Spinal deformity in neurofibromatosis type-1: diagnosis and treatment

Abstract

Spinal deformity is the commonest orthopaedic manifestation in neurofibromatosis type-1 and is categorized into dystrophic and non-dystrophic types. Management should be based on a meticulous assessment of the spine with plain radiography and magnetic resonance imaging (MRI) to rule out the presence of dysplastic features that will determine prognosis and surgical planning. MRI of the whole spine should also be routinely obtained to reveal undetected intraspinal lesions that could threaten scheduled surgical interventions. Non-dystrophic curvatures can be treated with similar decision-making criteria to those applied in the management of idiopathic scoliosis. However, close observation is necessary due to the possibility of modulation with further growth and due to the increased reported risk of pseudarthrosis after spinal fusion. The relentless progressive nature of dystrophic curves necessitates aggressive operative treatment, which often has a significant toll on the quality of life of affected patients through their early childhood. Bracing of dystrophic curves has been unsuccessful. Combined anterior/posterior spinal arthrodesis including the entire structural component of the deformity is indicated in most cases, particularly in the presence of associated sagittal imbalance. This should be performed using abundant autologous bone graft and segmental posterior instrumentation to minimize the risk of non-union and recurrence of the deformity.

Clinical and genetic aspects of neurofibromatosis 1

“…Treatment requires surgery, which may be complex and difficult. 213,214 Nondystrophic scoliosis in adolescents with NF1 can usually be treated in a manner similar to idiopathic scoliosis in the general population.…”

Characteristics of soft tissues at the apex of the deformity in patients with kyphoscoliosis with underlying type 1 neurofibromatosis

“…Обсуждение В научных публикациях, посвященных НФ-1, при-водятся данные о частоте, эпидемиологии, этиопато-генезе, клинических проявлениях, диагностических критериях, вариантах течения и методах лечения при кифосколиозе [1][2][3][4][15][16][17][18]. Оценке состояния струк-тур и тканей в области предполагаемого оперативного лечения кифосколиоза уделяется недостаточное вни-мание, что приводит к нежелательным осложнениям [2,7,12,19].…”

“…В 25-50 % случаев НФ 1-го типа (НФ-1, болезнь Реклингхаузена, пери-ферический НФ) проявляется кифосколиотической деформацией позвоночника [1,3,4]. Особенности данных деформаций -ранняя манифестация и быст-рое прогрессирование [5,6].…”

Spinal Reconstruction with Pedicle Screw-Based Instrumentation and rhBMP-2 in Patients with Neurofibromatosis and Severe Dural Ectasia and Spinal Deformity

“…Spinal deformity, particularly kyphoscoliosis of the thoracic spine, is the most common abnormality (present in 10% to 60% of cases) 4,[8][9][10] . Although the precise etiology of these spinal abnormalities is not well understood and most are probably multifactorial, a variety of pathologic processes have been implicated 4,[11][12][13] . Dural ectasia may result from cerebral spinal fluid pulsations, which lead to dilatation of the weakened dural sac, with erosion of the surrounding vertebral elements as the dural sac enlarges 14 .…”

“…N eurofibromatosis is one of the most common genetic disorders, with type-I neurofibromatosis having a global prevalence of one in 3000 individuals [1][2][3][4] . Inherited in an autosomal dominant manner, type-1 neurofibromatosis may be known best for its cutaneous manifestations.…”