BMJ Case Reports Last 6 Issues

Bilateral interstitial keratitis with anterior stromal infiltrates associated with reactive arthritis

Hsing, Y. E., Walker, J. — 2017-07-06T20:41:07-07:00

A previously healthy 48-year-old man presented with a 1-week history of migrating polyarthropathy preceded by a viral illness, dysuria and bilateral red eyes. Ocular examination revealed anterior and interstitial stromal keratitis. He was systemically well but had raised erythrocyte sedimentation rate and C reactive protein and was positive for human leucocyte antigen B27 on extensive infective, rheumatological and autoimmune investigations. Although the exact triggering pathogen was not identified, clinical findings were consistent with reactive arthritis. Bilateral interstitial keratitis is a rare manifestation of reactive arthritis which, along with the anterior stromal keratitis, responded well to topical prednisolone sodium phosphate 0.5%. Systemic joint symptoms improved on oral sulfasalazine, non-steroid anti-inflammatory agent and low-dose prednisolone.

Substantial harm associated with failure of chronic paediatric central venous access devices

Ullman, A. J., Kleidon, T., Cooke, M., Rickard, C. M. — 2017-07-06T20:41:07-07:00

Central venous access devices (CVADs) form an important component of modern paediatric healthcare, especially for children with chronic health conditions such as cancer or gastrointestinal disorders. However device failure and complications rates are high.

Over 21/2 years, a child requiring parenteral nutrition and associated vascular access dependency due to ‘short gut syndrome’ (intestinal failure secondary to gastroschisis and resultant significant bowel resection) had ten CVADs inserted, with ninesubsequently failing. This resulted in multiple anaesthetics, invasive procedures, injuries, vascular depletion, interrupted nutrition, delayed treatment and substantial healthcare costs. A conservative estimate of the institutional costs for each insertion, or rewiring, of her tunnelled CVAD was $A10 253 (2016 Australian dollars).

These complications and device failures had significant negative impact on the child and her family. Considering the commonality of conditions requiring prolonged vascular access, these failures also have a significant impact on international health service costs.

Transient neonatal hypercalcaemia secondary to excess maternal vitamin D intake: too much of a good thing

Reynolds, A., O'Connell, S. M., Kenny, L. C., Dempsey, E. — 2017-07-06T20:41:07-07:00

We report a case of transient neonatal hypercalcaemia secondary to excess maternal vitamin D intake in pregnancy. Vitamin D insufficiency and deficiency in pregnancy are associated with adverse pregnancy outcomes, but there is no definite benefit to supplementation. The Royal College of Obstetrics and Gynaecology recommends routine supplementation with vitamin D₃ 400 IU/day, but higher dose preparations usually recommended for the treatment of vitamin D deficiency are readily available over the counter. This case highlights the risks of excess supplementation, especially at higher doses and in women without evidence of vitamin D deficiency. The amount used in this case was at the upper end of the generally accepted safe dose range, but still less than that commonly recognised to cause problems. Neonatal hypercalcaemia is a potentially serious condition. The current local or national recommendations for vitamin D supplementation and the possible adverse effects of excess vitamin D consumption should be clearly communicated to pregnant women.

Sternoclavicular joint osteophytosis: a difficult diagnosis to swallow

Gill, J. R., Morrissey, D. I., Van Rensburg, L., Tytherleigh-Strong, G. — 2017-07-06T20:41:07-07:00

Unexplained dysphagia requires prompt investigation to rule out a possible underlying malignancy. We describe the case of a 60-year-old man who presented to his family practitioner with a 1-year history of increasing dysphagia with associated pain over the front of his chest. He was referred on to an ear, nose and throat specialist where no obvious laryngeal pathology was found at direct laryngoscopy, but an ‘indentation’ of the right anterior larynx, which increased with external pressure on the sternoclavicular joint (SCJ), was noted. A subsequent CT scan of his neck demonstrated osteoarthritis of the right SCJ with an abnormally large posterior osteophyte. The patient was subsequently referred on to an orthopaedic surgeon specialising in SCJ surgery and underwent an arthroscopic excision of his right SCJ. Soon after surgery, the patient’s dysphagia had settled and his symptoms remain resolved 1 year post surgery.

Isolated insulin-derived amyloidoma of the breast

Mayhew, J. M., Alan, T., Kalidindi, V., Gandamihardja, T. A. K. — 2017-07-06T20:41:07-07:00

Isolated amyloidomas derived from insulin are extremely rare, and there is only one reported case to date of insulin-derived amyloidoma in the breast.

We present the case of a 36-year-old woman reporting a lump in the right breast. It was clinically assessed as a probable fibroadenoma but was removed surgically given the size of the lesion. On histological analysis, the lesion had features consistent with amyloid. Further investigations showed the amyloid to be derived from insulin. The lump was removed in its entirety, and the patient made a full recovery.

Use of low-dose thrombolytics for treatment of intracardiac thrombus and massive pulmonary embolus after aborted liver transplant leads to recovery of right ventricular function and redo liver transplantation

Kafi, A., Friedman, O., Kim, I. — 2017-07-06T20:41:07-07:00

This is a 61-year-old man with end-stage liver disease who experienced cardiac arrest secondary to a massive pulmonary embolus and intracardiac thrombus during cannulation for veno-venous extracorporeal membrane oxygenation (ECMO) in preparation for orthotopic liver transplantation (OLT). Surgery was aborted and the patient was taken back to the intensive care unit in cardiogenic shock on multiple vasopressors. The patient was unresponsive to heparin bolus and too high risk for systemic thrombolytics or embolectomy. He was ultimately treated with 12 mg total of alteplase through his pulmonary artery catheter over 3 hours. He had subsequent resolution of his cardiogenic shock and proceeded with successful liver transplantation 5 days after his initial event without any bleeding complications. Low-dose thrombolytic therapy in the setting of absolute contraindications to thrombolysis allowed for recovery of cardiac function and, ultimately redo OLT in a patient with otherwise little hope of survival.

Contribution of arterial spin-labelling MRI in a case with immune reconstitution inflammatory syndrome

Wada, N., Noguchi, T., Aoki, T., Tajima, T. — 2017-07-06T20:41:07-07:00

Central nervous system immune reconstitution inflammatory syndrome (CNS-IRIS), which occurs most often in HIV-infected patients, is an exacerbation of inflammatory reactions related to opportunistic infections as well as primary CNS malignancies both of which mostly occur in HIV-infected patients. However, differential diagnoses are challenging both clinically and radiologically. We describe a patient with CNS-IRIS due to toxoplasmosis whose ¹¹C-methionine uptake suggested lymphoma but whose arterial spin-labelling MRI led to the correct diagnosis.

Persistent sacral chloroma in refractory acute myelogenous leukaemia

McCarty, S. M., Kuo, D. J. — 2017-07-06T20:41:07-07:00

Acute myelogenous leukaemia (AML) is a clonal process involving the myeloid subgroup of white blood cells. Chloromas, or myeloid sarcomas, are masses of myeloid leukaemic cells and are a unique aspect of AML. This case involves a 14-year-old boy with AML who presented with multiple chloromas at diagnosis. The patient’s extra-calvarial masses and bone marrow involvement responded to chemotherapy; however, his sacral epidural chloromas persisted despite four courses of chemotherapy. The central nervous system, bone marrow and testes have been known to be sanctuary sites for AML. This case illustrates that the sacral spinal canal may potentially be a sanctuary site for the disease process also.

Cryptococcal meningitis causing obstructive hydrocephalus in a patient on fingolimod

Pham, C., Bennett, I., Jithoo, R. — 2017-07-06T20:41:07-07:00

Cryptococcosis is a recognised opportunistic infection in immunocompromised patients. The long-term adverse effect profile of fingolimod, an immunomodulating agent approved for use in multiple sclerosis in 2010, is only just emerging. We report the first case to our knowledge of a patient presenting with obstructive hydrocephalus secondary to cryptococcal meningitis in the setting of fingolimod therapy. Extensive posterior fossa leptomeningeal inflammation with associated cerebellar oedema resulted in effacement of the fourth ventricle and obstructive hydrocephalus requiring urgent ventriculostomy. Induction, consolidative and maintenance antifungal therapy was prescribed and subsequent conversion to a ventriculoperitoneal shunt was successful in relieving the patient’s ventriculomegaly. Awareness of these rare, novel and life-threatening complications of fingolimod-associated immunocompromise is critical as the use of such drugs is expected to rise.

Vascularisation of the anterior lens capsule in an eye with excellent visual acuity

Walkden, A., Tan, S. Z., Au, L., Mercieca, K. — 2017-07-06T20:41:07-07:00

A 53-year-old phakic female with a history of nanophthalmos and hyperopia was incidentally found to have unilateral neovascularisation on the left inferoanterior lens surface on routine review for ocular hypertension.

Diencephalic syndrome: a rare cause of failure to thrive

Tosur, M., Tomsa, A., Paul, D. L. — 2017-07-06T20:41:07-07:00

Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive (FTT) because of its rarity and lack of specific symptoms. Herein, we report two cases of diencephalic syndrome (2-year-old girl and 10-month-old boy) presenting with severe emaciation. Both patients had histories of poor weight gain for months despite having good appetites prior to diagnosis. Initial work-up did not reveal the diagnosis. Horizontal nystagmus was noted in both patients: by a neurologist in the first patient and by a family member in the second patient. MRI of the brain showed large suprasellar mass and pilocytic astrocytoma was confirmed by pathology in each case. The patients were started on appropriate chemotherapy with interval improvements in weight gain. These cases illustrate the importance of cranial imaging and consideration of diencephalic syndrome for children presenting with FTT despite normal or increased caloric intake.

Adrenal crisis in metastatic breast cancer

Doleschal, B., Petzer, A., Aichberger, K. J. — 2017-07-06T20:41:07-07:00

A female patient with oestrogen receptor-positive and human epidermal growth factor receptor 2 (HER2)-positive invasive lobular breast cancer presented with progressive disease on CT scan. Some days after initiation of antineoplastic chemotherapy and anti-HER2 targeted antibody therapy, the patient presented with profuse diarrhoea, neutropaenia, nausea and weakness. Although Clostridium difficile was rapidly tackled as a causative agent of gastrointestinal complaints, clinical situation did not markedly improve despite proper antimicrobial treatment. The patient reported profound lack of energy, while nausea, vomiting and loose stools still persisted. Additionally slightly exaggerated pigmentation of nonsunexposed skin and mucosal areas led us to the assumption of proopiomelanocortin-derived peptide hypersecretion. The combination of highly elevated adrenocorticotropic hormone and low basal cortisol levels taken from a morning blood sample established the diagnosis of adrenal insufficiency due to metastatic burden, leading to a near Addison crisis by gastrointestinal complications of chemo-immune therapy. Administration of hydrocortisone immediately relieved general symptoms .

Intraparenchymal pericatheter cyst in ventriculoperitoneal shunt failure

Wallace, D. J., Grandhi, R. — 2017-07-06T20:41:07-07:00

Description

A 60-year-old man status post right parieto-occipital ventriculoperitoneal shunt with programmable valve for indication of delayed hydrocephalus after aneurysmal subarachnoid haemorrhage returns to clinic 7 weeks after placement for insidious onset of headaches, confusion and gait imbalance. CT scan of the head without contrast revealed an intraparenchymal pericatheter cystic collection with severe oedema (figure 1). The patient denied systemic signs of illness, and laboratory markers for infection were low. A tap of the shunt reservoir revealed no spontaneous flow and difficulty in aspirating cerebrospinal fluid (CSF). Laboratory analysis of the fluid showed negative Gram stain, normal chemistry profile and cell counts. MRI of the brain showed a simple cyst with significant oedema, but no restricted diffusion or contrast enhancement of the cyst wall (figures 2 and 3). CT of the abdomen was benign, without evidence of pseudocyst or other cause of distal obstruction.

...

Hiding in plain sight: a case of chronic disseminated histoplasmosis with central nervous system involvement

Thind, G. S., Patri, S. — 2017-07-06T20:41:07-07:00

A 64-year-old man presented with gradual onset of confusion, ataxia and 25-pound weight loss over 3 months. MRI of the brain revealed two enhancing cerebellar lesions suspicious for metastases. Positron emission tomography-CT showed enhancement of cervical and axillary lymph nodes. Left axillary lymph node biopsy showed no evidence of malignancy but instead showed fungal organisms morphologically consistent with Histoplasma spp. Disseminated histoplasmosis with central nervous system involvement was suspected. Further history revealed that the patient had been having subjective fever for the past several months. He has had mild pancytopenia for about 2 years, which had not been further evaluated. Additionally, he had an oesophagogastroduodenoscopy 3 months prior to admission, which had shown granulomatous gastritis. Subsequently, the diagnosis of disseminated histoplasmosis was confirmed by serological testing and bone marrow biopsy. The patient was started on liposomal amphotericin B. Unfortunately, the patient had a catastrophic stroke and was transitioned to comfort care measures.

Skin eruption and long-lasting fever in a young man

Minet, M., Hanset, N., Yombi, J. C., Yildiz, H. — 2017-07-06T20:41:07-07:00

Description

A 20-year-old man presented to emergency room with a 3-week history of general weakness, fever, diffuse arthralgia and skin eruption. His medical history was unremarkable; he did not travel recently, had no contact with an ill person, nor had risky sexual behaviour and took no medication. Physical examination only showed a diffuse, non-painful, infracentimetric and non-confluent macular eruption over the trunks and limbs (figures 1 and 2). Blood test showed elevated C reactive protein and neutrophilic leucocytosis. Serologies for hepatitis C and B viruses, rubella, Epstein-Barr virus, cytomegalovirus, toxoplasmosis and HIV were negative. Urinalysis and chest X-ray were normal. Blood cultures became positive for Neisseria meningitidis, whereas skin biopsy only showed a dermic inflammatory polymorphic (lymphocytic and neutrophilic) infiltrate without specificity with negative aerobic and anaerobic cultures.

Figure 1

Macular lesions on the trunk.

Figure 2

Macular lesions...

'Scissor deformity of the toes

Rastogi, A., Bhansali, A. — 2017-07-06T20:41:07-07:00

Description

A 63-year-old woman presented with an unusual foot deformity involving the left first and second toe causing persistent pain (subjective functional grade 1),1 difficulty in walking and inability to accommodate the foot in regular footwear. She has type 2 diabetes mellitus for the past 8 years and sensorimotor peripheral neuropathy as assessed by vibration perception threshold >25 mV, absence of Semmes-Weinstein monofilament perception and absent ankle reflex. She was a home maker and wore footwear with thumb-hold most of the time. On examination, she had severe hallux valgus (HV) (Manchester Scale: severe score=3)², anatomical grade 11 and over-riding of second toe over the great toe causing ‘scissor deformity’ (figure 1). In addition, she had hammer and claw toe deformity involving other digits. She was provided with modified footwear to accommodate great toes with a bunion aid.

Figure 1

Both feet showing...

Cupping at the ends of ribs is not always rickets

Jindal, A. K., Rawat, A. — 2017-07-06T20:41:07-07:00

Description

A 7-week-old baby boy presented with a history of cough, loose stools and respiratory distress since last 7 days. At admission he had a respiratory rate of 64/min, a heart rate of 144/min and an oxygen saturation of 56%. Chest examination revealed crepitations in both lung fields. Rest of the examination was unremarkable. Investigations revealed haemoglobin 82 g/L; white cell count 11.2x10⁹/L (differential counts: polymorphs 68%, lymphocytes 1%, monocytes 26% and eosinophils 5%); absolute lymphocyte count 0.11x10⁹/L; platelet count 102x10⁹/L and C reactive protein 239 g/L. Chest X-ray showed non-homogenous opacities in bilateral lung fields (more on right side) with an absent thymic shadow, cupping at the anterior end of ribs (black arrow, figure 1), flattening of lower end of the right scapula (white arrow, figure 1) and a spur at the inferior-lateral angle of the left scapula (white arrow head, figure 1). These characteristic radiological changes (ie, cupping at...

A rare case of malposition of central venous catheter detected by ultrasonography-guided saline flush test

Kumar, N., Kaushal, A., Dev Soni, K., Tomar, G. S. — 2017-07-06T20:41:07-07:00

Central venous catheter (CVC) insertion is associated with many potential complications; malposition of the catheter is one of them. A chest X-ray is routinely done to detect the malposition of catheter, but sometimes it has been seen that X-ray is time-consuming and its accuracy is also low for determining the exact position of the catheter tip. In our case, an ultrasonography (USG)-guided CVC was placed into the right internal jugular vein of the patient. As there was no ECG change obtained during insertion of guidewire and catheter, malposition was suspected, which was easily detected by a novel USG-guided saline flush test. We present a case report where USG was used for detection of a misplaced CVC (from right internal jugular vein to right subclavian vein). With ultrasound, the location of the catheter tip can be confirmed in very less time compared with chest X-ray.

Renal keratinising desquamative squamous metaplasia: all that hurts is not stone

Koratala, A., Qadri, I., Bird, V., Ruchi, R. — 2017-07-06T20:41:07-07:00

Description

A 66-year-old Caucasian man with history of hypertension, hyperlipidaemia and 16 pack-year smoking was referred to us for evaluation of recurrent right-sided flank pain and suspected nephrolithiasis. His first episode of pain was 2 years prior to presentation, which was recurrent. There was no associated haematuria, dysuria, fever, chills, urinary hesitancy or incontinence. There was no family history of stones. He underwent multiple ureteroscopies, which have shown glistening, soft, acellular debris in the upper ureter. Last ureteroscopy and pyeloscopy showed normal underlying mucosa, renal pelvis and calyces with no evidence of malignancy. Subsequent MRI also did not show any malignancy. The last available pathology showed minute fragments of acellular keratin debris. Interestingly, he never had imaging evidence of renal stone, although had mild hydronephrosis one time. CT urogram demonstrated an ill-defined filling defect in the anterior right renal pelvis measuring approximately 13x3 mm in axial dimensions (figure 1). During...

A rare case of Epstein-Barr virus mucocutaneous ulcer of the colon

Osman, M., Al Salihi, M., Abu Sitta, E., Al Hadidi, S. — 2017-07-06T20:41:07-07:00

Epstein-Barr virus mucocutaneous ulcer (EBVMCU) is a rare form of EBV lymphoproliferative disorder. The disease was recently described in 2010 for the first time in a case series and it was recently identified by the WHO classification of haematological malignancies as a separate category among the EBV lymphoproliferative disorders. We present a case of EBVMCU of the colon presenting as an ulcerating inflammatory mass in a female in her mid-60s who presented initially with abdominal pain and diarrhoea. The patient had extensive workup for her disease and due to progression of her symptoms, she was taken for an exploratory laparotomy. During the procedure, there was an inflammatory mass at the caecum and severe inflammation of the caecum and the terminal ileum and right hemicolectomy was performed. Diagnosis was confirmed by histopathology as EBV-positive lymphoproliferative disorder best classified as EBV-positive mucocutaneous ulcer.

Macular phlebitis in a case of dengue retinopathy

Roy, S., Takkar, B., Chawla, R., Kumar, A. — 2017-07-06T20:41:07-07:00

Description

A 32-year-old woman presented with sudden onset 1 day prior of painless diminution of vision in both eyes. The patient had developed an acute febrile illness a week prior and had been diagnosed with dengue fever (DF) after serological testing was positive. At its nadir, her platelet count had been 30 000/µL. On presentation, she was afebrile, and her platelet count was 60 000/µL.

On ocular examination, the best corrected visual acuity (BCVA) was 20/80 in the right eye and 20/200 in the left eye. The anterior segments and intraocular pressures were normal in both eyes. Fundus examination with slit-lamp biomicroscopy revealed perifoveal haemorrhages with scattered white-coloured exudates in the macula of both eyes (left>>right). Detailed magnified examination showed perivascular exudation surrounding the postcapillary venules of the fovea along with macular oedema of both eyes (left>>>right) (figure 1A, B). The patient was diagnosed with phlebitis secondary to DF.

Two otherwise healthy young brothers present with intermittent claudication, just a coincidence?

Clifford, T., Moore, J. — 2017-07-06T06:24:36-07:00

Popliteal artery entrapment syndrome (PAES) is a recognised cause of lower limb peripheral arterial disease in young adults. We describe the cases of two otherwise healthy brothers who presented with the condition 5 years apart. The first brother, who is also the first author of this case report, presented aged 19 with worsening, right-sided, exercise-induced lower leg pain and transient foot pallor. Imaging confirmed PAES and irreversible localised arterial damage. Surgery was performed to release the entrapment and resect the section of diseased artery. The limb was revascularised using an autologous interposition saphenous vein graft. The second brother began experiencing left-sided, exercise-induced lower leg pain aged 24. Again, imaging revealed PAES and irreversible arterial damage. A similar revascularisation procedure was performed. Both siblings fully recovered and are symptom free. Arterial duplex scans have confirmed patent grafts. A correlation in siblings has only been reported in the literature five times previously.

Idiopathic abdominal cocoon: a rare presentation of small bowel obstruction in a virgin abdomen. How much do we know?

Al-Azzawi, M., Al-Alawi, R. — 2017-07-06T06:24:36-07:00

Abdominal cocoon is an extremely rare condition that has been mainly associated with young adolescent women. It was first described in 1978 by Foo et al. We present here a case that describes an otherwise healthy adult man who presented with intestinal obstruction and was found to have an abdominal cocoon, also known as a peritoneal sac. The patient was taken for a laparotomy and the sac was released through blunt dissection along the avascular planes. He was discharged in good condition 3 days postoperatively. We discuss some of the current literature and previously reported cases on this condition.

Neonatal alloimmune thrombocytopaenia associated with maternal HLA antibodies

Wendel, K., Akkök, C. A., Kutzsche, S. — 2017-07-05T02:06:26-07:00

Neonatal alloimmune thrombocytopaenia (NAIT) generally results from platelet opsonisation by maternal antibodies against fetal platelet antigens inherited from the infant’s father. Newborn monochorionic twins presented with petechial haemorrhages at 10 hours of life, along with severe thrombocytopaenia. Despite the initial treatment with platelet transfusions and intravenous immunoglobulin, they both had persistent thrombocytopaenia during their first 45 days of life. Class I human leucocyte antigen (HLA) antibodies with broad specificity against several HLA-B antigens were detected in the maternal serum. Weak antibodies against HLA-B57 and HLA-B58 in sera from both twins supported NAIT as the most likely diagnosis. Platelet transfusion requirements of the twins lasted for 7 weeks. Transfusion of HLA-matched platelet concentrates was more efficacious to manage thrombocytopaenia compared with platelet concentrates from random donors. Platelet genotyping and determination of HLA antibody specificity are needed to select compatible platelet units to expedite safe recovery from thrombocytopaenia in NAIT.

Traumatic myositis ossificans circumscripta (MOC)

Landolsi, M., Mrad, T. — 2017-07-05T02:06:26-07:00

We report a case of a 29-year-old man who had been a victim of a public road accident. Four weeks later, the patient developed an isolated right thigh mass located ventrally in the distal one-third of the thigh. The mass was painful and associated with fever and inflammatory syndrome. Plain radiographs showed a bilateral calcified thickening of soft tissues with well-defined bony margins. Ultrasound objectified diffuse calcifications of soft tissues.CT scan-confirmed the diagnosis of myositis ossificans circumscripta, showing a bilateral thickening of the vastus intermedius chief of the quadriceps dotted with calcifications, extending along the femur axis. These calcifications have well-defined bony margins separated from the periosteum by a lucent zone.

Guillain-Barre syndrome in association with antitumour necrosis factor therapy: a case of mistaken identity

Patwala, K., Crump, N., De Cruz, P. — 2017-07-05T02:06:26-07:00

Guillain-Barré syndrome (GBS) is an immune-mediated disease characterised by evolving ascending limb weakness, sensory loss and areflexia. Two-thirds of GBS cases are associated with preceding infection. However, GBS has also been described in association with antitumour necrosis factor (TNF) therapies including infliximab and adalimumab for chronic inflammatory disorders such as rheumatoid arthritis, ankylosing spondylitis and inflammatory bowel disease. We present the case of a patient who developed GBS while undergoing treatment with adalimumab in combination with azathioprine for severe fistulising Crohn’s disease, and review the literature on neurological adverse events that occur in association with anti-TNF therapy. We also propose an approach to the optimal management of patients who develop debilitating neurological sequelae in the setting of anti-TNF therapy.

Neuroblastoma like schwannoma: a diagnostic challenge

Sharma, P., Chatterjee, D., Das, A. — 2017-07-05T02:06:26-07:00

Description

A 21-year-old man presented with a subcutaneous swelling in the right forearm for 5 years, which was excised and subjected for histopathological examination. Grossly, it was an encapsulated globular tissue measuring 1.5x0.8x0.7 cm, with a greyish-white firm cut surface. Microscopically, it was composed of spindle-shaped cells having elongated nuclei with pointed ends, arranged in Antoni A and Antoni B patterns (figure 1). The central portion showed many large rosette like structures, composed of small round cells radially arranged around a central fibrocollagenous core (figure 2). These small cells were monomorphic, round to slightly elongated, with hyperchromatic nuclei and scant amount of cytoplasm, resembling lymphocytes. Masson’s trichrome stain highlighted the central collagenous network (figure 3). Immunohistochemiscal results showed that these cells were strongly positive for S-100 with both cytoplasmic and nuclear staining (figure 4) and were negative for neuron-specific enolase, smooth muscle actin...

Synchronous urinary bladder metastasis of chromophobe renal cell carcinoma

Bansal, D., Singh, P., Nayak, B., Kaushal, S. — 2017-07-05T02:06:26-07:00

Urinary bladder metastasis in patients with renal cell carcinoma is rare and until now <70 cases have been documented in literature. Majority of these reported cases were histologically clear cell variant of renal cell carcinoma. Urinary bladder metastasis of chromophobe variant of renal cell carcinoma is extremely rare and is limited to only isolated case reports. We present here a case of a man aged 24 years who was diagnosed to have a left renal mass and right renal calculi on evaluation for complaints of left-sided abdominal pain and was incidentally detected to have suspicious bladder lesions during cystoscopy. Postoperative histopathology from the renal mass as well as the urinary bladder lesions showed chromophobe variant of renal cell carcinoma. The patient did not develop any recurrence on follow-up.

Visible pulsus parvus et tardus in patient of aortic stenosis

Singh, P. K., Jangpangi, G. — 2017-07-05T02:06:26-07:00

Description

A 35-year-old male presenting with 1-year history of shortness of breath and angina on exertion. On examination, he was noted to have pulsatile neck vessels and ejection systolic murmur as shown in video 1. Possibilities kept for pulsatile neck vessels were aortic regurgitation (AR; dancing carotid), tricuspid regurgitation (TR; c-v waves), third-degree heart block (canon a wave) and thoracic aortic aneurysm. Two-dimensional (2D) echocardiography was done which ruled out any AR, TR lesions and showed presence of severe aortic stenosis in four-chamber view video 2 with severity confirmed in Doppler parasternal long-axis view video 3.

Video 1

Showing regularly pulsating neck vessels with highest impact in suprasternal notch and radiating to lateral as well as superior aspect.

Video 2

Apical five-chamber view showing dilated and hypertrophied left ventricular cavity and dilated left atrial cavity, also showing thickened and calcified...

Giant a waves

Burgess, T. E., Mansoor, A. M. — 2017-07-05T02:06:26-07:00

Description

A 24-year-old man with a bioprosthetic tricuspid valve related to a history of infective endocarditis secondary to intravenous drug use was admitted to the hospital with fever and dyspnoea over the course of 2–3 weeks in the context of recidivism. On examination, the temperature was 38.0°C and the respiratory rate 24 breaths per minute. Qualitative analysis of the jugular venous waveform revealed the usual components, including two peaks, the a and v waves, and two troughs, the x and y descents. However, the first peak was more pronounced than usual, an abnormality known as a giant a wave. These waves coincided with a late diastolic murmur heard over the left lower sternal border that augmented with inspiration (see video 1). Blood cultures grew methicillin-sensitive Staphylococcus aureus. Transthoracic echocardiography demonstrated a large vegetation on the bioprosthetic tricuspid valve with an associated mean transtricuspid valve gradient of 17 mm Hg,...

Shell in the rectum

Shibaike, Y., Hirosawa, T., Shimizu, T. — 2017-07-05T02:06:26-07:00

Description

A 67-year-old man with Down syndrome with intellectual disability presented with fever and cough. He denied abdominal pain or any change in bowel movement. His abdominal examination was unremarkable. A contrast-enhanced CT of the chest and abdomen performed for the fever work-up incidentally revealed a sharp-edged foreign body in the rectum without perforation (figure 1, online . A colonoscopy disclosed a conch shell, 5 cm in length, caught in the rectum (figure 2). Further history clarified that he mistakenly swallowed the chopstick rest made with a shell at a restaurant in Ishigaki Island, Okinawa, Japan. His fever was attributed to pneumonia, and after intravenous antibiotic therapy for several days the fever remitted. He was transferred to his residential facility. He was concluded as having swallowed shell, which transferred to the rectum after his swallowing.

Figure 1

Pelvic CT showing a sharp-edged foreign body.

...

An unusual cause of finger swelling

Fester, A., Tukur, G., Paddock, M. — 2017-07-04T04:03:11-07:00

Description

A 7-year-old South Asian boy was evaluated in a district general child assessment unit following a 4-week history of daily fevers with associated pain and swelling in the thumb and middle finger phalanges of the right hand. There was no history of cough, weight loss, night sweats or trauma. On examination, he appeared well with no anaemia or jaundice. There was a spindle-shaped deformity of the right thumb and middle finger, with concomitant non-tender right axillary lymphadenopathy. No other joints were affected. The rest of the physical examination was unremarkable.

Radiographs of the affected fingers demonstrated fusiform soft tissue swelling (Figure 1A) with smooth periosteal reaction (Figure 1B). Subsequent CT of the thorax demonstrated necrotic axillary (Figure 2A) and hilar lymphadenopathy (Figure 2B) with ‘tree-in-bud’ change in the superior segment of the left lower lobe (Figure 1C).

...

Limitations of routine skeletal survey: detection of critical but asymptomatic cervical spine lesion in multiple myeloma

Batool, S. S., Iftikhar, A., Ahmad, A. N., Anwer, F. — 2017-07-04T04:03:11-07:00

Description

A 67-year-old asymptomatic man was found to have a total plasma protein level of 10.2 mg/dL on routine work-up. Serum protein electrophoresis (SPEP) revealed an M spike of 4 g/L and an elevated IgG level of 4759, and free kappa chain of 170.72 (H), free lambda chain of 3.15 (L) and kappa:lambda ratio of 54.20. Bone marrow biopsy showed a kappa light chain restricted plasma cell neoplasm involving 20%–30% of marrow cellularity. Fluorescence in situ hybridisation (FISH) test demonstrated polysomy of chromosome 9 in 70%, trisomy 11 in 57% and trisomy 7 in 50.5% of cells. Skeletal survey showed generalised mild osteopaenia with heterogeneous appearance of the osseous structures and a suspicious lytic lesion in the pelvis. To investigate bone lesion, full-body positron emission tomography scan demonstrated multiple hypermetabolic skeletal lesions, with the dominant one involving the C2 vertebra showing a maximum standardised uptake value (SUV) of 11, suggesting viable myeloma. Neck CT confirmed lytic lesions...

A rare case of thrombotic microangiopathy triggered by acute pancreatitis

Singh, K., Nadeem, A. J., Doratotaj, B. — 2017-05-15T20:00:23-07:00

Thrombotic microangiopathy (TMA) occurring after acute pancreatitis is rarely described. Without prompt intervention, TMA can be, and often is, lethal, so prompt recognition is important. Here, we present a case of a 61-year-old woman with a history of alcohol misuse who presented with epigastric pain, nausea and vomiting after binge drinking. Elevated serum lipase and imaging were suggestive of acute-on-chronic pancreatitis. Although the patient’s symptoms of acute pancreatitis subsided, her anaemia, thrombocytopenia and acute kidney injury worsened. A peripheral blood smear revealed schistocytes, prompting suspicion for TMA. Therapeutic plasma exchange (TPE) was promptly initiated and she completed 10 TPE sessions that improved her anaemia and serum creatinine and resolved the thrombocytopenia. Since TPE was effective and the ADAMTS13 assay revealed 55% activity in the absence of anti-ADAMTS13 IgG prior to initiation of therapy, a confident diagnosis of TMA caused by acute pancreatitis was made. There was no evidence of relapse 2 years later.

Mitral valve vegetation diagnosed with oesophageal ultrasound with bronchoscope (EUS-B)

Kattoor, A. J., Rochlani, Y. M., Kuriakose, K., Meena, N. K. — 2017-05-15T20:00:23-07:00

Oesophageal ultrasound with bronchoscope (EUS-B) is designed to evaluate mediastinal structures. We describe a case of a 78-year-old woman who presented with altered mental status for 2 weeks. CT head revealed a subacute infarct in the right middle cerebral artery distribution. She was also found to have a lung mass on chest imaging. EUS-B-guided fine needle aspiration demonstrated the presence of adenocarcinoma in station 7 lymph node and in the mass. Immunohistochemistry confirmed it to be a lung primary as the Thyroid Transcription Factor-1 (TTF-1) was strongly positive. During the procedure, the cardiac valves were evaluated, and a mitral valve vegetation was noted. Formal echocardiography confirmed the presence of the vegetation. During hospital stay, the patient developed fever. Her blood cultures grew oxacillin-resistant Staphylococcus aureus. She was subsequently treated for infective endocarditis. We suggest that the use of EUS-B to routinely scan adjacent structures during a procedure may help obtain additional clinical information that may be critical to patient management.

Anaemia and respiratory failure in a child: can it be idiopathic pulmonary haemosiderosis?

Ahmed, M., Raj, D., Kumar, A., Kumar, A. — 2017-05-15T20:00:23-07:00

We present an 8-year-old male child admitted with cough and high-grade fever for 7 days and respiratory difficulty for 2 days. There was a history of blood transfusion at 2 years of age during a respiratory illness. The child was anaemic, tachycardic, tachypnoeic and hypoxic at presentation. Chest examination revealed equal air entry with fine crackles bilaterally. Blood reports were suggestive of anaemia (haemoglobin 6.5 g/dL), leucocytosis and high C reactive protein levels. Chest radiograph revealed bilateral air space opacities involving diffuse lung fields, right more than left. Relevant microbiological workup was negative. Based on the clinical scenario and investigations, a provisional diagnosis of pulmonary haemosiderosis was kept. The patient was started on intravenous pulse methylprednisolone. Fibre-optic bronchoscopy was done following recovery from the acute event. Bronchoalveolar lavage demonstrated a significant number of haemosiderin-laden macrophages confirming pulmonary haemosiderosis.

Novel use of combination of electromyography and ultrasound to guide quadratus lumborum block after open appendicectomy

Mullins, C. F., O'Brien, C., O'Connor, T. C. — 2017-05-15T20:00:23-07:00

The quadratus lumborum (QL) block facilitates the administration of anaesthesia to the anterior abdominal wall. The use of ultrasound (US) improves the accuracy of the QL block and reduces the risk of adverse events. Electromyography (EMG) in combination with US for muscle plane blocks has not been described previously. We postulated that the addition of EMG-guided needle positioning might assist the execution of this block. This case report describes the first use of combined needle EMG and US to carry out a QL block performed for postoperative analgesia following an open appendicectomy.

Uncommon presentation of adult-form scimitar syndrome associated with single left pulmonary vein in a pregnant woman

Althomali, S. A., Alhefny, A. A., Almalki, M. S. — 2017-05-15T20:00:23-07:00

Scimitar syndrome is the constellation of malformations including an abnormal venous drainage of the right lung into the inferior vena cava, associated with the right lung and systemic supply to the right lung. The anomalous vein looks like the curved, Turkish sword (scimitar), hence the name.

The adult form of scimitar syndrome is rare, and it is usually an incidental diagnosis based on the characteristic finding on radiological imaging since the patients are usually asymptomatic or with minimal symptoms.

Our patient presented with a rare presentation of scimitar syndrome, which is tachyarrhythmia (sinus tachycardia, with episodes of supraventricular tachycardia). The diagnosis of scimitar syndrome was made based on the typical radiological finding of the anomalous venous drainage on CT angiography. Our patient does not have the full spectrum of the scimitar syndrome; therefore, she did not suffer from the usual complication (pulmonary hypertension). She was treated with ablation without surgical intervention.

Pericardial incidentaloma: benign pericardial cyst

Lin, A. N., Lin, S., Lin, K., Raju, F. — 2017-05-15T20:00:23-07:00

Description

A 73-year-old woman with hypertension and atrial fibrillation presented with head and neck injury after mechanical fall. During workup, chest X-ray anteroposterior view (figure 1) revealed a rounded opacity silhouetting the left heart border and hilum. Subsequent contrast-enhanced CT of the chest showed single, 6.4 cm, rounded, well-defined, thin-walled, non-enhanced, low attenuated (–20 and 20 Hounsfield Unit) and homogenous cyst-like structure at the left mediastinum connected to pericardial recesses and not attached to adjacent structures (figure 2A–C). Transthoracic echocardiogram ruled out left ventricular aneurysm, aortic aneurysm, solid tumour and outflow tracts obstruction. Although bronchogenic cyst, oesophageal duplication cyst, thymic tumour and mediastinal lymphoma were considered as possible differentials, radiological features such as CT appearance, homogenous attenuation, unrelated to the underlying structures favoured pericardial cyst. Since patient was asymptomatic, patient and family member were unwilling to undergo surgical removal and pathological confirmation. Follow-up with non-enhanced CT of...

Mitral Stenosis

Oehler, A. C., Sullivan, P. D., Mansoor, A. M. — 2017-05-15T20:00:24-07:00

Description

A previously healthy 29-year-old Mexican woman presented to an emergency department with transient hemiparaesthesias and dysarthria. There was no evidence of stroke on cross-sectional imaging of the head, and she was discharged without a clear diagnosis. Two days later, she returned with acute abdominal pain. Abdominal imaging revealed complete occlusion of the right renal artery, prompting emergency embolectomy. Following the procedure, she developed acute haemoptysis, dyspnoea and hypoxaemia. Chest imaging demonstrated evidence of pulmonary venous hypertension. Cardiac auscultation revealed an opening snap followed by a diastolic murmur with presystolic accentuation. These sounds were better appreciated in combination with phonocardiography, a technique supplanted by echocardiography in the 1970s1 that visualised heart sounds (video 1). An echocardiogram confirmed the presence of mitral stenosis (MS), unifying the syndrome of embolic phenomena, haemoptysis and pulmonary hypertension. She underwent successful mitral valve replacement and has since returned to normal...

Double hit lymphoma presenting as haemophagocytic lymphohistiocytosis

Rivera, X. I., McGhan, L. J., Schatz, J. H., Puvvada, S. D. — 2017-05-15T20:00:23-07:00

Description

A 67-year-old woman with history of severe rheumatoid arthritis and use of multiple biologics including infliximab, tocilizumab and abatacept presented with fever of 39.1°C and severe pancytopenia (white blood cell count (WBC)=1.0x10⁹/L, absolute neutrophil count (ANC)=0.55x10⁹/L, haemoglobin=8.7 g/dL, platelets=46x10⁹/L). As part of the pancytopenia evaluation, imaging (CT of the chest, abdomen and pelvis) showed diffuse lymphadenopathy. Further evaluation revealed an elevated ferritin (8564 ng/mL), hypofibrinogenaemia (fibrinogen=95 mg/dL), elevated triglycerides (399 mg/dL) and a soluble interleukin 2 receptor level of 41 167 units/mL, satisfying diagnostic criteria for haemophagocytic lymphohistiocytosis (HLH). A subsequent bone marrow biopsy also revealed morphological evidence of haemophagocytosis (figure 1A), in addition to a population of very large and atypical mononuclear cells with markedly irregular, folded nuclear contours, prominent nucleoli and moderate amounts of cytoplasm (figure 1B,C). A similar large cell infiltrate was identified in the left axillary lymph node, causing complete effacement of nodal architecture (figure...

When cancer patients suddenly have a positive pregnancy test

Groza, D., Duerr, D., Schmid, M., Boesch, B. — 2017-07-01T04:22:22-07:00

We present the case of non-small cell lung cancer (NSCLC) in a 48-year-old woman with an active history of smoking. The patient initially presented to her general practitioner with a progressive swelling on the neck. Further investigations diagnosed a metastatic lung tumour, and palliative chemotherapy was started. After 5 months of treatment, by newly reported amenorrhoea, cautiously before a restaging CT scan of the abdomen, a pregnancy test was performed and was positive. Both the gynaecological examination and the hormonal panel yielded no signs of pregnancy. Immunohistochemically, staining of the tumour was strongly positive for β-subunit of human chorionic gonadotropin (β-hCG) suggesting that the tumour was responsible for high β-hCG levels.

Paraneoplastic β-hCG secretion from adenocarcinomas is rare. In the literature, only a few such cases have been reported. Previous studies suggested that the ability to secrete β-hCG in tumours may correlate to some extent to chemoresistance and thus, to a worse prognosis.