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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.

Rachael Hilton, Jefferson Berryman, Karina Handoyo

A patient with post-Cesarean wound complication was treated for necrotizing fasciitis (NF) with sharp debridement and broad-spectrum antibiotics. Several operations and three weeks later, her abdominal skin, subcutaneous fat, right-sided rectus abdominus, and underlying fascia had been removed without any improvement in granulation tissue. Original pathology samples demonstrated sheets of necrosis consistent with NF, but were re-reviewed by a dermatopathologist who diagnosed the patient with pyoderma gangrenosum (PG). She was started on high-dose steroids and dapsone, and her wound quickly showed signs of improvement. Anchor bias delayed the initiation of steroids and diagnosis of PG as the surgical, medical, and consulting teams were hesitant to stray from the diagnosis of NF.

Simon Bac, Dirk Jan Bac

We present the case of a patient who developed a liver abscess following screening colonoscopy. A colorectal screening program was introduced in the Netherlands in 2014 in order to reduce mortality from colorectal cancer. The patient in this report, a 63-year-old man with no significant medical history, underwent polypectomy of two polyps. Four days afterwards he presented to our emergency department with fever, nausea and vomiting. He was diagnosed with a Klebsiella pneumoniae liver abscess and was successfully treated with antibiotics for 6 weeks. This case highlights one of the risks of screening colonoscopy. Given the high number of colonoscopies due to the colorectal screening programs, we should be aware of complications in this mostly asymptomatic group of patients.

Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi, Filippo Crea, Raffaele Manna

Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipids and subsequent cellular dysfunction, inflammation and fibrosis. Fever is a frequently misinterpreted symptom in the early stages of the disease, leading to diagnostic delay. We present the case of a 35-year-old man admitted to our Periodic Fever Research Centre for long-lasting recurrent episodes of fever of unknown origin. After extensive assessment, we diagnosed AFD associated with a novel GLA mutation. We started enzyme replacement therapy with clinical benefit and complete remission of fever.

Sara Castelo Branco, Ana Teresa Ferreira, Sofia Saraiva, Mário Jorge Silva, Teresa Garcia

Candida infection of the gastrointestinal (GI) tract is rare in the immunocompetent individual. In immunocompromised patients, it frequently involves the oesophagus, but extra-oesophageal involvement is uncommon. We report a case of primary and isolated gastroduodenal candidiasis. Upper GI endoscopy with biopsy of gastric mucosa was crucial for making the diagnosis. The patient showed transient improvement after therapy with fluconazole.

Sara Ferreira, Margarida Freitas-Silva

Addison’s disease is an endocrine disorder characterized by primary adrenal insufficiency due to various causes. Mycobacterium tuberculosis infection was a major cause in the past but is rare nowadays. We describe a patient admitted to our hospital who was diagnosed with tuberculous Addison’s disease.

Takahiro Miyakoshi, Mamoru Satoh, Fumio Nomura, Takao Hashimoto, Toru Aizawa

Objective: To describe hypocalcaemia due to vitamin D deficiency in ‘hikikomori’ syndrome.
Materials and methods: A 37-year-old man with ‘hikikomori’ syndrome for a year was admitted with hypocalcaemia (serum ionic calcium 1.17 mmol/l). Serum 1,25(OH)2-vitamin D3 determined by liquid chromatography–tandem mass spectrometry was depressed at 12.1 pg/ml (29.0 pmol/l) and plasma intact PTH elevated at 324 ng/l. Administration of 1 μg/day 1α(OH)-vitamin D3 and 1 g/day calcium lactate for 1 week normalized calcium and PTH, and raised 1,25(OH)2-vitamin D3 to low normal levels.
Conclusion: This is the first report of hypocalcaemia due to vitamin D deficiency in a patient with ‘hikikomori’ syndrome.