Glaser Kirsten, Girschick Hermann J, Schropp Christian, Speer Christian P
University Children's Hospital, University of Wuerzburg, Germany.
Children's Hospital, Vivantes Klinikum am Friedrichshain, Berlin, Germany.
Brain Dev. 2015 Mar;37(3):347-51. doi: 10.1016/j.braindev.2014.05.006. Epub 2014 Jun 14.
Severe infantile vitamin B12 deficiency is occasionally reported in developed countries due to maternal nutritional deficiency. The clinical manifestation comprises megaloblastic anemia and neurodevelopmental delay culminating in demyelination and brain atrophy. Few case reports have documented manifestation of West syndrome.
We report the 8-year long-term follow-up on a 6-month-old exclusively breast-fed girl with serious vitamin B12 deficiency secondary to undiagnosed maternal pernicious anemia. MRI revealed cerebral atrophy and delayed myelination. Strikingly, initial vitamin B12-mediated improvement of neurological and hematological findings was followed by temporary manifestation of infantile spasms requiring anticonvulsive therapy.
Seizures soon dissolved, EEG and MRI scan normalized and developmental catch-up occurred. At the age of 8 years, the girl is symptom-free and visits primary school illustrating remarkable recovery of severe neurodevelopmental delay and symptomatic West syndrome.
Infantile vitamin B12 deficiency has to be considered in the differential diagnosis of mental retardation and infantile spasms, especially if maternal nutritional deficiency might be suspected. Early treatment seems to be crucial for the prevention of irreversible brain damage.
在发达国家，由于母亲营养缺乏，偶尔会报告严重的婴儿维生素B12缺乏症。临床表现包括巨幼细胞贫血和神经发育迟缓，最终导致脱髓鞘和脑萎缩。很少有病例报告记录韦斯特综合征的表现。
我们报告了一名6个月大纯母乳喂养女孩的8年长期随访情况，该女孩因未被诊断出的母亲恶性贫血继发严重维生素B12缺乏。MRI显示脑萎缩和髓鞘形成延迟。引人注目的是，最初维生素B12介导的神经和血液学检查结果改善之后，出现了需要抗惊厥治疗的婴儿痉挛症的临时表现。
癫痫发作很快消失，脑电图和MRI扫描恢复正常，发育追赶出现。在8岁时，该女孩无症状，正在上小学，显示出严重神经发育迟缓及症状性韦斯特综合征的显著恢复。
在智力发育迟缓及婴儿痉挛症的鉴别诊断中，必须考虑婴儿维生素B12缺乏症，尤其是在怀疑母亲存在营养缺乏的情况下。早期治疗对于预防不可逆脑损伤似乎至关重要。
