[P2-44] A case of oculoectodermal syndrome with acute transverse myelopathy caused by spinal dural arteriovenous fistula
Oculoectodermal syndrome (OES) is a rare disease characterized by a combination of aplasia cutis congenita, epibulbar dermoids, and cutaneous hyperpigmentation, with additional manifestations including non-ossifying fibromas and giant cell granulomas of the jaw occurring during the first decade of life. According to recently study, whole-genome sequencing has led to the identification of somatic KRAS mutation in affected tissue from two individuals with OES. Here we reported 14-year-old girl with left eyelid ptosis, left strabismus, left epibulbar dermoid, left partial calvities, and clinically diagnosed as OES at the age of 4. She had numbness in her leg since 2 years before. One day she suddenly had paraplegia and bladder rectal dysfunction, and transferred to our hospital. Spinal enhanced MRI showed swelling lesion from Th2 to Th6 with low intensity area inside with T2-weighted image. 3D-CT angiography showed arteriovenous fistula in left side of the spinal cord, indicating hemorrhagic infarction caused by spinal dural arteriovenous fistula. We performed embolization and she gradually recovered to be able to move with wheelchair. We performed Sanger sequencing of the KRAS gene in DNA from several tissues, and identified somatic missense mutation in KRAS with comparison of DNA from affected tissue to blood-derived DNA. This is a first report of OES with spinal dural arteriovenous fistula in which appeared with acute transverse myelopathy. Since KRAS is also known as oncogene, farther research into disease progression with regard to malignancy risk and investigation of RAS-target therapies in OES is warranted.