Madhavan S, Vijayakumar M, Rajajee Sarala, Nammalwar B R
Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hopsital, Chennai, India.
Indian Pediatr. 2009 Mar;46(3):251-3.
A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis, megaloblastic erythropoiesis, megakaryocytes with low serum B12 level. His younger sibling was similarly affected. This combination suggested Imerslund-Grasbeck syndrome. The hemoglobin levels improved with injection of vitamin B12 but proteinuria persisted. During follow-up, he developed ketoacidosis due to insulin dependent diabetes mellitus. This rare combination has not been reported in the Indian literature.
一名14岁男性青少年,出生于二级近亲婚姻家庭,表现为无症状蛋白尿和严重贫血。他有白细胞减少、红细胞大小不均和异形红细胞症、巨幼红细胞生成、巨核细胞以及血清维生素B12水平低。他的弟弟也有类似症状。这种情况提示为伊默斯伦德-格布综合征。注射维生素B12后血红蛋白水平有所改善,但蛋白尿持续存在。随访期间,他因胰岛素依赖型糖尿病发展为酮症酸中毒。这种罕见的组合在印度文献中尚未见报道。