Arunath Visvalingam, Hoole Thabitha Jebaseeli, Rathnasri Asanka, Muthukumarana Oshanie, Kumarasiri Ishara Minuri, Liyanage Nishadi Dananjani, Costa Yasintha, Mettananda Sachith
Colombo North Teaching Hospital, Ragama, Sri Lanka.
Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.
BMC Pediatr. 2021 Jan 18;21(1):41. doi: 10.1186/s12887-021-02499-1.
Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B deficiency and proteinuria.
A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B and red blood cell folate levels were low. MRI revealed sub-acute combined degeneration of the spinal cord with characteristic 'inverted V sign'. Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Gräsbeck syndrome was made due to the presence of non-nutritional vitamin B deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin.
This case report presents a rare occurrence of severe vitamin B deficiency due to Imerslund-Gräsbeck syndrome masked by co-existent α-thalassaemia, resulting in serious consequences. It highlights the need for a high index of suspicion in evaluating children with severe anaemia, especially in the presence of mixed pathologies.
伊默斯伦德 - 格里斯贝克综合征是一种罕见的遗传性疾病，其特征为维生素B缺乏和蛋白尿。
一名4岁的斯里兰卡男孩出现行走困难逐渐加重，持续两周。他之前因存在低色素小细胞贫血、血片中的血红蛋白H包涵体以及具有基因缺失的复合杂合α地中海贫血基因型，被诊断为非输血依赖型α地中海贫血并接受相应治疗。然而，在过去三个月里他的输血需求增加，且在入院前两周逐渐失去运动发育里程碑。神经系统检查显示全身肌张力减退、膝反射亢进和伸性跖反射。他的全血细胞计数显示全血细胞减少，骨髓活检显示巨幼细胞改变。血清维生素B和红细胞叶酸水平较低。MRI显示脊髓亚急性联合变性，具有特征性的“倒V征”。尿液分析显示非肾病范围蛋白尿。由于存在非营养性维生素B缺乏和无症状蛋白尿，诊断为伊默斯伦德 - 格里斯贝克综合征。他对肌肉注射羟钴胺素表现出快速的血液学和神经学改善。
本病例报告展示了因伊默斯伦德 - 格里斯贝克综合征导致的严重维生素B缺乏罕见地被共存的α地中海贫血所掩盖，从而产生严重后果。它强调了在评估重度贫血儿童时，尤其是存在混合病理情况时，需要高度怀疑。
