Publication:

Neurofibromatosis type 1 manifesting with adolescent idiopathic scoliosis: a case report and literature review

Type 1 neurofibromatosis (NF 1) may present with a constellation of symptoms but literature has recorded that the commonest manifestations are orthopedic symptoms with spinal presentations taking the lead. Of the spinal manifestations, scoliosis is frequently found compared to others which could include spondylolisthesis or defective pedicles and dural ectasia on radiographs. We reported is a 15-year-old girl with NF 1 coexisting with severe thoracolumbar scoliosis. She complains of dull aching pain in her upper back and hips with progressively worsening bending of the back and slight difficulty with breathing. On examination, multiple Café au lait spots on the trunk and legs. No neurological deficits noted. There was no family history of neurofibromatosis. There was severe thoracolumbar scoliosis on X-ray of the low back. The patient then had long segment fusion and stabilization. Bone graft was used to achieve solid arthrodesis. Scoliosis is the commonest manifestation of NF 1 with different severities and degrees of Cobb's angle adolescent females are mostly affected and management is dependent of degree of curvature, comorbidities like NF 1 and type of scoliosis.