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Psychomotor development following early treatment of severe infantile vitamin B12 deficiency and West syndrome - Is everything fine? A case report and review of literature.
MedLine Citation:
PMID:  24938481     Owner:  NLM     Status:  Publisher    
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 8years, 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.
Kirsten Glaser; Hermann J Girschick; Christian Schropp; Christian P Speer
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-6-14
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-6-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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