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Pott's disease is a vertebral infection caused by Mycobacterium tuberculosis. Indolent nature and subacute course are associated with late diagnosis. A clinical case is presented whose diagnosis was delayed by atypical presentation with progressive worsening of symptoms. Magnetic resonance imaging (MRI) of the dorsolumbar spine revealed T7-T8 angulation suggestive of secondary injury, with intracanalar extension and spinal cord compression. Gastric aspirate cultures, direct microscopy, and polymerase chain reaction (PCR) were A 79-yearold female came to the emergency department with right back pain, pleuritic, with 12 h of evolution. Anorexia and weight loss,1 month evolution. Computed tomography (CT) of the dorsal spine revealed T7-T8 lytic lesions, suggestive of secondary nature. Objectively:weight loss and pain during thoracic palpation. Annalistically: normocytic/normochromic anemia, hypercalcemia, hepatic cholestasis, C-reactive protein (CRP) 7.12 mg/dL. Chest X-ray and electrocardiogram without alterations. She was admitted in Internal Medicine service. Analytically: hypophosphatemia, parathyroid hormone elevated, CRP 6 mg/dL, Beta-2 microglobulin elevated, dyslipidemia, iron and folicacid deficiency.negative for M. tuberculosis. T8 aspiration CT guided: cultures/direct microscopy negative, PCR positive for M. tuberculosis. Introductionof antitubercular drugs. Worsening of symptomatology, with paraparesia. MRI of the dorsal spine revealed spondylodiscitis and spinal cordcompression in T7-T8. Diagnosis revealed vertebral tuberculosis with spinal cord compression. She was transferred to neurosurgery servicefor surgical treatment. There was clinical and analytical improvement. Draws attention to difficulty in diagnose a treatable disease in a patientwith a rare presentation.
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Mycobacterium tuberculosis , Compresión de la Médula Espinal , Tuberculosis de la Columna Vertebral , Anciano , Antituberculosos/uso terapéutico , Femenino , Humanos , Mycobacterium tuberculosis/genética , Compresión de la Médula Espinal/tratamiento farmacológico , Compresión de la Médula Espinal/etiología , Tuberculosis de la Columna Vertebral/diagnóstico por imagen , Tuberculosis de la Columna Vertebral/tratamiento farmacológico , Pérdida de PesoRESUMEN
Familial amyloidotic polyneuropathy type 1 (FAP 1) is a systemic autosomal dominant amyloidosis, associated with transthyretin mutation. It is characterised by motor, autonomic and sensory neuropathy with relentless progression that results from amyloid deposition in different tissues. The authors describe the case of a patient with family history of a nephew, who underwent liver transplantation for unknown pathology, as well as the deaths of both his mother and a brother due to stroke. He reported complaints of dizziness, asthenia and sensory changes in the lower limbs and a history of arterial hypertension, dyslipidemia and chronic kidney disease. Physical examination revealed macroglossia and pain hyposensitivity in the anterior feet. In subsequent evaluation, the presence of proteinuria, changes in cardiac electrical conduction, sensory and motor neuropathy with sympathetic and parasympathetic dysfunction in electrophysiological study raised the suspicion of a systemic disease. The patient underwent kidney biopsy, which was positive for amyloid. FAP 1 diagnosis was later confirmed by genetic testing. Family history review confirmed that patient's liver transplanted nephew and other two nieces had FAP 1, which he was initially unaware of. Key Words: Familial amyloidotic polyneuropathy, Systemic amyloidosis, Transthyretin.
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Neuropatías Amiloides Familiares/diagnóstico , Polineuropatías , Sistema Nervioso Autónomo , Pruebas Genéticas , Humanos , Masculino , Polineuropatías/diagnóstico , Prealbúmina/genéticaRESUMEN
Syphilis is a sexual transmitted disease caused by Treponema pallidum and an underdiagnosed and underreported cause of acute hepatitis. In recent years, reported cases of primary and secondary syphilis have been increasing, mostly in men who have sex with men. Clinical manifestations of syphilis are diverse, earning the name of "the great imitator" which can affect virtually any organ. Nonetheless, hepatic involvement is rare, but it can occur at any stage of the disease. We present the case of a 41-year-old immunocompetent male, that presents to us with a cholestatic hepatitis and a diffuse erythematous rash with palmo-plantar affection. The patient had no history of primary syphilis. After throughout aetiologic study, he was diagnosed with syphilitic hepatitis and treated with intramuscular Benzathine benzylpenicillin, with the disappearance of the rash and normalization of liver enzymes after 3 months. We would like to highlight that this aetiology should be considered in patients with unexplained elevation of liver enzymes (mainly cholestatic enzymes) and an epidemiologic context of unsafe sexual exposure.
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Physicians must acknowledge the potential risk of RSH with enoxaparin. Switching home anticoagulation by enoxaparin upon hospital admission is common, but it may put patients at higher risk for RSH. Management guidelines are needed in this setting.
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Tuberculosis (TB) is an infection that can affect any organ, affecting mainly the lungs. Isolated testicular TB is very rare. Six months of a multiple drug scheme is the mainstay of TB treatment. Adverse reaction to anti-TB chemotherapy is frequent and affects the course of the therapy, leading sometimes to discontinuation of drugs. Ethambutol optic nerve toxicity is frequent. However, severe cutaneous and anaphylactic reactions associated to ethambutol are very rare. We present the case of an immunocompetent patient presenting with isolated testicular TB that exhibited a severe cutaneous and anaphylactic reaction to ethambutol during the consolidation treatment phase. This led to exhaustive etiologic study and treatment modification.
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Antituberculosos/toxicidad , Etambutol/toxicidad , Piel/efectos de los fármacos , Enfermedades Testiculares/microbiología , Tuberculosis/complicaciones , Tuberculosis/diagnóstico , Antituberculosos/uso terapéutico , Humanos , Masculino , Persona de Mediana Edad , Piel/patología , Enfermedades Testiculares/tratamiento farmacológico , Testículo/diagnóstico por imagen , Testículo/patología , Tuberculosis/tratamiento farmacológico , UltrasonografíaRESUMEN
INTRODUCTION: Isolated right pulmonary artery agenesis in an adult patient is an extremely rare condition that requires a high level of suspicion to make the diagnosis. CASE DESCRIPTION: A 32-year-old woman presented to the emergency room with a 4-month history of recurrent respiratory infections. Chest radiography and computerized tomography (CT) revealed alveolar opacities on the medium and inferior right lobes. Fibreoptic bronchoscopy with bronchial aspirate was negative on both cytological and microbiological analysis. Due to the persistent of the imaging findings after a full course of a wide-spectrum antibiotic, an angio-CT was performed, revealing a complete stop at the level of the right pulmonary artery. Angiography confirmed the diagnosis of right pulmonary artery agenesis. DISCUSSION: Currently, the patient has no exertional dyspnoea, screening for pulmonary hypertension has so far been negative and no further respiratory infections have occurred. It is important to call attention to a major congenital malformation that may remain asymptomatic until adulthood. LEARNING POINTS: Unilateral pulmonary agenesis is a rare entity that can present in multiple forms.A high level of suspicion and a thorough investigation is required for the diagnosis, with angiography remaining important even though chest angio-CT findings can suggest the diagnosis.A major complication of this condition is pulmonary hypertension, which can appear early in infancy or with conditions that modify the pulmonary circulation such as pregnancy, although previous pregnancies did not trigger pulmonary hypertension in our patient.
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Male, of 69 years old, caucasian, farmer, non smoker, with hypertension, dyslipidemia and past pesticide exposition, without known familiar diseases. In October/2005, he initiated dyspnoea and asthenia for moderate efforts, cough and night sibling, with persisted although several antibiotic treatments were done. In December/2005, he went to the Emergency department, where it was seen a right pleural effusion. The pleural liquid study, the bronchofiberscope examination, the biopsy and the studies for cancer staging allowed the diagnosis: Lung Adenocarcinoma stage IIIB (positive pleural effusion) - December 2005. He was submitted to thoracocentesis, pleurodesis and local radiotherapy. He carried through citostatic treatment with Gemcitabine-Carboplatin from 16/02/2006 to 13/07/2006, with some haematological toxicity. The follow up showed progression disease, initiating second line of treatment with Erlotinib 150mg, at 21/08/2006. He maintains the same treatment with disease stability and a general good condition, only showing a grade II rash (face, forearms and hands) as secondary effect of treatment. Rev Port Pneumol 2008; XIV (Supl 3): S83-S86.
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Male, of 58 years, caucasian, construction worker, non smoker, with depressive syndrome, biliary lithiasis, renal cysts, surgery for benign intestinal polyps and relevant familiar history - aunt with lung cancer and mother with colon cancer. He initiated thorax pain and vomitting and made a chest x-ray, showing a right basal lung mass. During the etiologic study, he was submitted to thoracotomy with biopsy, in April 2006 - "fine granulations, spread for all the pulmonary field", allowing the diagnosis - adenosquamous lung carcinoma, stage IV (16/05/2006). He initiated citostatic treatment with vinorelbine-carboplatin in 02/06/2006, with haematological toxicity and later with neurological toxicity. At that time, he passed to second line treatment with erlotinib, that it was initiated in 11/06/2007, without significant secondary effects. Patient developed trigemic nerve pain, in October/2007, which subsequent study disclosed right esfenopetroclival meningioma, treated with radiosurgery. Later he presented cerebral metastization and erlotinib was discontinued in 09/06/2008. He was submitted to neuroradiosurgery. Now is under symptom support care. Rev Port Pneumol 2008; XIV (Supl 3): S79-S82.