The authors report the case of a patient with Chiari malformation Type I (CM-I) and syringomyelia probably caused by a retrocerebellar arachnoid cyst. The patient's phenotype corresponded to trichorhinophalangeal syndrome Type I. The authors attributed the origin of both the retrocerebellar cyst and the abnormal posterior fossa to endochondral ossification anomalies that occur in this syndrome. The patient's spinal pain was most likely a result of the combination of CM-I and syringomyelia. To the best of the authors' knowledge, this is the first report on the association of CM-I and syringomyelia with a retrocerebellar arachnoid cyst occurring in a patient with trichorhinophalangeal syndrome Type I. The authors discuss the pathogenetic mechanisms involved in the production of tonsillar descent and syringomyelia in this patient, and review the current literature on related conditions that can result in this association.
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I
