O infarto da artéria de Percheron é uma apresentação rara de acidente vascular cerebral, caracterizado principalmente por
isquemia talâmica bilateral. A apresentação clinica desse infarto se apresenta de maneira inesperada e variável. Relata-se um caso de um paciente masculino, idoso, acometido p...
INTRODUCCIÓN: El síndrome IPEX (inmunodesregulación, poliendocrinopatía y enteropatía autoinmune ligada a X) causado por mutaciones en el gen FOXP3, se caracteriza por diarrea prolongada, alteraciones endocrinológicas y dermatitis. El tratamiento consiste en la administración de medicamentos inmu...
Diabetes Mellitus Tipo 1/congénito,
Diarrea/diagnóstico,
Factores de Transcripción Forkhead/genética,
Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico,
Enfermedades del Sistema Inmune/congénito,
Enfermedad Crónica,
Diabetes Mellitus Tipo 1/diagnóstico,
Diabetes Mellitus Tipo 1/genética,
Diarrea/genética,
Resultado Fatal,
Enfermedades Genéticas Ligadas al Cromosoma X/genética,
Marcadores Genéticos,
Enfermedades del Sistema Inmune/diagnóstico,
Enfermedades del Sistema Inmune/genética,
Mutación,
Linaje
La linfangiomatosis es una patología benigna, de etiología desconocida, que afecta especialmente a población pediátrica, caracterizándose por desarrollo de masas subcutáneas que involucran uno o más órganos. Cuando se asocia con coagulopatía y derrames quilosos, recibe el nombre de linfangiomato...
Histiocytic sarcoma (HS) is a rare hematolymphoid malignant neoplasm with an aggressive clinical course. It can arise de novo or from low-grade B-cell lymphoma. We describe the case of a 16-year-old boy referred to our hospital with generalized lymphadenopathy, weight loss, and decreased appetite for one...
Diaphragmatic eventration (DE) associated with intestinal malrotation and renal agenesis is a rare entity. The authors report a case of a 69-year-old man who had symptoms of heart failure. He had a previous imaging diagnosis of right diaphragmatic eventration and dilated cardiomyopathy. He died on the se...
Emphysematous gastritis (EG) is a rare and potentially lethal process caused by invasive, gas-producing bacteria leading to inflammation and gas dissection of the stomach. The most common etiologic agents are Clostridium infections, but other organisms, including enterobacteria, staphylococcus, and fungi...
Insuficiencia Renal/complicaciones,
Complicaciones de la Diabetes,
Gastroparesia/complicaciones,
Infecciones/etiología,
Infecciones Oportunistas/etiología,
Infecciones por Clostridium,
Receptores de Trasplantes,
Rechazo de Injerto,
Fallo Hepático,
Colestasis,
Resultado Fatal,
Autopsia
Peripheral neuropathy is common, but rarely due to vasculitis. This report is the case of a 74-year-old woman with systemic vasculitis who presented with progressive arm and leg weakness associated with numbness. Autopsy revealed a colon cancer, which may have triggered the vasculitis. This case illustra...
Hepatoid adenocarcinoma of the lung is a rare subtype of lung cancer. We report a case of a metastatic hepatoid adenocarcinoma of the lung with aggressive behavior, including biopsy and autopsy findings. The pulmonary tumors showed features indistinguishable from hepatocellular carcinoma and were diffuse...
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree ...
El síndrome de Pierson se caracteriza por la presencia
de síndrome nefrótico congénito y microcoria bilateral.
Genéticamente, este trastorno está ocasionado por mutaciones
en el gen LAMB2, que codifica la cadenaβ2 de la laminina. Hasta
la fecha, en la bibliografía se informaron 98casos y 50mutaci...
