RESUMO
Central core disease is a rare autosomal dominantly inherited non-progressive congenital myopathy, which is pathologically characterized by the formation of a "core". We report a 28-year-old female with non-progressive muscle weakness, who had a hypotonic posture at birth. The developmental milestones were delayed with her first walking at 18 months of age. She could not run or walk a long distance and weight-bearing tasks were almost impossible. None of her family members showed motor symptoms. An investigation of the electromyography and nerve conduction velocity showed non-specific results. A gastrocnemius muscle biopsy revealed central cores in approximately 70% of myofibers with a type 1 myofiber predominance and deranged sarcolemmal structures. To the best of our knowledge, this is the fifth report of central core disease in the Korean literature.
Assuntos
Adulto , Feminino , Humanos , Biópsia , Eletromiografia , Debilidade Muscular , Músculo Esquelético , Doenças Musculares , Miopatia da Parte Central , Condução Nervosa , Parto , Postura , Caminhada , Suporte de CargaRESUMO
Endometrial mucinous adenocarcinoma occurs in 1-9% of endometrial adenocarcinomas and adenocarcinoma with squamous differentiation in approximately 25%. We report a rare case of mucinous adenocarcinoma with squamous differentiation in a 53-year-old woman. Curetting biopsies of the endometrial lesion were taken twice after hormone replacement therapy, which lasted for four months. Because the squamous differentiation was so extensive, the initial diagnosis based on each curetting specimen was squamous papilloma. A total hysterectomy was performed and the tumor was revealed to be a mucinous adenocarcinoma with squamous differentiation. We subsequently discussed the pathogenesis and prognosis of this type of tumor.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Adenocarcinoma , Adenocarcinoma Mucinoso , Biópsia , Diagnóstico , Neoplasias do Endométrio , Terapia de Reposição Hormonal , Histerectomia , Mucinas , Papiloma , PrognósticoRESUMO
We report a unique case of malignant peripheral nerve sheath tumor (MPNST) of colon, not associated with neurofibromatosis or parasite infection. The tumor presented as an encircling mass in descending colon causing obstruction with nuberous metastatic lesions in a 43-year-old man. The tumor was largely composed of spindle cells which showed strong positivity for vimemtin, S-100 protein and Leu-7. The tumor often exhibited epithelioid feature where tumor cells were weakly positive for cytokeratin.