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1.
Case Rep Hematol ; 2014: 716071, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24891962

RESUMEN

Introduction. Primary lymphoma of the gallbladder is an extremely rare entity with approximately 50 cases reported so far. In many of these cases the presenting symptoms were mimicking symptomatic gallstone disease and the diagnosis was made postoperatively, especially when the preoperative imaging results were far from suspicious for malignant disease. Patients and Methods. We report a case of primary lymphoma of the gallbladder in an 85-year-old man with gallstone disease, who was admitted for elective cholecystectomy 2 months after an episode of acute cholecystitis and pancreatitis. Histological evaluation of the specimen revealed a small lymphocytic lymphoma of the gallbladder. This type of primary gallbladder lymphoma has not been previously reported. Discussion. The most common primary lymphomas of the gallbladder are MALT lymphomas and diffuse large B-cell lymphomas, although a variety of other histological types have been reported. The association of these lesions with chronic inflammation is the most convincing theory for their pathogenesis. For lesions confined to the gallbladder, cholecystectomy is considered to be sufficient, while supplementary chemotherapy significantly improves prognosis in more advanced disease.

2.
Pediatr Neurol ; 50(6): 622-4, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24685009

RESUMEN

INTRODUCTION: X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression. PATIENT DESCRIPTION: We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders. At age 2 years, he was diagnosed with thalassaemia intermedia, and he was receiving occasional blood transfusions and maintaining an adequate hemoglobin level without signs of extramedullar hematopoiesis or hemosiderosis. During adolescence, he was diagnosed with growth hormone deficiency, primary hypothyroidism, and primary adrenal insufficiency. In his early 20s he demonstrated progressive tetraparesis, and the diagnosis of X-AMN was confirmed by DNA analysis of the ABCD1 gene. CONCLUSION: This patient expands the phenotype X-AMN by adding growth hormone deficiency and hypothyroidism.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Adrenoleucodistrofia/genética , Enfermedades del Sistema Endocrino/genética , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP , Adrenoleucodistrofia/fisiopatología , Enfermedades del Sistema Endocrino/fisiopatología , Hormona del Crecimiento/deficiencia , Humanos , Hipotiroidismo/genética , Hipotiroidismo/fisiopatología , Masculino , Fenotipo , Adulto Joven
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