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  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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..

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • Joana Sá Couto, Luis Pontes dos Santos, Joana Carlos Alves, Raquel López, Cristina Maldonaldo

    Although crystalluria is a frequent finding in the routine examination of urine, amoxicillin crystalluria is a rare event whose incidence remains unknown. Crystalluria caused by amoxicillin is very uncommon and may be asymptomatic or have severe renal implications. The authors describe the case of an 87-year-old female patient who presented with massive amoxicillin crystalluria due to poor hydration, low urinary pH and high intravenous amoxicillin dosage.

  • Rosalie Koot, Marcel van Borren, Hans de Boer

    Liraglutide, a glucagon-like peptide-1 (GLP-1) analog, is increasingly used in obese patients with type 2 diabetes mellitus (T2DM) in doses of up to 3.0 mg/day because of its attractive pharmacological profile. It is currently not known how to proceed with this medication during fasting for surgery. Discontinuation is likely to result in hyperglycaemia, while continuation might lead to hypoglycaemia, but, in view of its mode of action, continuation of GLP-1 analogs is likely to be safe. However, as evidence-based guidelines on GLP-1 management during perioperative fasting are not available, the safety of either policy needs to be confirmed on an individual basis. We therefore decided to perform a preoperative assessment of the glucose response to fasting during continuation of GLP-1 before giving a recommendation in individual cases. So far, 12 severely obese T2DM patients scheduled for bariatric surgery have been evaluated preoperatively by measuring glucose and insulin levels during a 32-hour fast with continuation of liraglutide. Hypoglycaemia was not observed. This suggests that liraglutide in doses of up to 3.0 mg can be safely continued during surgery without risking hypoglycaemia.

  • Patrícia Afonso Mendes, Tatiana Cunha Pereira, Rui Pina, Rui Marques Santos

    Chlorpyrifos is an organophosphate compound recognized as causing acute toxicity. However, organophosphate-induced delayed polyneuropathy (OPIDP), although rare, has also been described. We describe an unusual presentation of OPIDP with flaccid quadriplegia progressing to a locked-in-like syndrome, 30 days after a 60-year-old man voluntarily ingested chlorpyrifos. In the absence of specific treatment, the patient only recovered partial motor responses and the ability to communicate. The authors present this report in order to highlight a form of OPIDP which can hinder diagnosis due to its atypia and the delay in the onset of symptoms from initial contact with the toxicant.

  • Abdalla Khalil, Mohammed Bafaraj, Badr Badr, Majduldeen Azzo, Ahmed Sabry

    Introduction: Missing a leaking abdominal aortic aneurysm (AAA) is common in medical practice because few at-risk patients have a history of AAA and many have an unusual presentation.
    Background: AAA is less common among Asians than white Caucasians of the same age. Our patient had no significant risk factors apart from age and sex and had an unusual presentation.
    Patient and Methods: A 67-year-old Asian man presented to the emergency room (ER) with a 1-day history of nausea, vomiting, diarrhoea, fever and abdominal pain. He was febrile, dehydrated. and had marked tenderness at the right iliac fossa. Laboratory findings suggested bacterial gastroenteritis but this did not explain the localized tenderness at the right iliac fossa.
    Result and Discussion: A CT scan of the abdomen revealed an AAA arising above the origins of the renal arteries, an intramural thrombus, a retroperitoneal haematoma and a leak extending to the right iliac fossa. The patient was transferred to another hospital and underwent exploratory laparotomy, surgical repair of the aneurysm, and aortobi-iliac grafting with removal of the thrombus. The patient was discharged in good shape 3 weeks after surgery. Without the CT scan of the abdomen, the AAA could have been missed and the patient treated for severe gastroenteritis.

  • Abuajela Sreh, Shailesh Nakeshree, Senthil-Kumar Krishnasamy, Nuri Alfasi

    This case demonstrates the therapeutic challenges encountered when managing an acute pulmonary embolism in a cancer patient with thrombocytopenia. A 64-year-old man with a history of lung cancer receiving chemotherapy was admitted to Walsall Manor Hospital with haemodynamic instability consistent with a pulmonary embolism, proven on computed tomographic pulmonary angiogram. His platelet count was noted to be 35×109/l (chemotherapy-induced thrombocytopenia). After discussions, he was deemed not suitable for thrombolysis based on risk versus benefits. The patient was initially transfused one adult dose of platelets and treated with half the therapeutic dose of low molecular weight heparin (LMWH). The same management plan was followed until the platelet count exceeded 50×10sup>9/l, after which the patient was established on the full therapeutic dose of LMWH. Clinically, the patient improved and was discharged. Three months after discharge, follow-up revealed sustained clinical improvement while the patient continued to be on the full therapeutic dose of LMWH with a stable platelet count.