A rare case of spine disappearing bone disease: Lesson learned and review of the literature

Abstract

Abstract Disappearing bone disease, also known as Gorham's disease, is a rare idiopathic musculoskeletal disorder characterized by clinical and radiological disappearance of bone caused by a proliferation of non-neoplastic vascular tissue. The disease was first reported by Jackson in 1838 in a boneless arm. Primary involvement of the spine is rare and has been described in about 20 cases only. Gorham's disease is progressive in most patients and high morbidity and mortality is seen in patients with spinal involvement. We present on a case of a thirty-two-year-old man admitted to our department for acute onset of paraplegia and sensitive anesthesia below T1 level; a CT scan showed a C6–C7 fracture of the body, involving the posterior elements and characterized by high instability with 20° of kyphosis. The patient underwent a C2-T7 posterior fixation. At the 3-month follow-up, the patient recovered partial motility on the lower limbs and the implant appeared stable. In general, no single treatment modality has proven effective in arresting the disease. Only eight cases have been treated by surgical fixation. In fact, the literature review we performed showed paucity concerning the correct treatment, in particular, the timing of surgery. In light of this and given the very poor prognosis once neurological deficits appear, we support the surgical treatment soon after the spinal deformity and/or impending fracture is diagnosed.