Co-occurrence of Chiari Type 1 Malformation, Syringomyelia, Anterior Thoracic Meningocele And Neurofibromatosis Type 1: A Very Rare Case Report

Background: Neurofibromatosis type 1 (NF-1) is an autosomal dominant hereditary disease associated with neurological and skeletal dysplasias. It is known that anterior thoracic meningocele that is a rare pathology may be associated with NF-1. Chiari type 1 malformation (CM-1) is a developmental disorder possibly caused by mesodermal deficiency and it frequently causes syringomyelia. CM-1 may be also associated with NF-1. However any case with all of these four pathologies together is not reported in literature. Case report: A 45 year old lady with known NF-1 without any neurological signs or symptoms was presented. In her thoracic imaging performed for multinodular goiter investigation, an anterior thoracic meningocele was seen. Her spinal and brain magnetic resonance imaging (MRI) investigations revealed presence of CM-1 and syringomyelia also. Despite there was not any neurological compromise of the patient, surgical treatment for CM-1 and syringomyelia was offered because of wideness of the syringomyelia. However, the patient did not accept operation. Conclusion: Although, NF-1 may be associated with CM-1/syringomyelia or anterior thoracic meningocele, there was not any reported case with all of these pathologies together in literature. This case reminded us that the NF-1 cases even the ones without any neurological complaints must be evaluated for presence of spinal and brain pathologies.