Management of a very severe dystrophic kyphoscoliosis on a patient with type 1 neurofibromatosis - case report

Abstract

Objective: Neurofibromatosis (NF) is a group of multisystem diseases with an autosomal dominant inheritance pattern. It affects the neural crest cells, being able to compromise all tissues. NF type 1 is the most prevalent, also known as the peripheral type. This includes multiple musculoskeletal manifestations, such as severe and difficultto-manage scoliosis. Including two types: dystrophic and non-dystrophic.

Case report: 40-year-old man with a history of NF1, grave spine deformity, extreme back pain, and severe functional limitation. The initial diagnostic images of the spine showed a thoracolumbar kyphoscoliosis over 80 degrees which collapsed the thoracolumbar junction and generated spinal cord compression. He was managed with a Vertebral Column Resection (VCR) at the thoracolumbar junction level, thoracoplasty, and posterior thoracic to lumbosacral arthrodesis. The patient required hospitalization and long rehabilitation therapy. Currently, he has good clinical and diagnostic imaging results after one year of following.

Discussion: This patient’s case corresponds to dystrophic kyphoscoliosis. This group of patients requires more aggressive surgical management, considering the high risk of progression and deterioration even after surgery.