Wulffraat N M, De Schryver J, Bruin M, Pinxteren-Nagler E, van Dijken P J
Department of Hematology, University Hospital for Children and Youth het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Am J Pediatr Hematol Oncol. 1994 May;16(2):177-80.
The Imerslund-Gräsbeck syndrome (IGS) is a rare inherited disorder characterized by a megaloblastic anemia due to a selective vitamin B12 malabsorption in association with a mild proteinuria. Usually recurrent infections, gastrointestinal complaints, and pallor are presenting symptoms. We report two cases of IGS with an unusual presentation.
Two girls are described with the Imerslund-Gräsbeck syndrome who had a failure to thrive as a presenting symptom without infections or gastrointestinal complaints. The diagnosis of IGS was based on marked macrocytic anemia, very low serum vitamin B12 levels, abnormal Schilling urinary excretion test results, and mild proteinuria. When parenteral vitamin B12 was started, a rapid catch-up growth was seen in both girls.
The absence of well-known causes of failure to thrive, such as recurrent infections and gastrointestinal complaints, favors the concept that the metabolic disturbances caused by an isolated cobalamin deficiency as seen in IGS causes a failure to thrive.
Imerslund-Gräsbeck综合征（IGS）是一种罕见的遗传性疾病，其特征为由于选择性维生素B12吸收不良伴轻度蛋白尿而导致巨幼细胞贫血。通常，反复感染、胃肠道不适和面色苍白是其主要症状。我们报告两例表现不寻常的IGS病例。
描述了两名患有Imerslund-Gräsbeck综合征的女孩，她们以生长发育迟缓为主要症状，无感染或胃肠道不适。IGS的诊断基于明显的大细胞性贫血、极低的血清维生素B12水平、异常的希林氏尿排泄试验结果以及轻度蛋白尿。当开始给予肠道外维生素B12治疗后，两名女孩均出现快速追赶生长。
不存在生长发育迟缓的常见原因，如反复感染和胃肠道不适，这支持了以下观点：IGS中所见的孤立性钴胺素缺乏引起的代谢紊乱导致生长发育迟缓。
