Surgical treatment of spinal deformities associated with neurofibromatosis type 1. Report of 12 cases. 2002

Vilmos Halmai, and István Domán, and Tamás de Jonge, and Tamás Illés
Department of Orthopedic Surgery, Medical and Health Sciences Center, University of Pécs, Hungary.

OBJECTIVE In 10 to 50% of cases with neurofibromatosis, skeletal disorders are present, mainly as various deformities of the spine. These deformities can be divided into dystrophic and nondystrophic groups depending on the absence or presence of bone dystrophy. The nondystrophic curves are highly similar to those in idiopathic scoliosis, whereas the dystrophic curves are manifested early and, by progressing inexorably, may lead to neurological symptoms. In this article the authors report on a series of 12 patients (11 with dystrophic and one with nondystrophic deformities) who underwent surgical treatment. METHODS In the case with a nondystrophic curve, posterolateral instrumentation-assisted fusion was performed. A curvature correction of 70% was achieved in the frontal plane, and at the 2-year follow-up examination neither bone dysplasia nor pseudarthrosis was observed. In the cases with dystrophic curves, preoperative traction for 3 weeks was applied; anterior surgical release was then performed, as was two-stage posterior instrumentation-assisted fusion. In the cases of thoracic kyphoscoliosis in which this treatment protocol was performed, the mean scoliosis correction was 66%, whereas the mean decrease in kyphotic angle was 34.5 degrees. In the cases with thoracolumbar and lumbar curves, the mean correction in the frontal plane was 69.8 degrees, whereas the mean preoperative lumbar kyphosis of 42 degrees was corrected to a mean lordotic angle of 23 degrees. Postoperatively, no hook dislocation was detected. A neurological complication was observed in one case. CONCLUSIONS The surgical treatment of dystrophic curves always included 360 degrees fusion and the use of a tibial corticocancellous graft, which must be placed on the concave side of the curve in the frontal plane, the graft thereby providing biomechanical support.

UI MeSH Term Description Entries
D007738 Kyphosis Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback. Hyperkyphosis,Hyperkyphoses,Kyphoses
D008297 Male Males
D009456 Neurofibromatosis 1 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D009984 Orthopedic Fixation Devices Devices which are used in the treatment of orthopedic injuries and diseases. Device, Orthopedic Fixation,Devices, Orthopedic Fixation,Fixation Device, Orthopedic,Fixation Devices, Orthopedic,Orthopedic Fixation Device
D011300 Preoperative Care Care given during the period prior to undergoing surgery when psychological and physical preparations are made according to the special needs of the individual patient. This period spans the time between admission to the hospital to the time the surgery begins. (From Dictionary of Health Services Management, 2d ed) Care, Preoperative,Preoperative Procedure,Preoperative Procedures,Procedure, Preoperative,Procedures, Preoperative
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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