title: Association of Chiari malformation and vitamin B12 deficit in a family.
abstract: OBJECTIVE
  A clear etiology of Chiari malformation is still lacking. Some associations between this disorder and genetical variations have been reported. Documented cases of familial Chiari malformation in three consecutive generations are rare. Furthermore, an association of Chiari disorder and vitamin B12 deficit has rarely been described in literature.
  
  
  METHODS
  In this study, three generations of a family suffering from Chiari 1 or Chiari 0 malformation have been examined with MRI, clinically and laboratory (hemograms).
  
  
  RESULTS
  Chiari malformation could be confirmed in all presented patients: While the F2 generation (children: 1 × ♀, 1 × ♂) and the female F1 generation (mother and sister of mother) suffered from Chiari type 1, the male F0 generation showed Chiari 0 malformation. F0 and F1 generation further presented with syringomyelia (F0: C4-D1; F1: C4-D2). All patients except the grandfather (F0) underwent surgical posterior fossa decompression to relive successfully cerebellar and hydrocephalus associated progressing clinical symptoms. The hemograms of generation 1 and 2 revealed familial vitamin B12 deficit.
  
  
  CONCLUSIONS
  A hereditary component is discussed in Chiari malformation, yet proved etiology is still lacking. As folic acid plays an important role in the development of the neural tube, vitamin B12 deficit might have some impact on the development of Chiari malformations.
authors.affiliation: Department of Neurosurgery, Mannheim University Hospital, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. dr.melanie.schmitt@web.de.
authors.forename: Melanie
authors.initials: M
authors.lastname: Welsch
authors.affiliation: Department of Neurosurgery, Medical School, Saarland University, Kirrberger Straße, Building 90.5, 66421, Homburg-Saar, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Antes
authors.affiliation: Department of Neurosurgery, Medical School, Saarland University, Kirrberger Straße, Building 90.5, 66421, Homburg-Saar, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Kiefer
authors.affiliation: Department of Pediatrics and Neonatology; Section Neuropediatrics, Saarland University, Homburg, Germany.
authors.forename: Sascha
authors.initials: S
authors.lastname: Meyer
authors.affiliation: Department of Neurosurgery, Medical School, Saarland University, Kirrberger Straße, Building 90.5, 66421, Homburg-Saar, Germany.
authors.forename: Regina
authors.initials: R
authors.lastname: Eymann
mesh_terms: D000293:Adolescent; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000235:genetics* / Q000601:surgery; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D013595:Syringomyelia / Q000235:genetics / Q000601:surgery; D014806:Vitamin B 12 Deficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics*
keywords: Chiari malformation; Familial Chiari; Genetic disorders; Vitamin B12 deficiency