gms | German Medical Science

62nd Annual Meeting of the German Society of Neurosurgery (DGNC)
Joint Meeting with the Polish Society of Neurosurgeons (PNCH)

German Society of Neurosurgery (DGNC)

7 - 11 May 2011, Hamburg

Case report about the occurrence of Arnold Chiari syndrome over 3 generations of a family: MRI and hematological findings

Meeting Abstract

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  • M. Schmitt - Universitätskliniken des Saarlandes, Klinik für Neurochirurgie, Homburg/Saar, Deutschland
  • M. Kiefer - Universitätskliniken des Saarlandes, Klinik für Neurochirurgie, Homburg/Saar, Deutschland
  • S. Antes - Universitätskliniken des Saarlandes, Klinik für Neurochirurgie, Homburg/Saar, Deutschland
  • R. Eymann - Universitätskliniken des Saarlandes, Klinik für Neurochirurgie, Homburg/Saar, Deutschland

Deutsche Gesellschaft für Neurochirurgie. Polnische Gesellschaft für Neurochirurgen. 62. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Polnischen Gesellschaft für Neurochirurgen (PNCH). Hamburg, 07.-11.05.2011. Düsseldorf: German Medical Science GMS Publishing House; 2011. DocP 062

DOI: 10.3205/11dgnc283, URN: urn:nbn:de:0183-11dgnc2835

Published: April 28, 2011

© 2011 Schmitt et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

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Objective: Some associations between the Chiari malformation and genetical variations (e.g. Pfeiffer's syndrome) have been documented. Documented cases of familiar Chiari malformation in three consecutive generations are rare to date. Furthermore, a coincidence of a Chiari malformation and vitamin B12 deficit has not yet been described in the literature.

Methods: Three generations of a family suffering from Chiari I/Chiari 0 malformation have been studied with magnetic resonance tomography (MRT), clinically and in laboratory studies (hematology).

Results: The Chiari malformation could be confirmed in all presented patients: while the F2 generation (children: 1 x ♀, 1 x ♂) and the female F1 generation (mother and sister of mother) suffered from Chiari I malformation, the male F0 generation showed the Chiari 0 malformation. The F1 generation further presented with syringomyelia (C4-Th1). All patients except the grandfather (F0) underwent surgical posterior fossa decompression to relieve successfully cerebellar and hydrocephalus associated progressive clinical symptoms. All three generation hematology studies revealed a familial vitamin B12 deficit.

Conclusions: A hereditary component has been discussed in association with the Chiari malformation; however, a proven etiology is still lacking. As folic acid plays an important role in the development of the neural tube, a vitamin B12 deficit might have some impact on the development of Chiari malformations. Such findings on a vitamin B12 deficit and an associated Chiari malformation has not yet been described in the literature, but might be a new starting point for the understanding of the fundamental Chiari pathophysiology.