gms | German Medical Science

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.