Abstract
BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune central nervous system disorder mainly associated with aquaporin-4 antibodies. While it primarily affects the optic nerves and spinal cord, brainstem involvement may occur. CASE PRESENTATION: A twenty-eight years old woman with medical background of anorexia nervosa and cutaneous neurofibromatosis, was referred to our center for progressive gait disorders with a tetrapyramidal syndrome. MRI revealed isolated T2-hyperintense lesions of the medullo-spinal junction, characterized by brighter spotty T2-hyperintense areas within it, known as bright spotty lesion, and showing heterogenous enhancement. Further investigations led to the diagnosis of AQP4 + Neuromyelitis Optical Spectrum Disorder. The clinical and radiological evolution were favorable after immunotherapy. CONCLUSIONS: Our case illustrates the variety of the NMO spectrum and alerts clinicians to evoke this diagnosis in front of insidious symptoms and rare radiological presentation.