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Mikkel Brabrand, Jan Dahlin, Marianne Fløjstrup, Stine Thorhauge Zwisler, Jens Michelsen, Louise Gramstrup Nielsen, Jens Ahm Sørensen

Objective: Necrotizing fasciitis is a difficult diagnosis with a very high mortality. However, thermal imaging has the potential to identify increasing skin temperature and rapid progression.
Materials and methods: We used repeat photographs taken with a thermal camera to visualize changes in skin temperature over time.
Results: An unstable male patient presented at the emergency department. Thermal imaging showed increased skin temperature of his left foot with a rapid increase and progression in extent within 1 hour. Necrotizing fasciitis was suspected and later confirmed.
Conclusions: We believe thermal imaging could be an important adjunct for the diagnosis of suspected necrotizing fasciitis.

Laura Virginia Gonzalez, Andrew Whitehead

Platypnoea-orthodexia syndrome is a rare cause of dyspnoea when hypoxaemia is induced by the upright position and relieved by recumbency. We report two cases in which platypnoea-orthodexia syndrome was present and caused by two different mechanisms: intracardiac shunt and intrapulmonary shunt.

Inês Almeida Costa, Margarida Alvelos, Paulo Bettencourt

Hypocalcaemia is known for its neuromuscular symptoms, which are rapidly alleviated by intravenous supplementation. Calcium is also essential for both cardiac cell excitability and contraction. We present a case of acute heart failure due to hypocalcaemia in a young male with a complex medical history.

Matthieu Barras, Marc Uhlmann

Bleomycin lung toxicity is well established and can manifest as bleomycin-induced pneumonitis, but pneumomediastinum and pneumothorax are very rare complications. We report the case of a 73-year-old woman, recently treated with bleomycin for Hodgkin’s disease, who was admitted for bleomycin-induced pneumonitis. Two weeks later she had a pneumomediastinum with extensive subcutaneous emphysema and small bilateral pneumothoraces. Three months after that she was readmitted for dyspnoea. The CT scan showed complete regression of the pneumomediastinum but extensive bilateral ground-glass infiltrates. The patient died from respiratory failure 2 weeks later.

Luigi Petramala, Federica Olmati, Antonio Concistrè, Vincenza Saraceno, Gino Iannucci, Antonio Ciardi, Giorgio De Toma, Claudio Letizia

Introduction: Pheochromocytoma (PHEO) is a rare catecholamine-producing tumour arising from chromaffin cells in the sympatho-adrenal system, and can present as asymptomatic adrenal incidentaloma (AI).
Patient: We describe the case of a 61-year-old woman with a right adrenal mass incidentally discovered, who was biochemically characterized with subclinical hypercortisolism (SH). The patient was scheduled for adrenalectomy because of increasing seizure of the right adrenal gland with a haemorrhagic and focal pseudocystic appearance macroscopically, incidental histological and immunohistochemical PHEO, and micronodular cortico-adrenal hyperplasia.
Discussion: This report describes a rare case of incidental non-functioning PHEO coexisting with corticomedullary hyperplasia and SH.

Lorenzo Morini, Davide Donelli, Rosaria Santi, Chiara Trenti, Giuseppe Battaglino, Francesco Iannuzzella, Emanuele Alberto Negri

Background: Milk-alkali syndrome is a life-threatening condition defined by the triad of hypercalcaemia, metabolic alkalosis and acute renal failure, and is associated with consumption of calcium and absorbable alkali.
Methods: We report the case of a patient admitted to a step-down unit of a large hospital in Italy.
Results: The patient was a 59-year-old woman with hypoparathyroidism and mild chronic kidney insufficiency, treated for a preceding episode of hypocalcaemia with high doses of calcitriol and calcium carbonate, who was also taking hydrochlorothiazide and unreported herbal anthranoid laxatives. The patient was admitted to hospital with severe hypercalcaemia, severe metabolic alkalosis and acute renal insufficiency. The patient was successfully treated with urgent dialysis, loop diuretics and calcitonin administration.
Conclusions: This case underlines the need for caution when treating patients with impaired calcium metabolism regulation, and suggests that herbal anthranoid laxatives might act as triggers for milk-alkali syndrome..

Hamza Sanoussi, Najla Kourireche, Latifa Oukerraj, Mohammed Cherti

Light-chain (AL) amyloidosis is the most common type of amyloidosis; cardiac involvement is rare but has a poor prognosis. Biventricular hypertrophic cardiomyopathy is an exceptional finding in amyloidosis and its association with obstructive right ventricular gradient is even rarer. We report the case of a male patient with biventricular hypertrophy suggesting amyloidosis, with an obstructive gradient in the right ventricle.

Imen Akkari, Soumaya Mrabet, Elhem Ben Jazia

Henoch-Schönlein purpura is an IgA-mediated immune vasculitis which is characterized by purpuric lesions and osteoarticular, intestinal and sometimes renal manifestations. The histopathological substrate of this entity is leucocytoclastic vasculitis (LCV) with IgA deposits seen on immunohistochemistry. We here report the case of a 27-year-old woman with abdominal pain and cutaneous purpura. Upper and lower endoscopic exploration showed purpuric lesions in the rectum but not in the stomach. Skin biopsy revealed LCV. IgA deposits were seen only in gastric mucosa. The patient was treated with corticoids which led to improvement of both the cutaneous and digestive symptoms. This case suggests that gastrointestinal biopsies of both normal and abnormal mucosa should be taken in Henoch-Schönlein purpura, especially in patients with atypical forms.

Marta Catarino Manso, Diogo Paixão Marques, Sara L. Rocha, Simão C. Rodeia, Raquel Domingos

Senile systemic amyloidosis is caused by a non-mutated form of transthyretin with the heart being the major organ involved. This infiltrative cardiomyopathy usually presents as slowly progressive heart failure.
An 82-year-old female patient was admitted for newly diagnosed heart failure. A year later she presented with decompensated heart failure and syncope. Inpatient work-up showed persistently elevated troponin and N-terminal-pro BNP levels, rapid progression to severe left ventricular concentric hypertrophy, and sinus pauses on the Holter. Cardiac MRI revealed diffuse late gadolinium enhancement in the left ventricle. The demonstration of amyloid protein with the clinical findings and complementary investigations allowed for the diagnosis of senile systemic amyloidosis.

Martin Edward Perry, Sarah Cooper, Shona Corry

Syphilis is one of the oldest described infectious diseases in the world and is caused by the spirochete bacterium Treponema pallidum[1]. Although now a rare disease, incidence is increasing with the number of diagnoses of the disease rising in England from 1688 to 2713 between 2003 and 2012 (a 61% increase)[2]. Major outbreaks of syphilis have been documented in London, Manchester, Dublin, and Brighton particularly among men who have sex with men (MSM)[3]. Diagnosis remains difficult on account of multi-system symptoms, duration of the condition, and social stigma.

Francisco Javier Ros Forteza

Cerebral small vessel disease (SVD) affects the small arteries, arterioles, venules and capillaries in the brain and can be identified clinically and/or radiologically. We describe the case of a 71-year-old man with sporadic cerebral SVD who presented with acute paraplegia with urinary incontinence and recent cognitive impairment that developed after the occurrence of ischaemic lesions.

Juliana Silva, Neusa Guiomar, Marisa Passos Silva, Daniel Caeiro, Vasco Gama

Interrupted aortic arch (IAA) is a rare congenital abnormality with only a few cases reported in adults. It is defined as complete loss of continuity between the ascending and descending portions of the aorta, and is usually associated with other cardiac defects. The diagnosis in adults should be suspected in the presence of refractory hypertension, a careful physical examination being crucial to early diagnosis. Magnetic resonance angiography (MRA) techniques can accurately characterize cardiovascular anatomy, and also provide information regarding heart chamber and valve function.

Chiao-Ching Li, Chiao-Zhu Li, Sheng-Tang Wu, Tai-Lung Cha, Shou-Hung Tang

A 71-year-old man presented with spondylodiscitis with epidural and psoas muscle abscesses following transrectal ultrasound (TRUS)-guided prostate biopsy. These rare complications were detected by computed tomography of the abdomen and magnetic resonance imaging of the lumbar spine. The patient was successfully treated with antibiotics and underwent neurosurgery. Awareness of presentations such as backache and weakness of the lower limbs after prostate biopsy is important as these symptoms are usually mistaken for bone or muscle problems and often not recognized as being related to infection.

Martin Edward Perry, Shazmeen Surtee, Zainab Nawaz

We describe a 40-year-old lady who presents with a painful white tongue on exposure to the cold. The differential diagnosis and investigations are outlined with a discussion about this unusual presentation of a common problem.

Sara Ferreira, Paula Vaz-Marques

Tuberculosis remains a concern in patients receiving anti-TNF therapy as these individuals have a higher incidence of extrapulmonary and disseminated tuberculosis. Tuberculous tonsillitis is an unusual presentation of extrapulmonary tuberculosis, which is diagnosed mostly in immunodeficient patients. We report the case of a 33-year-old woman, diagnosed with Behçet’s syndrome, immunosuppressed with adalimumab, cyclosporine and prednisolone. She had odynophagia for 2 weeks, fever and a hypertrophied, ulcerated left tonsil. A tonsil biopsy revealed a granulomatous inflammatory process. Ziehl-Neelsen staining was positive for acid-fast bacilli. The chest x-ray revealed a milliary pattern. Gastric juice was positive for Mycobacterium tuberculosis complex DNA. A diagnosis of tonsillar and pulmonary tuberculosis was established. This case report highlights the low threshold for a tuberculosis diagnosis in unusual locations in patients treated with anti-TNF therapy. 

Marco Enzo Tau, Melissa Cocca

A healthy 44-year-old man, with a typical presentation of exertional heatstroke, presented with an increase in serum procalcitonin (PCT) levels. Suspecting a coexisting infection, the emergency physician started empirical antibiotic treatment and obtained samples for culture. The antibiotic treatment was stopped immediately after ward admission due to lack of signs of infection. The patient recovered completely after several days of rehydrating therapy and cultures remained negative for bacterial growth. PCT elevation is typically found with heatstroke, but this association is rarely found in daily practice due to the futility of PCT testing in this situation. Increased serum PCT levels in the context of heatstroke must not lead to an unsupported alternative diagnosis and useless investigations, tests and treatment.

Eilis McCarthy, Muneeb Mustafa, Mike Watts

Granulomatosis with polyangitiis (GPA) is a systemic small and medium vessel vasculitis, commonly associated with anti-neutrophil cytoplasmic antibodies (ANCAs). Presenting signs and symptoms in GPA are varied and patients may present with constitutional, non-specific symptoms, which can delay the diagnosis. Tissue biopsy of the site of active disease can confirm the diagnosis of GPA, in which necrotising granulomatous inflammation is seen. However, surrogate markers may be used for diagnosis without a tissue biopsy. They include upper and lower airway symptoms, signs of glomerulonephritis and a positive ANCA. However, approximately 10–20% of patients with GPA are ANCA negative, allowing for the diagnosis to be overlooked, particularly in those patients with non-specific findings. The reason for the absence of ANCAs is unclear.

Tjitske Berends-De Vries, Susan Boerma, Joan Doornabal, Bert Dikkeschei, Coen Stegeman, Thiemo Veneman

A young male patient with rapidly progressive and life-threatening pulmonary haemorrhage due to anti-glomerular basement membrane (anti-GBM) antibody disease without renal involvement repeatedly tested negative for serum anti-GBM antibodies. Although rare, anti-GBM antibody disease should be considered in the differential diagnosis in patients with life-threatening pulmonary haemorrhage due to isolated diffuse alveolar haemorrhage. Enzyme-linked-immunosorbent assay (ELISA) testing for anti-GBM antibodies in anti-GBM antibody disease can give false-negative results. A negative serum anti-GBM antibody test is therefore insufficient to exclude the diagnosis. Thus, a kidney or lung biopsy should be considered in any case with a high clinical suspicion but negative anti-GBM antibody test to confirm or rule out the diagnosis.