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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.

Alexandre Malek, Krystel Aouad, Rana El khoury, Maya Halabi-Tawil, Jacques Choucair

Background: Mercury is a highly toxic environmental metal that exists in three different forms: elemental, inorganic and organic. Intoxication occurs in either occupational or non-occupational settings, mainly after the inhalation of vapour and fumes in work places, laboratories or homes. Chronic mercury toxicity ranges from mild and insignificant to severe and life-threatening. We describe the case of a young male patient who presented with multiple organ dysfunction after chronic mercury exposure.
Case presentation: We report the case of 28-year-old male artisanal gold miner who was admitted to hospital for severe neurological impairment associated with inflammatory bowel disease-like symptoms and a skin rash after mercury exposure. Symptomatic treatment and corticosteroid administration assured rapid clinical improvement. Chronic mercury poisoning can masquerade as an autoimmune or systemic inflammatory disease.
Conclusion: Physicians should be aware that low exposure to mercury, even from artisanal gold mining, may be harmful to health. Management can be simple without the need for aggressive or invasive therapeutic measures. Larger case series are required in order to establish a clear management plan.

Maria Lobo Antunes, Gonçalo Cabral, Raquel Tavares, Carla Noronha, José Araújo

Aortitis results from aortic inflammation, frequent causes being infections and rheumatological disorders. The authors report the case of a 33-year-old black male with recent arterial hypertension, who presented with recurrent abdominal pain, jaundice, anorexia, weight loss and diarrhoea. Laboratory work-up was compatible with inflammatory anaemia and obstructive jaundice, while abdominal imaging revealed a dilated biliary tract, no visible gallstones, cephalic pancreatic globosity and aortic thickening. Pancreatic aspirate was negative for malignant cells, bacteria and Mycobacterium tuberculosis. The jaundice spontaneously subsided and the pancreatic globosity improved over time. Following positive PPD and IGRA, isoniazid was started. However, follow-up investigations revealed a severe bulbar stenosis with intense eosinophilic infiltrate, multiple non-necrotizing granulomas, and thoracic and abdominal aortitis not previously recognized. Immunological profile (ECA, ANCA and IgG4), eggs and parasites in stool samples were negative. The multisystemic disease, with an insidious and migrating behaviour, gastrointestinal and vascular involvement, granulomatous inflammatory response and tissue eosinophilia, raised the suspicion of a parasitic infestation (despite negative screening) or vasculitis. After 7 days of empirical treatment with albendazole and ivermectin, the patient passed a specimen of Ascaris lumbricoides in the stool and improved clinically.

Abuajela Sreh, Nithyananda Rajaiah, Mohammad Saim

A 34 year-old Afro-Caribbean female presented with recurring episodes of fever and lower abdominal pain over a period of two months not improving despite courses of antibiotics for possible recurrent urinary tract infections. On admission to hospital, patient was treated for a possible pyelonephritis or pelvic inflammatory disease (PID). Extensive investigations into possible source of infection were carried out. However, all of the repeated microbiological cultures were normal. Patient was investigated further for other possible causes including connective tissue disease, haematological disorders, or neoplasm, all of which were normal. Diagnosis of adult onset Still’s disease (AOSD) was confirmed by a rheumatologist based on Yamaguchi’s diagnostic criteria for AOSD alongside significantly raised serum ferritin. Patient was treated with steroids to which she showed remarkable clinical improvement alongside marked reduction in her serum ferritin levels.

Babar Ahmad Khan, Sania Hanif Khan, Anuj Vikrant Sharma

In 1934 Lemmel was the first to report the presence of juxtapapillary diverticula and hepatocholangiopancreatic disease, excluding cholelithiasis. Obstructive jaundice caused by periampullary duodenal diverticulum (PAD) in absence of choledocholithiasis or tumor is known as Lemmel syndrome. A patient with an extraluminal duodenal diverticulum presenting with obstructive jaundice and pancreatitis is presented in this case. Although initially managed conservatively, the patient had recurrence of symptoms after 2 months but then had successful surgical resection of the duodenal diverticulum.

Phivos Costas Symeonides

Introduction: A 47-year-old Caucasian woman with a past medical history of multiple ablative procedures for supraventricular arrhythmias and pacemaker implantation presented with increasing shortness of breath. The initial working diagnosis of the team treating her was ablation-induced pulmonary stenosis, especially after the recording of increased flow velocities through the right lower pulmonary vein.
Case presentation: The patient was alert and oriented, but obviously dyspnoeic. The vital signs were normal. The physical examination revealed a soft cardiac systolic murmur and the lungs were clear on auscultation. The electrocardiogram showed a pacemaker rhythm. The echocardiogram showed borderline normal global systolic function of the left ventricle and severe mitral regurgitation. The transoesophageal echocardiogram confirmed the above findings and revealed increased velocities through the right lower pulmonary vein. The working diagnosis of ablation-induced pulmonary stenosis was reinforced by the cardiac CT angiography. The patient was subsequently referred for surgical intervention. The intra-operative findings were both unexpected and impressive: congenital partial absence of the pericardium was responsible for herniation of the right chambers into the pleural space. Mitral regurgitation was attributed to failure of coaptation due to the very short surface of the leaflets. Extensive external fibrosis around the pulmonary veins caused the pulmonary vein stenosis.
Conclusion: The final diagnosis of a partial pericardial defect causing torsion and distortion of the heart chambers was made only at surgery. The consistent finding of pulmonary vein stenosis in the non-invasive modalities and the past medical history of ablations initially misleadingly led us to the assumption that they were related.

Emilie Chalayer, Aude Pelissier, Bernard Tardy

AFIP1L1-PDGFRA fusion can only be confirmed through molecular and cytogenetic investigations causing a delay in the diagnosis. However, patients with this mutation need urgent treatment because they present hypereosinophilia which may be associated with short-term tissue damage. Thromboembolism is a known cause of death in hypereosinophilic syndrome. A case of Loeffler endocarditis due to FIP1L1-PDGFRA-associated chronic eosinophilic leukemia presenting hemiparesis with fever, which also mislead the initial diagnosis, is reported.

Antreas Iacovou Ioannou, Dimitra Dimitriou, Panagiotis Dimitriou, Aram Katsios, Georgios Petrikkos

Aims: Lemierre syndrome is a life-threating condition characterized by recent oropharyngeal infection, internal jugular vein thrombosis, and anaerobic septicemia. It is usually caused by Fusobacterium necrophorum.
Methods: A young Romanian male presented with fever and rigors, mild tachypnea, hypoxia, sore throat, decayed teeth, and tenderness of the left carotid triangle. Laboratory examination indicated severe sepsis with disseminated intravascular coagulation, acute renal failure, and acute respiratory distress syndrome while the Doppler ultrasonography of the carotids revealed left internal jugular venous thrombosis. The patient was administered piperacillin/tazobactam and vancomycin intravenously, doxycycline orally, and anti-coagulation by enoxaparin based on the diagnosis of Lemierre syndrome. Meanwhile, he was complicated by bilateral diffuse pulmonary cavities and encapsulated pleural effusions and so transcutaneous drainage was performed. The patient was discharged after a month and continued his treatment with oral phenoxypenicillin and doxycycline until full radiographic improvement. He was switched to oral anti-coagulation by vitamin-K antagonists and was referred to a hematologist, a vascular-surgeon, and a dentist.
Results: Streptococcus gordonii was isolated from the patient’s blood and pleural fluid cultures and serology for Rickettsial spp. IgM was positive. Thrombophilia genetic tests revealed three minor mutations for fibrinogen-455, plasminogen activator inhibitor-1, and methylenetetrahydrofolate reductase. According to the literature, S. gordonii is not usually a causative agent and Rickettsial spp. have as yet not been correlated with Lemierre syndrome. The failure of left jugular vein recanalization shows a possible causative role of the underlying thrombophilic predisposition.
Discussion: Because of the syndrome’s rarity and the atypical microorganisms isolated in this case, increased awareness is advised for its diagnosis and the underlying mechanisms involved in its genesis. The role of anti-coagulation is debatable.

Kapil Kumar Garg, Harpreet Singh

Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare and benign source of lymphadenopathy first described in 1969. This disease commonly presents in children and young adults with supra-diaphragmatic lymphadenopathy mainly at cervical nodal sites, composed of a polyclonal population of histiocytes. Since its description greater than 400 cases have been described, however the literature is quiet scanty when it comes to its association with lymphomas. This case report describes a case with co-existing SHML and anaplastic large cell lymphoma (ALCL). The diagnosis of SHML in our patient did not alter the clinical outcome and patient responded well to treatment of ALCL. Clinicians should maintain a high index of suspicion in cases of infra-diaphragmatic SHML for the presence of occult lymphoma.

Kenta Hamada, Yoji Takeuchi, Tomofumi Akasaka, Hiroyasu Iishi

We describe the case of a man with fundic gland polyposis associated with proton-pump inhibitor (PPI) use. Some investigators have reported an association between long-term PPI use and an increase in the risk of developing fundic gland polyps (FGPs). These FGPs are considered to be reversible on stopping PPI treatment. The current patient had used a PPI for 10 years, resulting in multiple FGPs in his gastric body. However, 6 months after cessation of the PPI, the FGPs had obvously regressed, even though a histamine-2 receptor antagonist had subsequently been prescribed. This case demonstrates a link between PPI treatment and FGPs.

António Araújo Ferreira, Alexandra Esteves, Yolanda Mahia, Aristóteles Rosmaninho, Augusta Silva

Scabies is an infestation of the skin by the mite Sarcoptes scabiei. A more severe form called crusted or Norwegian scabies may occur in immunosuppressed patients and the elderly. Crusted scabies mostly differs from normal scabies by the exuberance of its lesions, body distribution and high contagiousness, and requires different and more prolonged treatment. Early recognition of the lesions and isolation precautions are crucial for disease control and prevention of transmission. The authors describe a clinical case of crusted scabies with pruritus and exuberant cutaneous lesions.

Ricardo Fonseca, Filipa Monteiro, Rita Mendes

Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) is a common cause of euvolemic hyponatremia which has many possible etiologies such as tumors (mainly lung cancers). We present a case of a 79-year old women hospitalized due to microcytic anemia with transfusion need and hyponatremia due to SIADH. Three primary tumors without known metastasis were discovered. The case shows the importance of studying causes of hyponatremia.

António Miguel Araújo Ferreira, Susana Manuela Barbosa, Soraia Oliveira, José Ramada, Augusta Silva

Eosinophilic gastroenteritis is an inflammatory gastrointestinal disease characterized by eosinophilic infiltration of the digestive tract. The subserous type is the rarest form and diagnosis is challenging because the symptoms are heterogeneous and endoscopy may be non-diagnostic. The authors describe the clinical case of a 41-year-old female patient who was diagnosed with subserous eosinophilic gastroenteritis. This case highlights the importance of clinical suspicion of eosinophilic gastroenteritis in patients in the third to fifth decades of life with gastrointestinal symptoms, ascites and eosinophilia.