angiography (FFA) confirmed the presence of multi-focal leakage at the macula and pooling into subretinal space in the form of a ‘smoke-stack’. A correct diagnosis of juxtapapillary excavation and central serous chorioretinopathy was made and lifestyle modifications were advised in view of the acute episode. The clinical signs, OCT and FFA feature helped in the differentiation and appropriate management of maculopathy in this case.
      Keywords: Unusual association of diseases/symptoms
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-226952
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Perioperative management of an anterior mediastinal teratoma in an infant:
           one more tool in the toolbox
    • Authors: Brenn, B. R; Reddy, S. K, Van Arendonk, K. J, Morgan, W. M.
      Abstract: Anterior mediastinal masses present a significant challenge in the perioperative period. Standard anaesthetic induction and airway management are often not feasible due to the risk of complete respiratory and/or cardiovascular collapse. Invasive manoeuvres, such as extracorporeal membrane oxygenation, cardiac bypass, or tracheal or bronchial stenting, are sometimes not applicable due to significant anatomic aberration. We present a case of anterior mediastinal mass in a 5-month-old infant where typical management techniques in the treatment algorithm were not possible.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-227022
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Incidental discovery of Amyands hernia
    • Authors: Mohaidin, N; Ong, S. C. L.
      Abstract: Description  A 58-year-old woman was referred to Hospital Tuanku Ja’afar (Seremban, Malaysia) for contrast-enhanced CT abdomen and pelvis following discovery of a solid mass in the right adnexa on ultrasonography. CT findings revealed a well-defined, fat-containing mass with calcifications in the right adnexa measuring 4.5x7.8x4 cm, consistent with ovarian teratoma (figure 1). Incidentally, the vermiform appendix appeared to be elongated and extended into the right inguinal canal. It was not enlarged, and there was no surrounding fat streakiness (figures 1 and 2). A diagnosis of Amyand’s hernia was made. She was advised for conservative (non-surgical) treatment as she was asymptomatic for both ovarian mass and Amyand’s hernia. She was then given appointment for ultrasound follow-up. Figure 1Contrast-enhanced CT abdomen and pelvis in axial sections showing the appendix (arrows) extending into the right inguinal canal. Right ovarian teratoma is also visualised (asterisk).
      Keywords: Images in...
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-227122
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Endodontic management of maxillary central incisor with pulp canal
           obliteration
    • Authors: Lakinepally, A; Poonia, A, Samarthy, D. K, Edulapalli, K.
      Abstract: Description  Traumatised teeth usually develop pulp canal obliterations and are characterised by radiographic loss of pulp space and yellowish discoloration of clinical crown.1 2 The American Association of Endodontists included teeth with radiographic indiscernible root canals requiring treatment in high difficulty criteria.3 Proper debridement, disinfection and obturation of root canal is difficult in such cases thus compromising root canal treatment. This article presents case of pulp canal obliteration of maxillary central incisor that was managed with usage of cone beam CT (CBCT), microscopes, periodic radiographs and small sized hand files which helped in achieving patency to the pulp chamber and root canal. A 35 year old male patient reported with pain in upper front region of jaw since 3 months. The patient gave history of trauma 3 years ago when he met with an accident, thereafter he noticed gradual change in the transparency of the crown but...
      Keywords: Images in...
      PubDate: 2018-11-01T21:54:40-07:00
      DOI: 10.1136/bcr-2018-227318
      Issue No: Vol. 2018, No. oct31 2 (2018)
       
  • Obstructive sleep apnoea and hypoventilation in an adult with congenital
           myasthenic syndrome
    • Authors: Younas, H; Roda, R, Jun, J.
      Abstract: In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase (MuSK, c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hypercapnic respiratory failure. In the intensive care unit, he required intubation followed by tracheostomy which resolved obstructive sleep apnoea. Later, due to persistent sleep-associated hypoventilation, he required nocturnal mechanical ventilation. His case illustrates how respiratory muscle weakness due to mutations in MuSK can lead to various forms of sleep disordered breathing.
      Keywords: Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
      PubDate: 2018-11-14T00:11:40-08:00
      DOI: 10.1136/bcr-2018-226534
      Issue No: Vol. 2018, No. nov13 1 (2018)
       
  • Parry-Romberg syndrome in a patient with scleroderma
    • Authors: Kuah, C. Y; Koleva, E, Gan, J. J. L, Iqbal, T.
      Abstract: Parry-Romberg syndrome (PRS) is characterised by progressive but self-limiting facial hemiatrophy. We describe a 48-year-old woman with a 3-year history of gradually worsening right facial hemiatrophy on a background of scleroderma. Her initial primary concern was alopecia. Within the last year, there was greater prominence of her right zygoma and hyperpigmentation on her forearms and left neck. She also had worsening headaches and neck stiffness in the mornings. A clinical diagnosis of PRS was made and she was subsequently treated with a course of methotrexate. She is due to be followed up by dermatology, rheumatology and maxillofacial surgery with the aim of reconstructive surgery once her symptoms stabilise.
      Keywords: Rare disease
      PubDate: 2018-11-14T00:11:40-08:00
      DOI: 10.1136/bcr-2018-226754
      Issue No: Vol. 2018, No. nov13 1 (2018)
       
  • Secretory cervical schwannoma: first of its kind
    • Authors: Singh, A; Chirom, A. S, Mathur, S. R, Sharma, S. C.
      Abstract: 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.
      Keywords: Unusual presentation of more common disease/injury
      PubDate: 2018-11-12T06:53:25-08:00
      DOI: 10.1136/bcr-2018-225222
      Issue No: Vol. 2018, No. nov12 1 (2018)
       
  • Anti-HMGCR antibody-associated necrotising myopathy and its association
           with statin use
    • Authors: Abdilla, Y; Chircop, C, Vella, N.
      Abstract: 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.
      Keywords: Rare disease
      PubDate: 2018-11-12T06:53:25-08:00
      DOI: 10.1136/bcr-2018-226302
      Issue No: Vol. 2018, No. nov12 1 (2018)
       
  • Bilateral central retinal artery occlusion from catastrophic
           antiphospholipid syndrome
    • Authors: Joshi, U; Afroz, S, Ranka, S, Mba, B.
      Abstract: 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). On day 4, she started having painful bluish discoloration of her left index finger and right fifth toe, and on day 5 she had acute onset of left blurry vision with findings consistent with CRAO. She fulfilled the criteria of catastrophic antiphospholipid syndrome and was started on intravenous pulse steroids, plasmapheresis and higher international normalised ratio goal of 3–3.5 with improvement in her left eye vision from 20/200 to 20/20 on near card test by the end of treatment.
      Keywords: Unusual presentation of more common disease/injury
      PubDate: 2018-11-12T06:53:25-08:00
      DOI: 10.1136/bcr-2018-226463
      Issue No: Vol. 2018, No. nov12 1 (2018)
       
  • Cerebral tuberculomas in a 6-year-old girl causing central diabetes
           insipidus
    • Authors: Chellen, S; Whittaker, E, Eisenhut, M, Grandjean, L.
      Abstract: 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. Cerebral spinal fluid (CSF) analysis was normal and tested negative for M. tuberculosis on PCR. During her first week of treatment, she developed polyuria, nocturia and polydipsia and was diagnosed with central diabetes insipidus. She was started on desmopressin which rapidly improved her symptoms, and she was continued on desmopressin for 3 months. Currently, she remains well and has shown a good response to TB treatment.
      Keywords: Open access, Unusual association of diseases/symptoms
      PubDate: 2018-11-12T06:53:25-08:00
      DOI: 10.1136/bcr-2018-226590
      Issue No: Vol. 2018, No. nov12 1 (2018)
       
  • Renal pseudomass: be aware of splenorenal fusion
    • Authors: Jafari, H; Iranpour, P, Haseli, S.
      Abstract: 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. More specific imaging modalities and biopsy are helpful in suggesting the correct diagnosis.
      Keywords: Rare disease
      PubDate: 2018-11-12T06:53:25-08:00
      DOI: 10.1136/bcr-2018-226652
      Issue No: Vol. 2018, No. nov12 1 (2018)
       
  • Clinical and radiological findings in a severe case of cleidocranial
           dysplasia
    • Authors: Lotlikar, P. P; Creanga, A. G, Singer, S. R.
      Abstract: 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. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.
      Keywords: Rare disease
      PubDate: 2018-11-12T06:53:25-08:00
      DOI: 10.1136/bcr-2018-226671
      Issue No: Vol. 2018, No. nov12 1 (2018)
       
  • Leptomeningeal carcinomatosis as primary presentation of metastatic
           urothelial cancer
    • Authors: Lambird, J; Beerepoot, L.
      Abstract: Leptomeningeal spread of carcinoma, referred to here as leptomeningeal carcinomatosis, is an uncommon complication of many cancer types. Its manifestations as the presenting symptoms of a new cancer diagnosis is even less common. This case describes the manifestations of leptomeningeal spread of urothelial carcinoma with review of pathophysiology driving the presenting symptoms of hypertension and headache. In the Discussion section, we address the standard and novel interventions for management of increased intracranial pressure.
      Keywords: Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2017-224150
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Isolated renal mucormycosis in a patient with Idiopathic CD4
           lymphocytopenia
    • Authors: Sethi, J; Ramachandran, R, Kohli, H. S, Gupta, K. L.
      Abstract: Idiopathic CD4 lymphocytopenia (ICL) is characterised by a low CD4 +lymphocyte count in the absence of HIV or other underlying aetiologies. We report a case of a 17-year-old girl with ICL with autoimmune hepatitis who developed isolated renal mucormycosis, which, to our knowledge, is the first reported case described in literature. Combination therapy with antifungals and surgical resection was done, and the patient improved. This case report illustrates the importance of timely multidisciplinary approach to recognise this highly fatal disease at an early stage.
      Keywords: Reminder of important clinical lesson
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225234
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Rare case of a newborn baby with left-sided Erbs palsy and a
           contralateral/right-sided paralysis of the diaphragm
    • Authors: Pegu, S; Deb, B, Kalapesi, Z.
      Abstract: Brachial plexus birth injury (BPBI) and phrenic nerve injury can sometimes occur concurrently in neonates following difficult deliveries like breech presentation, shoulder dystocia, forceps or vacuum extraction. Phrenic nerve palsy should be suspected in a newborn with respiratory distress and an elevated hemidiaphragm on the imaging studies in presence of the associated risk factors. The right side is affected more often than the left side and most of it is associated with BPBI. We present here a rare case of a newborn baby with a left-sided Erb’s palsy and a contralateral/right-sided diaphragmatic paralysis who recovered from the persistent respiratory distress and feeding difficulties following plication of the diaphragm. The left-sided Erb’s palsy also fully recovered at follow-up examination.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225373
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Severe haemophilia A in a neonate presenting as haemopneumothorax after
           tracheo-oesophageal fistula-oesophageal atresia repair
    • Authors: Hung, Z; Bahari, M, Belletrutti, M. J, Joynt, C.
      Abstract: A male infant with oesophageal atresia and distal tracheo-oesophageal fistula (TEF type C) underwent right thoracotomy and transpleural repair of TEF on day 4 of life. He did not have a family history of coagulation disorders. A preoperative finding of prolonged partial thromboplastin time (PTT)>200 s was overlooked, and he went to surgery. There were no concerns with haemostasis prior to and even during the operation. The prolonged PTT was treated with one 10 mL/kg dose of fresh frozen plasma in the immediate postoperative period. On the fourth postoperative day, the infant developed a right haemopneumothorax, requiring fresh frozen plasma and packed cell transfusions. He was subsequently diagnosed with severe haemophilia A due to intron 22 inversion in the factor VIII gene, with factor VIII level
      Keywords: Reminder of important clinical lesson
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225526
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Rapid detection of Listeria monocytogenes rhombencephalitis in an
           immunocompetent patient by multiplexed PCR
    • Authors: Richards, R. J; Simon, M. S, Phillips, C. D, Lief, L, Jenkins, S. G, Satlin, M. S.
      Abstract: A 46-year-old previously healthy man presented with 1 week of headache, nausea, vomiting and dizziness. He was found to have cranial nerve deficits, his cerebrospinal fluid (CSF) demonstrated a lymphocytic pleocytosis and brain MRI suggested rhombencephalitis. Although Gram stains and cultures of his CSF did not identify a pathogen, Listeria monocytogenes DNA was detected by the FilmArray Meningitis/Encephalitis panel within 2 hours of performing a lumbar puncture. He was treated with ampicillin and gentamicin and had a near-complete recovery. This case highlights the importance of recognising L. monocytogenes infection as a cause of acute cranial nerve impairment with MRI findings suggestive of brainstem encephalitis. It also highlights the frequently atypical CSF profile and low yield of culture in L. monocytogenes rhombencephalitis and the value of multiplex PCR testing of CSF to rapidly identify this pathogen and permit targeted therapy.
      Keywords: Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225575
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Splenic granulomas: a rare manifestation of Mycobacterium avium complex in
           an immunocompetent host
    • Authors: Acharya, N; Chattopadhyay, A, Sharma, K, Sharma, A.
      Abstract: Infections caused by Mycobacteriumavium complex (MAC) are commonly seen in immunocompromised individuals. Though disseminated MAC infections with splenic granulomas are seen in some patients, MAC infection clinically manifesting as only splenic granulomas is rare. This presentation is even less common in immunocompetent individuals. We report a case of a young adult who presented with fever of unknown origin and was found to have multiple splenic granulomas. Fine needle aspiration cytology and PCR for Mycobacterium tuberculosis of the granulomas revealed a diagnosis of MAC infection. The patient was not found to have any immunodeficiency on investigations. This case is perhaps the first case of MAC clinically presenting as splenic granulomas in an immunocompetent individual.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225788
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Large anterior urethral calculus masquerading as periurethral abscess
    • Authors: Aggarwal, A; Singh, V, Sinha, R. J, Pandey, S.
      Abstract: Urethral calculus causes variety of symptoms from simple dysuria to acute urinary retention. The diagnosis is many times not easy. A plain X-ray of the pelvis may aid in diagnosis. Due to variety of symptomatic presentations sometimes it is not the first diagnosis that comes to one’s mind. Management is by removal of the calculus via various methods ranging from endoscopic to open surgery. We present the case of an adult male, who was initially thought to have periurethral abscess due to stricture urethra but during investigations was found to have urethral calculus as the cause for his symptoms.
      Keywords: Unusual presentation of more common disease/injury
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225831
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Challenging cause of bullous eruption of the hands in the Arctic
    • Authors: Kristiansen, B; Penninga, L, Diernaes, J. E. F.
      Abstract: Phytophotodermatitis is caused by deposition of photosensitising compounds on the skin followed by ultraviolet exposure. We present an unusual case of a 29-year-old Australian male visiting Greenland who presented with severe itchy bullous eruption on his hands. The cause was a combination of exposure to lime fruit juice and prolonged sun exposure from the Arctic midnight sun.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-225981
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Pelvic pain in young girls: not only dysmenorrhoea!
    • Authors: Veiga, V. F; Ribeiro, B, Afonso, H, Reis, I.
      Abstract: Imperforate hymen is the most frequent cause of haematocolpos, although it is a rare malformation (1:2000). We present two cases of young girls with cyclic abdominal pain and urinary symptoms. At gynaecological examination, they all presented imperforate hymen and ultrasound revealed significant vaginal distension. X-shaped hymenectomy was performed in all patients. The later the diagnosis of imperforate hymen, the higher the risk of complications like haematometra, haematosalpinx, haemoperitoneum and infections such as tubo-ovarian abscesses, peritonitis and endometriosis (retrograde menstruation theory).
      Keywords: Reminder of important clinical lesson
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226041
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Large mediastinal mass in a 15-year-old boy
    • Authors: Gohar Ali, M; Zubairi, A. B. S, Qamar, F. N.
      Abstract: Hyperimmunoglobulin E syndrome is a rare multisystem inherited disorder characterised by high serum IgE levels, skin disorder causing eczema, dermatitis, recurrent staphylococcal infections and pulmonary infections and various skeletal and connective tissue abnormalities. Common presentation is with recurrent skin and sinopulmonary infections. Several features unrelated to immune system such as characteristic facial features, hyperextensibility of joints, multiple bone fractures and craniosynostosis have been described in the literature. We describe a rare presentation of this disease with invasive aspergillosis presenting as mediastinal mass with extension to mediastinal structures and pulmonary vasculature.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226074
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Bronchoalveolar carcinoma as an unsuspected cause for worsening shortness
           of breath in a patient with metastatic breast cancer
    • Authors: Nagpal, S. K; Flynn, M, Ryan, C, Harper-Wynne, C.
      Abstract: A 70-year-old woman with lung metastases from a breast cancer presented with worsening cough and dyspnoea. She recently had a pleurodesis for a malignant pleural effusion. Chest CT scans demonstrated various radiological changes leading to diagnostic challenges. Differential diagnoses included empyema, pleural disease progression, pulmonary oedema, pneumonitis, lymphangitis and atypical infections. She deteriorated despite a multimodality treatment strategy. Postmortem examination confirmed that lung changes were consistent with a bronchoalveolar carcinoma unrelated to the known metastatic breast cancer. The eventual knowledge of this diagnosis was reassuring to the treating medical team and a comfort to the relatives who witnessed the lack of response to standard treatment.
      Keywords: Reminder of important clinical lesson
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226125
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Successful treatment of central nervous system myeloma manifesting as
           cauda equina nodules with intrathecal chemotherapy, lenalidomide and
           dexamethasone
    • Authors: Koo, R. M; Crispin, P, Craft, M, Lalloo, S.
      Abstract: We report a case of central nervous system myeloma manifesting as cauda equina nodules, successfully treated with triple intrathecal (IT) chemotherapy, lenalidomide and dexamethasone. After presenting with multiple plasmacytomas which led to a diagnosis of non-secretory myeloma at age 56, the patient underwent multiple episodes of treatment for relapsing myeloma over a 7-year period. In March 2017, he presented with declining gait over a month with bilateral hip flexion weakness, absent lower limb reflexes and dorsal column loss. MRI of the spine revealed multiple enhancing cauda equina nodules at L1–L3. Cerebrospinal fluid (CSF) examination confirmed a clonal plasma cell population and disease was not found elsewhere. He was treated with radiotherapy, IT and intravenous methotrexate and cytarabine. However, repeat lumbar puncture revealed persistent disease. Clearance of CSF plasma cells was achieved with two times a week IT cytarabine, methotrexate and dexamethasone. He was started on lenalidomide and dexamethasone with no evidence of disease progression at 12 months.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226146
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Use of Integra dermal substitute to prevent implantable device extrusion
           in an Olympic athlete
    • Authors: Page, F; Patel, K, Jaffe, W.
      Abstract: We present a challenging case of imminent metallic implant extrusion in a Paralympic athlete managed with a single-stage procedure using ‘Integra’ dermal substitute. The patient had hereditary spastic paraparesis, for which a baclofen pump delivering intrathecal medication was vital in the management of his condition. The device had been most recently implanted into the thigh after previous complications. Integra provided robust soft-tissue coverage over the implanted baclofen pump in the thigh. Different operative management strategies were considered but the use of Integra was felt to offer the least morbidity and a quick recovery. The patient was able to successfully compete in a Paralympic canoeing qualifying event the week following surgery and achieve medal success. To the authors’ knowledge, this is first case in which Integra has been used in such circumstances.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226181
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Renal autotransplantation for the management of renal artery in-stent
           restenosis in an adult patient with Takayasu arteritis
    • Authors: Vijayvergiya, R; Sharma, A, Kanabar, K. P, Sihag, B. K.
      Abstract: Renovascular hypertension is a common clinical presentation in Takayasu arteritis (TA), when the renal arteries are involved. Although most of the patients respond to optimal antihypertensive drug therapy, certain patients with TA require percutaneous or surgical renal artery revascularisation to manage renovascular hypertension. We, hereby, present a 45-year-old woman, who had resistant hypertension secondary to in-stent restenosis (ISR) of renal artery stent in a single functioning kidney. She had successful renal autotransplantation following a failed endovascular attempt to treat ISR. Endovascular and surgical interventions related to renal artery stenosis in TA are discussed in the article.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226236
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an
           infant with tuberous sclerosis: treated successfully with sirolimus
    • Authors: Takia, L; Jat, K. R, Mandal, A, Kabra, S. K.
      Abstract: Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Detailed history revealed that patient was symptomatic since 1 month of age in the form of seizures. She had respiratory symptoms for last 15 days. General physical examination revealed whitish macular patches. Brain imaging was suggestive of cortical tubers and subependymal nodules. The echocardiography showed right atrial rhabdomyoma. Chest CT revealed multiple cysts suggesting LAM. On the basis of above findings, a diagnosis of tuberous sclerosis complex with LAM was made. The infant was started on sirolimus and there was significant clinical and radiological improvement over a period of 2 and half years without any side effects.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226244
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • In trauma, expect the unexpected: a rare case of post-traumatic
           pancreatitis associated with salmonellosis and enterocolitis
    • Authors: Apelt, N; Thompson, E, Brown, E, Schindel, D.
      Abstract: A 16-year-old Hispanic man was transferred to our level I paediatric trauma centre with pancreatitis. Ten days prior, he had sustained a gunshot wound to the abdomen requiring an exploratory laparotomy for repair of a traumatic left diaphragmatic injury. Additional injuries included gastric, renal, liver and pancreatic lacerations as well as a T12 burst fracture that resulted in paraplegia. Conservative management of pancreatitis was unsuccessful over the next 10 days, resulting in progressive symptoms of severe unresolved pain, nausea, emesis and rising lipase. Workup for post-traumatic, biliary and drug-associated causes of pancreatitis was negative, and no anatomical abnormalities were found on imaging. A fever workup on hospital day 10 revealed a urinary tract infection with non-typhoid Salmonella sp, and subsequent stool and imaging studies revealed salmonellosis associated with right-sided colitis and Clostridium difficile infection. Pancreatitis resolved within 48 hours following treatment of salmonellosis and Clostridium.
      Keywords: Unusual association of diseases/symptoms
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226286
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Primary hydatid cyst of the urinary bladder
    • Authors: Arif, S. H; Mohammed, A. A.
      Abstract: A 35-year-old man presented with poorly localised lower abdominal pain for 3 months. Abdominal examination revealed lower abdominal tenderness, with normal other parts of examination. CT scan of the abdomen showed irregular multiloculated mass related to the upper part of the urinary bladder with mild rim enhancement in the postcontrast study with no areas of calcifications. During laparotomy, we found a mass attached to the superior part of the urinary bladder and arising from its wall. Complete excision was done without opening the cavity of the bladder. The mass was opened and was a hydatid cyst of the bladder containing multiple daughter cysts.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226341
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Dulaglutide-induced cerebral venous thrombosis in a patient with type 2
           diabetes mellitus
    • Authors: Rajput, R; Pathak, V, Yadav, P. K, Mishra, S.
      Abstract: Though patients with diabetes mellitus are at a high risk of atherothrombotic events, every such event should not be attributed to the disease itself. We present a case of a patient with diabetes with headache and blurring of vision for 3 days. Brain imaging revealed right transverse sinus thrombosis and acute infarct of the right posterior parieto-occipital region, predominantly in the posterior cortical watershed zone. The patient was on subcutaneous dulaglutide for 3 weeks and was having nausea and vomiting. Various causes of cerebral venous thrombosis were ruled out with appropriate laboratory investigations. Finally, cerebral venous thrombosis was attributed to dulaglutide-induced nausea and vomiting which led to severe dehydration.
      Keywords: Unexpected outcome (positive or negative) including adverse drug reactions
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226346
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • De Winter pattern: a forgotten pattern of acute LAD artery occlusion
    • Authors: Carrington, M; Santos, A. R, Picarra, B. C, Pais, J. A.
      Abstract: Description   The De Winter ECG pattern was reported as an indicator of acute left anterior descending (LAD) coronary artery occlusion and is considered an anterior ST-elevation myocardial infarction (STEMI) equivalent.1 The key diagnostic features include ST-depression and peaked T-waves in precordial leads, and it can be seen in around 2% of patients with anterior myocardial infarction.1 2 We report a case of a 77-year-old woman with history of treated hypertension and hypercholesterolaemia. She presented to the emergency department with a typical acute chest pain, almost 1 hour after symptom onset. An ECG was immediately obtained and revealed sinus bradycardia at 45 bpm, with 1–2 mm ST-depression at the J point that continued into a wide, tall, positive, symmetrical T-wave in leads V2–V6, and a 0.5 mm ST-elevation in lead aVR (figure 1A). She was immediately transferred to our primary coronary intervention (PCI) centre. The...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226413
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Case of Donath-Landsteiner haemolytic anaemia in an adult female
    • Authors: Bhatt, R; Calvo, L, Raju, G, Podrumar, A.
      Abstract: Donath-Landsteiner haemolytic anaemia (DLHA), also known as paroxysmal cold haemoglobinuria, is a very rare and difficult condition to diagnose as well as treat. Here, we present a case of a 55-year-old Hispanic woman who presented with severe intravascular haemolytic anaemia in the setting of a viral illness 2 weeks prior to presentation. Direct antiglobulin testing revealed mixed results: positive for either complement, IgG or both on various occasions which led to a battery of tests including the Donath-Landsteiner antibody testing which turned out positive establishing the diagnosis of DLHA. She was initially treated unsuccessfully with supportive care in the form of packed red blood cell transfusions and steroids as well as rituximab for about 4 weeks but her condition improved on cyclophosphamide, and she is on the road to recovery after 10 weeks of hospital stay.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226475
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Successful treatment of total placenta previa by multidisciplinary therapy
           in a Jehovahs Witness patient who refused blood transfusions
    • Authors: Tachi, S; Yoneda, N, Yoneda, S, Saito, S.
      Abstract: 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. These treatments may be effective for total placenta previa in blood-refusal patients.
      Keywords: Reminder of important clinical lesson
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226486
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Polyglandular endocrine emergency: lessons from a patient, which a book
           cannot teach
    • Authors: Ahmad, S; Giannopoulou, A, Owen, P, Kalhan, A.
      Abstract: 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. She received intravenous liothyronine and hydrocortisone along with supportive therapy. Echo showed severe left ventricular impairment with apical ballooning although coronary angiogram disclosed nothing abnormal. She made a gradual recovery and was discharged home after 2 weeks. She was diagnosed to have primary autoimmune hypothyroidism, Addison’s diseaseand type 1 diabetes and coeliac disease in October 2006, July 2007, May 2010 and September 2016, respectively. Her inability to stick to gluten-free diet at her workplace was considered a significant contributory factor for out-of-hospital cardiac arrest.
      Keywords: Unusual presentation of more common disease/injury
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226503
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Unexpected presentation of Helicobacter pylori in a male child
    • Authors: Kola B.
      Abstract: Description  A 6-year-old previously healthy boy presented to paediatric clinic with increasing severity and frequency of his gag reflex over the period of 2 months. According to the parents, the child was previously healthy, immunised and no perinatal complications. His initial symptoms were nausea that was worse in lying position, occurred mostly during the night, no abdominal pain, discomfort or other associated symptoms. These symptoms gradually worsened to gagging that is constant and currently interfere with his day-to-day activity. No identifiable stressors at home or school that triggered the symptoms. No dental problems, prosthesis and regularly visits his dentist. His physical findings were normal with stable vitals and soft, non-tender abdomen with normal bowel sounds. His oral examination was unremarkable and the patient was discharged on histamine blockers for 2 weeks despite which he had no improvement. His persistent symptoms alerted the clinician for possible dental and gastrointestinal (GI) evaluation....
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226608
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Adult intussusception secondary to diverticular disease
    • Authors: Syed, H; Syed, L, Parampalli, U, Uheba, M.
      Abstract: 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.
      Keywords: Unusual association of diseases/symptoms
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226678
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Double trouble: exudative hypertensive retinopathy in a patient with
           retinitis pigmentosa
    • Authors: Kumawat, D; Kumar, V.
      Abstract: 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. Although CMO does not typically leak on fluorescein angiography in RP, this need not always be true. Clinical signs and fluorescein angiography help in the differentiation of macular oedema when more than one aetiology may be responsible.
      Keywords: Reminder of important clinical lesson
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226950
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Heterotopic ossification following anterior shoulder dislocation
    • Authors: Patel, P; Brkljac, M, Sonar, U, Kumar, S.
      Abstract: 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. He was managed conservatively with physiotherapy and non-steroidal anti-inflammatory drugs. At 1-year follow-up, the patient maintains a good functional outcome.
      Keywords: Unusual association of diseases/symptoms
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-226968
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Synchronous endometrioid carcinoma of the endometrium and small cell
           neuroendocrine carcinoma of the cervix: a rare combination
    • Authors: Nakra, T; Biswas, R, Pandey, R, Yadav, R.
      Abstract: 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.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227155
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Hydralazine-associated antineutrophil cytoplasmic antibody vasculitis with
           pulmonary-renal syndrome
    • Authors: Aeddula, N. R; Pathireddy, S, Ansari, A, Juran, P. J.
      Abstract: 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. We use this case to review the current literature and discuss and highlight the importance of a high degree of clinical acumen, early diagnosis and prompt treatment for better clinical outcomes.
      Keywords: Rare disease
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227161
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Primary varicella zoster infection with tongue lesions
    • Authors: Moylan, A; Karsten, E, Yeung, S, Cleugh, F.
      Abstract: Description  A 4-year-old girl presented to the paediatric emergency department with a 5-day history of a widespread vesicular rash associated with evolving tongue lesions (figure 1). Figure 1Appearance of tongue on day 5 of illness. On examination, she was systemically well with no fevers. She had extensive white dome-shaped papules on both sides of her tongue. These had reportedly appeared from the second day of her illness as pruritic vesicles which she had chewed on. She described her tongue as sore and had only been managing to drink small amounts. She had a generalised skin rash typical of primary varicella zoster infection with new crops of vesicles continuing to appear. She had a history of anaphylaxis to nuts and mild eczema that was well controlled but was not on any immunosuppressive therapy and did not have a history suggestive...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227265
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Thoracic splenosis: correct imaging diagnosis prevents invasive procedures
           like biopsy and thoracoscopy
    • Authors: Thampy, R; Thupili, C. R.
      Abstract: Description  A 48-year-old woman presented to the emergency department with acute shooting type of left-sided chest pain. There was no radiation of the pain to the arm, no aggravating or relieving factors. The patient denied cough, haemoptysis or weight loss. Medical history was significant for stage 2 breast carcinoma treated with radical mastectomy and radiotherapy 5 years ago. Since then she was on hormone therapy with tamoxifen. Investigations including routine blood counts, ECG and cardiac enzymes were normal. Chest radiograph did not reveal any abnormalities. CT scan of the chest with intravenous contrast revealed three enhancing pleural  based masses in the left hemithorax, measuring up to 2.6 cm in size. Initial diagnosis was pleural metastases from breast carcinoma and biopsy was considered. But the images also revealed bullet fragment in the thoracic spine and postsurgical changes of splenectomy. This raised the suspicion that the pleural masses could be due...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227355
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Phantom tumour and heart failure
    • Authors: Sandal, R; Jandial, A, Mishra, K, Malhotra, P.
      Abstract: Description  A 66-year-old man presented with progressive breathlessness for 1 week. Further history was consistent with orthopnoea and paroxysmal nocturnal dyspnoea. He was a known case of ischaemic heart disease, on medical management with poor compliance, for 5 years. On examination, blood pressure was 130/70 mm Hg, pulse rate 94 beats/min and respiratory rate 36 breaths/min with SpO2 92% at room air. He had raised jugular venous pressure (12 cm of water), bilateral pitting pedal oedema and bilateral basal crepitation on chest auscultation with gallop rhythm (LVS3). Echocardiography revealed systolic dysfunction with an ejection function of 30%–35%. His chest X-ray (posteroanterior view) showed well-defined biconvex opacity on the right side of the lung (figure 1A), and lateral view showed well-defined lenticular opacities along the transverse and oblique fissure (figure 1B). He was diagnosed as congestive heart failure with phantom tumour. The patient was started on a diuretic (furosemide 20 mg two...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227364
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Right coronary artery pseudoaneurysm post everolimus eluting stent
           implantation causing tamponade
    • Authors: Pandey, N. N; Sharma, A, Kumar, S.
      Abstract: Description  A 49-year-old man with triple vessel coronary artery disease underwent percutaneous coronary intervention. The right coronary artery (RCA) was treated with two platinum chromium everolimus-eluting stents (Promus Stent; Boston Scientific, Natick, Massachusetts, USA); 3.5x16 mm in proximal RCA and 3.5x38 mm in mid-to-distal RCA, respectively, with stenting of the left anterior descending (LAD) artery and first obtuse marginal artery (OM1) as well. The patient was readmitted a month later with chest pain and dyspnoea on exertion. On examination, the patient had tachycardia, elevated jugular venous pressures and mild hypotension. A catheter angiogram revealed a small pseudoaneurysm arising from the RCA with occluded mid RCA stent. In view of disproportionately severe symptoms compared with the size of the pseudoaneurysm and to delineate the anatomy of the pseudoaneurysm for planning management, a coronary CT angiography (CTA) was advised. CTA revealed patent proximal RCA stent, with near occlusion of the RCA just proximal to...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227714
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Paget-Schroetter syndrome
    • Authors: Fenando, A; Mujer, M, Rai, M. P, Alratroot, A.
      Abstract: Description  A 21-year-old woman presented to the hospital for right lower neck pain. The patient reported that the pain started after she attempted to stretch backward. In addition, she complained of pain and swelling over her right upper arm which started a day after the neck pain started. On admission, vitals were within normal limits. Physical examination was positive for erythema, swelling and tenderness in the upper right arm and right subclavicular region. CT angiography of the neck and CT of the cervical spine were unremarkable. Complete blood count and a complete metabolic panel were within normal range. Ultrasound venous of the right upper extremity showed a large echogenic thrombus of the right subclavian vein (figure 1). Given the above findings, further detailed history was obtained. The patient denied a family history of coagulation disorder. However, she admitted to being on oral contraceptive pills. Coagulation studies...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227754
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Phytophotodermatitis: still a poorly recognised diagnosis
    • Authors: Mateus, J. E; Silva, C. D, Ferreira, M, Porto, J.
      Abstract: Description  A 30-year-old man, forestry worker, with no medical history, presented acutely with pruritic erythematous streaks and bullae (figure 1) in linear configuration on his arms. On the previous day he had pruned branches from a fig tree and carried them with his forearms wearing a sleeveless shirt. Symptoms gradually resolved over 4 weeks of topical treatment with clobetasol propionate 0.05% cream (figure 2). Figure 1Bullae and irregular pigmented lesions on both arms. Figure 2Recovered skin 2 months later. Furocoumarins are botanical phytoalexins found in a wide variety of plants, including the fig tree (Ficus carita; Moraceae family), which may induce a skin photosensitivity reaction following ultraviolet A radiation exposure.1 2 The acute lesions often present with irregular erythematous streaks or bullae with sharp demarcation between lesional and...
      Keywords: Images in...
      PubDate: 2018-11-08T23:02:45-08:00
      DOI: 10.1136/bcr-2018-227859
      Issue No: Vol. 2018, No. nov08 1 (2018)
       
  • Recurrent complications of PAAG implants during lactation
    • Authors: Bourke, A. G; Jose, C.
      Abstract: A 35-year-old lactating woman with pre-existing polyacrylamide gel (PAAG) implants for 10 years presented on numerous occasions following both her pregnancies with bilateral recurrent breast infection, pain and finally massive breast enlargement with a ruptured galactocoele necessitating surgical intervention. As the safety of PAAG for the breastfeeding baby is not known, breastfeeding with PAAG implants is not recommended.
      Keywords: Rare disease
      PubDate: 2018-11-05T03:10:34-08:00
      DOI: 10.1136/bcr-2017-219688
      Issue No: Vol. 2018, No. nov05 1 (2018)
       
  • Repetitive transcranial magnetic stimulation (rTMS) as a treatment for
           chronic dizziness following mild traumatic brain injury
    • Authors: Paxman, E; Stilling, J, Mercier, L, Debert, C. T.
      Abstract: A 61-year-old man sustained a mild traumatic brain injury (mTBI) following a pedestrian versus vehicle traffic accident. Post injury, he began to experience symptoms including light-headedness, spatial disorientation, nausea, fatigue and prominent dizziness brought on by postural change, physical activity or eye movements. Symptoms of dizziness persisted for over 5 years, despite numerous extensive and rigorous vestibular and vision therapy regimens. All investigations suggested normal peripheral and central vestibular functioning. The patient underwent 10 sessions of repetitive transcranial magnetic stimulation (rTMS) treatment, with stimulation of the left dorsolateral prefrontal cortex at 70% of resting motor threshold and a frequency of 10 Hz. Dizziness symptom severity and frequency were reduced by greater than 50% at 3 months post treatment, with a clinically significant reduction of dizziness disability from 40 to 21 points on the Dizziness Handicap Inventory. We propose rTMS as a safe, effective and cost-effective treatment option for patients who experience persistent post-traumatic dizziness secondary to mTBI.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-05T03:10:34-08:00
      DOI: 10.1136/bcr-2018-226698
      Issue No: Vol. 2018, No. nov05 1 (2018)
       
  • Successful endoscopic management of efferent loop syndrome after Billroth
           II distal gastrectomy
    • Authors: Lim, D; Bain, K, Sinha, P.
      Abstract: Description  We present the case of a 60-year-old woman with gastric adenocarcinoma presenting for elective surgical resection. The patient underwent an uncomplicated distal gastrectomy with Billroth II reconstruction, and D2 lymphadenectomy. On postoperative day 3, an upper gastrointestinal series showed interval progression of oral contrast into the colon. The patient was subsequently started on a liquid diet. On postoperative days 4–6, the patient was unable to tolerate sufficient oral intake. A repeat upper gastrointestinal series was obtained (figure 1), with findings of obstruction of the efferent limb. The patient was taken for oesophagogastroduodenoscopy which demonstrated a stenosed Billroth II gastrojejunal anastomosis at the efferent limb site. The anastomosis was transversed, and a 2.3x10.5 cm WallFlex covered stent was placed under fluoroscopic guidance (figure 2). Figure 1Upper gastrointestinal series with findings suspicious for obstruction of the efferent limb. (A) Passage of contrast through...
      Keywords: Images in...
      PubDate: 2018-11-05T03:10:34-08:00
      DOI: 10.1136/bcr-2018-227167
      Issue No: Vol. 2018, No. nov05 1 (2018)
       
  • Use of mineral trioxide aggregate for retreatment of a tooth with large
           periapical lesion, wide-open apices and vertical root fracture
    • Authors: Pandey, P; Nandkeoliar, T, Bains, R, Singh, D.
      Abstract: Chronic periapical lesions in necrotic teeth with open apex are difficult to manage. The situation becomes more complex if the tooth has a fracture line. This case report describes the management of a traumatised tooth that had already undergone unsuccessful endodontic treatment with a large periapical lesion and open apex along with a fracture line in the root. An attempt was made to save the tooth by using mineral trioxide aggregate (MTA) cement for orthograde filling, retrograde filling and also for sealing of the fracture line. Moreover, the bone defect was filled with autogenous bone harvested from the external oblique ridge. MTA, a bioactive tricalcium silicate cement, has been used in treating complex endodontic cases as it shows promising potential by inducing the biological mechanisms necessary for repair of involved teeth. A 1-year follow-up showed progressive healing as evident by radiographs and lack of any clinical signs and symptoms.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-05T03:10:34-08:00
      DOI: 10.1136/bcr-2018-227627
      Issue No: Vol. 2018, No. nov05 1 (2018)
       
  • Adenobronchial fistula secondary to tuberculosis in an immunocompetent
           adult patient
    • Authors: Madrid Carbajal, C. J; Nava Tomas, E, Ariza Prota, M, Enriquez Rodriguez, A. I, Garcia Clemente, M.
      Abstract: Description  A 72-year-old patient, retired miner, with no history of interest, which comes for an irritative cough with dark expectoration of 9 months of evolution. On physical examination, the patient was haemodynamically stable, afebrile and without notable alterations. No alterations were observed in the blood analysis and chest X-ray. A sputum microbiological study was performed observing resistant alcohol-acid bacilli, with positive Xpert Mycobacterium tuberculosis (MTB)/Rifampicin (RIF) study and culture of mycobacteria with MTB isolate sensitive to all first-line drugs. A chest CT scan showed calcified mediastinal and bilateral hilar adenopathies, a bilateral micronodular interstitial pattern suggestive of pneumoconiosis and an increase in pseudonodular density with a bronchogram on right interior lobe (RIL) suggestive of an infectious process. An air cavity of subcarinal localisation with fistulisation to both main bronchi is observed in relation to adenopathy with necrosis (figure 1A). A bronchoscopy was performed in which a fistulous orifice with thick...
      Keywords: Images in...
      PubDate: 2018-11-03T04:00:47-07:00
      DOI: 10.1136/bcr-2018-225275
      Issue No: Vol. 2018, No. nov01 1 (2018)
       
  • Leptomeningeal metastases of a well-differentiated neuroendocrine tumour:
           a rare entity
    • Authors: Versluis, J; Brandsma, D, van den Berg, J, Tesselaar, M.
      Abstract: A 73-year-old man, without any medical history, had presented with dark urine and pale stool without pain. Diagnostic imaging revealed a tumour in the pancreas with liver metastases. Histopathological examination showed a well-differentiated pancreatic neuroendocrine tumour. After a stable 2.5 years on everolimus, progression of the liver metastases was seen and a switch was made to chemotherapy. Three months later, he developed progressive spinal neurological symptoms. MRI of the spine and brain revealed leptomeningeal contrast-enhancing lesions. Cytopathological examination of the cerebrospinal fluid showed malignant epithelial cells compatible with well-differentiated neuroendocrine tumour. Epithelial cell-adhesion molecule-based flow cytometry of the cerebrospinal fluid confirmed the presence of epithelial tumour cells. Based on these results, the diagnosis of leptomeningeal metastases of an originally well-differentiated neuroendocrine tumour of the pancreas was made.
      Keywords: Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
      PubDate: 2018-11-03T04:00:47-07:00
      DOI: 10.1136/bcr-2018-226557
      Issue No: Vol. 2018, No. nov01 1 (2018)
       
  • Delayed presentation of pulmonary artery perforation by an Amulet left
           atrial appendage closure device
    • Authors: Wang, E; Lin, W. W, Xu, X. F, Merry, C.
      Abstract: Left atrial appendage occlusion (LAAO) devices offer stroke prevention in atrial fibrillation for patients intolerant of anticoagulation. Device placement leading to bleeding and cardiac tamponade have been reported periprocedurally but delayed presentations have not been reported in the literature. We present the case of an Amulet LAAO device causing erosion and bleeding from the main pulmonary artery that presented with cardiac tamponade 6 months after device placement. The pulmonary artery defect was repaired primarily and buttressed with a pericardial patch with good result.
      Keywords: Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
      PubDate: 2018-11-03T04:00:47-07:00
      DOI: 10.1136/bcr-2018-227098
      Issue No: Vol. 2018, No. nov01 1 (2018)
       
  • Laparoscopic IPOM repair of an acquired abdominal intercostal hernia
    • Authors: Luqman, M. Q; Mughal, A, Waldron, R, Khan, I. Z.
      Abstract: Acquired abdominal intercostal hernia (AAIH) is an infrequent occurrence whereby intra-abdominal contents herniate into intercostal space directly from the peritoneal cavity through an acquired defect in the abdominal wall musculature and fascia. These hernias are difficult to diagnose and should always be suspected when a chest wall swelling occur after major or minor trauma. Surgical repair is warranted in symptomatic patients. The majority of AAIHs are repaired through an open approach using tension-free mesh, with significant recurrence risk. Recently, laparoscopic and robot-assisted repairs have been proposed. We discuss a 49-year-old man presented through outpatient setting with a 5-year history of ongoing left subcostal discomfort and a reducible lump. His history included a workplace accident 5 years ago. Contrast-enhanced abdominal CT confirmed AAIH with omentum herniation into the sac. A successful laparoscopic repair with intraperitoneal onlay mesh technique using composite mesh was performed.
      Keywords: Novel treatment (new drug/intervention; established drug/procedure in new situation)
      PubDate: 2018-11-03T04:00:47-07:00
      DOI: 10.1136/bcr-2018-227158
      Issue No: Vol. 2018, No. nov01 1 (2018)
       
  • Squamous cell carcinoma of male urethra presenting as urethrocutaneous
           fistula
    • Authors: Garg, G; Mehdi, S, Bansal, N, Sankhwar, S.
      Abstract: Description  A 65-year-old man was referred with non-healing wound in the perineum and passage of urine from wound for last 3 months. He initially presented with voiding lower urinary tract symptoms (LUTS) and perineoscrotal swelling to a local practitioner 3 months ago. The discharge card given to the patient mentioned that he underwent incision and drainage of the swelling under anaesthesia with suprapubic catheter placement. He also revealed history of two sessions of endoscopic dilatation performed 1 year ago. On local examination, there was normal external urethral meatus, presence of partially healed wound in the hemiscrotum with a hard indurated round partially healed wound at penoscrotal junction (figure 1). The inguinal lymph nodes were palpable and enlarged. History including local trauma, sexually transmitted diseases were unremarkable. His routine blood/urine examination was unremarkable. Further evaluation with retrograde urethrogram/micturating cystourethrogram showed evidence of urethrocutaneous fistula in the region of penobulbar urethra (figure 2). After proper...
      Keywords: Images in...
      PubDate: 2018-11-03T04:00:47-07:00
      DOI: 10.1136/bcr-2018-227447
      Issue No: Vol. 2018, No. nov01 1 (2018)
       
  • Neurocysticercosis: do not miss the eye
    • Authors: Bhattacharya, D; Ghosh, A.
      Abstract: Description  A 6-year-old girl presented with new-onset left focal seizures, and was started on valproate. There was no history of fever, headache, visual deficit and neurological examination was completely normal. Neuroimaging revealed ring enhancing lesion in the right parietal lobe. Ocular examination revealed visual acuity of 6/6 in both eyes, with no evidence of uveitis or other abnormality of the anterior segment. Fundus examination revealed hypopigmented area in left retina midway between fovea and optic disc. Optical coherence tomography (OCT) using Spectralis HRA-OCT revealed presence of scolex beneath the retinal pigment epithelium (figure 1A). A Child was started on oral prednisolone and albendazole, and a 28-day course was completed. Repeat OCT revealed resolution of the scolex (figure 1B) and neuroimaging showed disappearance of the ring-enhancing lesion. Figure 1(A) Optical coherence tomography showing scolex beneath the retinal pigment epithelium (B) Optical coherence tomography showing resolution of scolex...
      Keywords: Images in...
      PubDate: 2018-11-03T04:00:47-07:00
      DOI: 10.1136/bcr-2018-227869
      Issue No: Vol. 2018, No. nov01 1 (2018)
       
 
 
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