Hemophagocytic Lymphohistiocytosis: A Case Report.

The hemophagocytic syndrome (HS) or hemophagocytic lymphohistiocytosis (HLH) is a syndrome with apoptosis deficiency that results in the impairment of a regulatory pathway with consequent immune and inflammatory responses. Fever, cytopenias, splenomegaly, and hemophagocytosis are cardinal signs. It may be familial or secondary to infection, autoimmunity, or neoplasia. Impaired natural killer (NK)-cell cytotoxicity is the hallmark of HLH. All genetic defects in familial HLH are related to granule-dependent cytotoxicity. The authors present a 50-year-old black female patient with a history of drepanocytosis who attended the emergency department due to fever, asthenia, lethargy, and hypogastric pain. Her laboratory workup on admission revealed severe pancytopenia. She was ultimately diagnosed with HLH due to sepsis of urinary origin, with a fatal outcome. HLH is a rare and life-threatening syndrome. The delay in its diagnosis due to the variability of the clinical and laboratory findings constitutes the main obstacle to a successful prognosis, as illustrated in this case report.

Conn's Syndrome: An Unusual Cause of Periodic Paralysis.

Primary hyperaldosteronism, also known as Conn's syndrome, is characterized by an independent and excessive aldosterone production in the adrenal cortex, causing hypernatremia, arterial hypertension, and, in some cases, potentially severe hypokalemia can occur. We report a case of a 45-year-old Caucasian woman, with a history of obesity and hypertension, who presented to the emergency room with a four-week evolution history of myalgia and ascending muscle weakness eventually resulting in tetraparesis. The initial blood analysis showed severe hypokalemia (1.5 mmol/L). Further laboratory studies revealed an elevated plasma aldosterone level with low renin activity, and thyroid function tests were consistent with mild primary hyperthyroidism. CT scan showed a nodular lesion in the left adrenal gland. A saline suppression test confirmed that aldosterone secretion and renin activity were not suppressed. Regression of tetraparesis was noted with vigorous potassium supplementation. A laparoscopic left adrenalectomy was performed, with consequent normalization of hypokalemia, without the need for supplementation. Periodic paralysis (PP) are a rare group of neuromuscular diseases that occur due to the affection of the ion channels of the skeletal muscle. Most cases are hereditary; nonetheless, secondary causes of PP have been reported in the literature.  This case illustrates an unusual and severe presentation of primary hyperaldosteronism manifested by PP. The concomitant changes in thyroid function raised the possibility that we are facing the clinical influence of another rare entity: thyrotoxic hypokalemic PP. However, the resolution of hypokalemia after the removal of adrenal adenoma supported the major contribution of hyperaldosteronism.

Going Round in Circles with a Multisystemic Disease: A Unique Case of Parasitic Aortitis.

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. LEARNING POINTS: Parasitic infestations can cause aortitis: negative stool screening does not rule out roundworm infestation and granulomatous inflammatory response with eosinophilia is a histological hallmark.Infestation by Ascaris lumbricoides can have multisystemic expression and mimic rheumatological disorders such as vasculitis.This is the first report of a parasitic-related aortitis in humans.

Actinobacillus endocarditis associated with hypertrophic cardiomyopathy.

Infective endocarditis can be associated with complex clinical presentations, sometimes with a difficult multi-disciplinary management. Actinobacillus actinomycetemcomitans belongs to the Haemophilus species, Actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens and Kingella species group, responsible for 5% to 10% of infective endocarditis in native heart valves. These organisms have slow fastidious growth pattern, often associated with negative cultures, and cause systemic embolism with abscess formation. The authors present the case of a 59-year-old man, admitted due to fever of unknown origin, with a personal history of obstructive hypertrophic cardiomyopathy and recent dental manipulation. The diagnosis of mitral valve's endocarditis was established after a transoesophageal ecocardiography, with a late isolation of A actinomycetemcomitans in blood culture. Despite the institution of antibiotic therapy, the patient suffered from multiple episodes of septic embolism: skin, mucosae, cerebral abscesses, spondylodiscitis and uveitis. He was submitted to heart surgery with miectomy and replacement of the native mitral valve by a mechanical prosthesis, while on antibiotics.

Complete heart block as a complicating feature of a mediastinal lymphoma.

Malignant lymphomas represent about 9% of cardiac neoplasms. Despite its life-threatening nature, the cardiac manifestations are often subclinical. In about 20% of deaths from lymphoma, cardiac involvement is found only in autopsy. The authors present the case of a 77-year-old female admitted due to intense back pain, vomiting, generalised pruritus, fatigue and weight loss. She had a personal history of hypertension and breast cancer was noted 10 years before admission. The thoracoabdominopelvic CT showed a mass in the left atrium with extension to the right atrium and inferior vena cava, and a paravertebral mass at D10-D11 with invasion of the spinal canal and hepatic hilum. The transthoracic paravertebral mass biopsy was compatible with a diffuse large B cell lymphoma. The patient developed a complete atrioventricular block, with haemodynamic instability, requiring urgent chemoreduction of the paracardiac mass and implantation of an epicardial pacemaker.

Buerger's disease (Thromboangiitis obliterans): a diagnostic challenge.

Buerger's disease or Thromboangiitis obliterans is a segmental inflammatory disease that affects the vessels and nerves of the extremities. It usually affects men below 45 years old and correlates with tobacco, as a predisposing factor. The authors present the case of a 34-year-old male, with ulcers in the fingertips with progressive worsening: acrocyanosis, slow healing, necrosis and finally loss of substance. Dorsalis pedis and posterior tibial pulses were not palpable. Personal history of heavy smoking was (20 pack-years). The angiography revealed proximal occlusion of the left posterior tibial and interosseal arteries, with distal circulation by the anterior tibial artery. He was submitted to disarticulation of the second left toe and therapy with pentoxifyline and iloprost infusion, calcium antagonist, antiplatelet drugs, statin and low molecular weight heparin (later replaced by oral anticoagulation). Improvement was seen of active vascular lesions and pain symptoms.