ABSTRACT

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, which 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 frequently leading to syringomyelia. CM-1 may also be associated with NF-1. However, no case in which all of these four pathologies occur together has been reported in the literature.

Case Report:

We present a 45-year-old female with known NF-1 without any neurological signs or symptoms. 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 as well. Although the patient was not neurologically compromised, surgical treatment for CM-1 and syringomyelia was offered because of the width of the syringomyelia. However, the patient did not accept the operation.

Conclusion:

Although NF-1 may be associated with CM-1/syringomyelia or anterior thoracic meningocele, there was no case with all of these pathologies together reported in literature. This case reminded us that NF-1 cases, even in the absence of any neurological complaints, must be evaluated for a possible presence of spinal and brain pathologies.