Negrón Diana, Colón-Castillo Lillian, Morales-Melecio Ilia, Correa-Rivas María
Department of Pathology and Laboratory Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.
Pediatr Dev Pathol. 2008 Mar-Apr;11(2):148-51. doi: 10.2350/06-03-0061.1. Epub 2007 Jun 7.
We report a case of a 12-year-old boy with history of myelofibrosis and retinopathy who developed sudden neurological deficits associated with coagulopathy, multiorgan failure, and death. A fluorescent in situ hybridization study revealed monosomy of chromosome 7 in 21% of the bone marrow cells in support of his diagnosis of myelofibrosis. Postmortem neuropathology examination revealed multiple coarse and microcalcifications and cerebral hemorrhages, explaining the patient's neurological deterioration. The findings of myelofibrosis, retinopathy, and cerebral calcifications indicate that this could be a case of a rare condition known as Revesz syndrome.
我们报告了一例12岁男孩，有骨髓纤维化和视网膜病变病史，出现了与凝血病、多器官功能衰竭及死亡相关的突发神经功能缺损。荧光原位杂交研究显示，其骨髓细胞中有21%存在7号染色体单体，支持他骨髓纤维化的诊断。尸检神经病理学检查发现多处粗大及微小钙化和脑出血，这解释了患者的神经功能恶化。骨髓纤维化、视网膜病变和脑钙化的发现表明，这可能是一例罕见的瑞韦兹综合征。
