Associated Disorders of Chiari Type I Malformations

A Review

Marios Loukas, M.D., Ph.D.; Brian J. Shayota, B.S.; Kim Oelhafen, B.S.; Joseph H. Mill er, M.D.; Joshua J. Chern, M.D., Ph.D.; R. Shane Tubbs, M.S., P.A.-C., Ph.D.; W. Jerry Oakes, M.D.


Neurosurg Focus. 2011;31(3):e3 

In This Article

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A case of Beckwith-Wiedemann syndrome in association with CM-I has been reported. Tubbs and Oakes[68] hypothesized that the pathological mechanism responsible for the CM-I was hemihypertrophy involvement of the skull. Beckwith-Wiedemann in combination with CM-I, however, is exceedingly rare as no other case reports could be found. Costello syndrome has also been recognized as presenting with concomitant CM-I, although it, too, is described as having a low frequency association.[64] Both hemihypertrophy[56] and growth hormone deficiency[29] have been reported in patients with Costello syndrome and CM-I; therefore, there may be a common pathogenesis. Furthermore, an association of Marfan syndrome with CM-I is commonly recognized due to intracranial hypotension.[49] Additionally, associations with Williams-Beuren syndrome have been found with morphometric analyses suggesting a diminished posterior fossa leading to CM-I.[13,48] Finally, associations with disorders such as cystic fibrosis,[39] Pierre-Robin syndrome,[28] Ehlers-Danlos syndrome,[35] Fabry disease,[16] Kabuki syndrome,[10] situs inversus,[60] CHERI,[19] and cloacal exstrophy[72] have been made with no clear pathophysiological mechanism yet identified.