Marta Molina-Haro

Neuromyelitis optica spectrum disorder associated with Kabuki syndrome: First reported case and immunopathogenic considerations

Kabuki syndrome, caused by KMT2D or KDM6A mutations, is a multisystem disorder with immune dysregulation. Its association with aquaporin-4 (AQP4) antibody–positive neuromyelitis optica spectrum disorder has not been reported. A 17-year-old male with autoimmune hypothyroidism pres...