Scoliosis in a Case of Neurofibromatosis Type

Abstract

Neurofibromatosis Type 1 (NF1) is a multisystemic disease, manifesting as abnormalities ofthe nervous tissue, bones, soft tissue, and skin. The entity is dominantly inherited and affects 1in 4000 individuals. Cafe-au-lait spots, peripheral neurofibromas, Lisch nodules and axillaryfreckling are the characteristics of NF1. Bone abnormalities are usually observed in NF1. Scoliosis is a skeletal anomaly reported to beassociated with NF1. We made a diagnosis of NF1 and scoliosis secondary to NF1 in our 26year-old male case with complaints of low back pain, a mass on his left hip beginning 10 yearsago and growing and with cafe-au-lait spots on his back. We think that, in daily practice, it isimportant to look for cafe-au-lait spots with inspection in the patients coming with the complaintof low back pain and when these spots are observed a diagnosis of NF1 should be suspected.Besides, we wanted to emphasize that scoliosis should be searched in the patients with adiagnosis of NF1 and low back pain

Keywords

• Neurofibromatosis,scoliosis,low back pain

Nörofibromatozis Tip 1 Olgusunda Skolyoz

Abstract

Nörofibromatozis Tip 1 (NF1) sinir dokusunu, kemikleri, yumuşak dokuyu ve deriyi tutan,otozomal dominant geçiş gösteren ve 4000 kişiden 1’inde görülen multisistemik bir hastalıktır.NF1’in karakteristik özellikleri; cafe au lait lekeleri, periferal nörofibromlar, Lisch nodülleri veaksiler çillenmedir. NF1’de kemik anomalilerine sıklıkla rastlanır. Skolyoz, NF1 ile ilişkili olduğu bildirilen biriskelet anomalisidir. Bel ağrısı ve 10 yıl önce sol kalça bölgesinde başlayan ve büyüyen kitleyakınmalarıyla başvuran ve sırtında cafe-au-lait lekesi olan 26 yaşındaki erkek olgumuza NF1ve NF1’e sekonder nondistrofik skolyoz tanısı koyduk. Günlük pratikte bel ağrısı şikayeti ilegelen hastalarda inspeksiyon ile cafe-au-lait lekeleri araştırılmasının ve bu lekeler görüldüğündeNF’den şüphelenilmesinin önemli olduğunu düşünüyoruz. Ayrıca NF1 tanısı alan ve bel ağrısıolan hastalarda skolyozun araştırılması gerektiğini vurgulamak istedik

Keywords

• Nörofibromatozis,skolyoz,bel ağrısı

References

1. Crawford AH: Neurofibromatosis. In: Weinstein SL,editor. The pediatric spine, principles and practice. 2nd edition. Philadelphia. Lippincott Williams &Wilkins. pp. 471–90, 2001.
2. Crawford AH, Schorry EK: Neurofibromatosis update. J Pediatr Orthop. 26(3):413–23, 2006.
3. Crawford AH, Parikh S, Schorry EK, et al: The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am. 89:123–42, 2007.
4. Lammert M, Kappler M, Mautner VF, et al: Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int. 16(9):1161–6, 2005.
5. Gutman DH, Aynsworth A, Carey JC, et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 278:51-57, 1997.
6. Gabriel KR: Neurofibromatosis. Curr Opin Pediatr 9(1):89– 93, 1997.
7. Crawford AH, Schorry EK: Neurofibromatosis in children: the role of the orthopaedist. J Am Acad Orthop Surg. 7(4):217–30, 1999.
8. Crawford AH, Herrera-Soto J: Scoliosis associated with neurofibromatosis. Orthop Clin N Am. 38:553-562, 2007.

9. Sirois JL 3rd, Drennan JC: Dystrophic spinal deformity in neurofibromatosis. J Pediatr Orthop. 10(4):522–6, 1990.
10. Tsirikos AI, Saifuddin A, Noordeen MH: Spinal deformity in neurofibromatosis type-1: diagnosis and treatment. Eur Spine J. 14(5):427–39, 2005.
11. Crawford AH. Neurofibromatosis in children. Acta Orthop Scand Suppl 218:1–60, 1986.
12. Halmai V, Doman I, de Jonge T, et al: Surgical treatment of spinal deformities associated with neurofibromatosis type 1. Report of 12 cases. J Neurosurg. 97(3 Suppl):310–6, 2002.
13. Ruggieri M, Huson SM: The neurofibromatosis. An overview. Ital J Neurol Sci. 20:89-108, 1999.