Vol. 5 No. 3
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Groove pancreatitis (GP) is a very infrequent subtype of chronic pancreatitis affecting the pancreatic-duodenal junction. It usually manifests in middle-aged men with a history of chronic alcoholism, though it has also been described in women and in individuals who do not consume alcohol. Even though the underlying etiology is unclear, chronic alcohol consumption is known to increase the viscosity of the pancreatic juice and exacerbate the inflammatory process. We present a case of GP that posed diagnostic difficulties because it manifested as ascites and duodenal thickening, with pancreatic imaging findings initially normal.
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Introduction: Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at time of diagnosis and is associated with a dismal outcome.
Background: A 76 year old gentleman presenteded with a one month history of fatigue and exertional dyspnoea. Laboratory investigations indicated an anaemia, with a haemoglobin level of 11.0g/dl. Subsequent gastroscopy visualised a large, atypical, crater-like ulcerated lesion distal to the cardia in the proximal stomach.
Provisional histology was suggestive of a poorly differentiated adenocarcinoma but subsequent cyto-morphology and immunophenotyping were consistent with melanoma, with positive S100 protein, HMB45 and Melan A. Further molecular genetic testing revealed a V600R mutation in the BRAF gene, which is the first primary gastric melanoma with this mutation to be reported in the literature. Given the rarity of the findings, an extensive secondary work-up was undertaken, which concluded the diagnosis primary gastric melanoma. Discussion: Primary gastric melanoma is a rare disease that can present similarly to other upper gastrointesinal lesions, with weight loss, abdominal pain, malena, and anaemia. Given its rarity, the pathogenesis is poorly understood. Lesions are often endoscopically atypical. Important points to note would include the absence of a primary lesion, as supported by a full skin examination and PET-CT findings, which can help to delineate the limitation to the stomach, thus helping to inform subsequent management.
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We present the case of a 57-year-old man with ataxia and clinical and radiological features of cerebellar degeneration. A computed tomography showed a mediastinal mass. The patient was diagnosed of thymic carcinoma. paraneoplastic cerebellar degeneration is an unfrequent disorder, and its association with thymic carcinoma is very rare.
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Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.
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Little has been documented about hypersensitivity reactions caused by treatment with rivaroxaban. This paper reports a bullous pemphigoid-like skin eruption that occurred in a 76-year-old female patient during rivaroxaban treatment. This case highlights the vigilance required by healthcare workers in recognising potential adverse effects of newly marketed drugs and in making medication changes when necessary. A bullous pemphigoid-like eruption due to treatment with rivaroxaban has not, to the best of the Authors’ knowledge, been reported previously in the literature.
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Immune thrombocytopenia (ITP) related to Mycoplasma pneumoniae infection is a rare condition and usually associated with a severe clinical course. We here report a case of a young man with a clinical diagnosis of severe ITP secondary to M. pneumoniae infection. The clinical features, therapy and outcome are presented.
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Abdominal aortic aneurysms are defined as vascular dilatations greater than 50% of the normal proximal segment or those that have a maximum diameter above 3 cm. Risk factors include male gender, age over 75 years, history of vascular pathology, hypertension and arteriosclerosis. The Authors describe a case of a 74-year-old man, evaluated in an emergency setting for right lumbar pain lasting 4 days. The pain did not respond to analgesia and became progressively worse. Due to the severity of symptoms, CT angiography was performed, which showed an active rupture of a partially contained aneurysm associated with aortic dissection. Early diagnosis and timely management of aortic aneurysms are essential in preventing complications, namely rupture (50-83% patients die after rupture and before receiving medical care). Acute aortic dissection is a surgical emergency and the risk of rupture is proportional to the size of the aneurysm and its rate of growth.
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Klebsiella pneumoniae invasive syndrome (KPIS) is a rare clinical condition characterized by primary liver abscess associated with metastatic infection. Most case reports are from Southeast Asia, with only one case described in Portugal. The Authors present the case of a 44-year-old man with a history of fever, dry cough and cervicalgia. A thoracic computed tomography (CT) scan showed multiple pulmonary and hepatic nodules, suggestive of metastatic malignancy. Both blood cultures and bronchoalveolar lavage were positive for Klebsiella pneumoniae. Imaging studies were repeated during his hospital stay, showing a reduction in both number and volume of identified lesions, thus revealing their infectious nature. This case illustrates how much this entity can mimic other illnesses.