title: Psychomotor development following early treatment of severe infantile vitamin B12 deficiency and West syndrome--is everything fine? A case report and review of literature.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: University Children's Hospital, University of Wuerzburg, Germany. Electronic address: Glaser_K@ukw.de.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Glaser
authors.affiliation: Children's Hospital, Vivantes Klinikum am Friedrichshain, Berlin, Germany.
authors.forename: Hermann J
authors.initials: HJ
authors.lastname: Girschick
authors.affiliation: Children's Hospital Dritter Orden, Passau, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Schropp
authors.affiliation: University Children's Hospital, University of Wuerzburg, Germany.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Speer
mesh_terms: D001284:Atrophy / Q000473:pathology; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D013036:Spasms, Infantile / Q000209:etiology*; D014806:Vitamin B 12 Deficiency / Q000150:complications* / Q000209:etiology
keywords: Brain damage; Infantile spasms syndrome; Infantile vitamin B12 deficiency; Long-term follow-up; Neurodevelopmental delay; Psychomotor development; West syndrome