Journal
BRAIN & DEVELOPMENT
Volume 37, Issue 3, Pages 347-351Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2014.05.006
Keywords
Infantile vitamin B12 deficiency; Brain damage; Psychomotor development; West syndrome; Infantile spasms syndrome; Neurodevelopmental delay; Long-term follow-up
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Background: 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. Patient: 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. Results: 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. Conclusion: 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. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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