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1 UC Dvis UC Dvis Previously Published Works Title Rib hed protrusion into the centrl cnl in type 1 neurofibromtosis Permlink Journl Peditric Rdiology, 40(12) ISSN Authors Ton, Jimmy Stein-Wexler, Rebecc Yen, Philip Publiction Dte DOI /s Peer reviewed escholrship.org Powered by the Cliforni Digitl Librry University of Cliforni

2 Peditr Rdiol (2010) 40: DOI /s ORIGINAL ARTICLE Rib hed protrusion into the centrl cnl in type 1 neurofibromtosis Jimmy Ton & Rebecc Stein-Wexler & Philip Yen & Munish Gupt Received: 10 My 2010 /Revised: 25 June 2010 /Accepted: 6 July 2010 /Published online: 3 August 2010 # The Author(s) This rticle is published with open ccess t Springerlink.com Abstrct Bckground Intrspinl rib hed disloction is n importnt but under-recognized consequence of dystrophic scoliosis in ptients with neurofibromtosis 1 (NF1). Objective To present clinicl nd imging findings of intrspinl rib hed disloction in NF1. Mterils nd methods We retrospectively reviewed clinicl presenttion, imging, opertive reports nd postopertive courses in four NF1 ptients with intrspinl rib hed disloction nd dystrophic scoliosis. We lso reviewed 17 cses from the English literture. Results In ech of our four cses of intrspinl rib hed disloction, single rib hed ws dislocted on the convex pex of the curve, most often in the mid- to lower thorcic region. Cord compression occurred in hlf of these ptients. Anlysis of the literture yielded similr findings. Only three cses in the literture demonstrtes the MRI ppernce of J. Ton : R. Stein-Wexler (*) : P. Yen Deprtment of Rdiology, University of Cliforni, Dvis Medicl Center nd U.C. Dvis Children s Hospitl, 4860 Y St. Suite 3100, Scrmento, CA 95817, USA e-mil: rebecc.steinwexler@ucdmc.ucdvis.edu R. Stein-Wexler Deprtment of Rdiology, Shriners Hospitl of Northern Cliforni, Scrmento, CA, USA M. Gupt Deprtment of Orthopedic Surgery, University of Cliforni, Dvis Medicl Center nd U.C. Dvis Children s Hospitl, Scrmento, CA, USA M. Gupt Deprtment of Orthopedic Surgery, Shriners Hospitl of Northern Cliforni, Scrmento, CA, USA this entity; most employ CT. All of our cses include both MRI nd CT; we review the subtle findings on MRI. Conclusion Although intrspinl rib hed disloction is redily pprent on CT, sometimes MRI is the only crosssectionl imging performed. It is essentil tht rdiologists become fmilir with this entity, s subtle findings hve significnt implictions for surgicl mngement. Keywords Neurofibromtosis. Dystrophic scoliosis. Rib hed. MRI Introduction Neurofibromtosis type 1 (NF1), lso known s von Recklinghusen disese, involves the spine in 10% to 69% of ptients [1, 2]. Kyphoscoliosis is the most common spinl deformity nd presents in dystrophic nd nondystrophic forms [2, 3]. Nondystrophic scoliosis resembles idiopthic scoliosis nd is usully long-segment biconvex curve secondry to leg length discrepncy [2]. Dystrophic scoliosis, on the other hnd, is chrcterized by progressive, shrply ngulted short-segment curvture with severe wedging, rottion nd sclloping of the picl vertebrl bodies [3]. Forminl enlrgement, spindling of the trnsverse processes nd penciling of the picl ribs cn lso be seen with dystrophic scoliosis [2]. A few cse reports hve described spinl cnl penetrtion by dislocted ribs in ptients with NF1 nd dystrophic scoliosis. Although most re symptomtic, spinl cord compression with resultnt prpresis nd prplegi hve been documented both before nd fter spinl instrumenttion [1, 4 15]. We report the clinicl nd rdiogrphic findings of four cses of rib hed disloction into the spinl cnl in ptients with dystrophic scoliosis secondry to NF1, including

3 Peditr Rdiol (2010) 40: rdiogrphs, CTs nd MRIs, s well s clinicl mnifesttions nd mngement strtegies in this uncommon but importnt entity. Mterils nd methods This study ws conducted with IRB review nd pprovl. We conducted retrospective review of imging studies performed on four children with NF1 referred for surgery t our institutions with rib hed protrusion into the spinl cnl identified on preopertive imging nd confirmed t surgery. Clinicl history, imging studies, reports nd opertive reports, nd post-opertive courses were reviewed. We lso present n nlysis of children with this entity in the English literture from 1986 to Results Between 2003 nd 2009, rib hed disloction into the spinl cnl ws found t our institutions in four children, rnging in ge from 9 to 14 yers old. Rdiogrphs, CTs, MRIs, nd opertive reports were vilble in ll four, long with clinicl follow-up from severl months to 6 yers. Tble 1 summrizes clinicl nd imging findings. Tble 2 summrizes the 17 cses tht hve been reported in the English literture. Cse 1 is 14-yer-old boy with severe progressive scoliosis who complined of neck nd upper bck pin. He ws mildly tender to plption t the pex of his curve. He hd slight hyperreflexi of the left lower extremity (3+) nd few bets of nkle clonus bilterlly. The preopertive spine rdiogrph (Fig. 1) demonstrtes penciling nd displcement of the fourth nd fifth ribs t the pex of the curve, lthough only the fourth ws in n bnorml position on CT nd MRI. Rib hed resection cn be seen on the postopertive spine rdiogrph. Cse 2 is n 11-yer-old symptomtic girl with severe kyphoscoliosis. The preopertive spine CT nd MRI demonstrte rib hed displcement into the spinl cnl t the pex of the curve, with cord impingement on MRI (Fig. 2). Cse 3 is n 11-yer-old boy with progressive but symptomtic scoliosis nd kyphosis. Spine CT nd MRI demonstrte no evidence of enlrged neurl formin or vertebrl sclloping, but displcement of the right ninth rib with spinl cnl nrrowing (Fig. 3). Cse 4 is 9-yer-old girl with progressive scoliosis who developed bck pin nd right foot wekness s well s hyperreflexi of both lower extremities nd sustined nkle clonus. CT nd MRI revel neurofibrom destroying portions of the T4 to T6 vertebrl bodies nd filling djcent neurl formin, with intrspinl displcement of the right sixth rib (Fig. 4). MRI lso shows cord compression by the displced rib hed. Discussion Dystrophic scoliosis in children with NF is typiclly chrcterized by short-segment, shrply ngulted curve with ssocited wedging nd sclloping of the vertebrl bodies. It cn be ccompnied by vertebrl body rottion, widening of the intervertebrl formin nd penciling of rib Tble 1 Summry of clinicl nd imging findings (4 cses) Age (yrs) Sex Curve (Apex, Cobb ngle); displced rib(s) Signs & symptoms Dignosis mde on Cord impingement/ compression Presence of neurofibrom Mngement 14 M Levoscoliosis (61 ); convex side left 4th rib 11 F Hemivertebr T9; Dextroscoliosis T9 (123 ); Kyphosis (62 ); convex side right 10th rib 11 M Dextroscoliosis (90 ); Kyphosis (85 ); convex side right 9th rib 9 F Dextroscoliosis (60 ); convex side right 6th rib Bck pin; mild lower limb hyperreflexi nd nkle clonus CT, MRI No Yes T4 lminectomy with rib hed resection nd posterior fusion/instrumenttion Asymptomtic CT, MRI Yes No Multilevel diskectomies, T9 lminectoy nd posterior fusion with resection of 10th rib hed Asymptomtic CT, MRI No No 9th rib hed resection, nterior nd posterior fusion nd T9 lminectomy Bck pin; right foot wekness, hyper-reflexi nd clonus CT, MRI Yes Yes Resection of neurofibrom nd 6th rib hed; combined nterior nd posterior fusion nd instrumenttion

4 1904 Peditr Rdiol (2010) 40: Tble 2 Summry of 17 cses from literture review Authors Age (yrs) Sex Curve (Apex, Cobb ngle); displced rib (s) Flood et l. 15 M Dextroscoliosis T4 T8 (80 ); multiple ribs on convex side Mjor Deguchi 13 F Levokyphoscoliosis (T9, 52 ); convex 8, 9 & 10th ribs 5 F Levoscoliosis (T7, 75); two ribs on convex side 11 M Double thorcic scoliosis (29 ); convex side 4th rib 12 F Dextrokyphoscoliosis T4 T7 (T5, 90 ); convex side 5 & 6th ribs Dcher et l. Kmth Khoshhl 10 F Dextroscoliosis (T8, 48 ); convex side 8th rib 13 M Dextroscoliosis T7 T11; convex side 10 h rib 16 M Dextroscoliosis T3 T6 (T5, 83 o ); convex side 5th rib Mukhtr Gkioks 10 M Dextroscoliosis T4 T12 (76 o ); convex side 9th rib 13 F Levokyphoscoliosis T4 T10 (T8, 75 o ); convex side 8th rib Signs & Symptoms Dignosis Mde on Cord impingement/ compression Presence of Neurofibrom Mngement Knee & nkle clonus CT-M No Yes Two-stge vertebrl wedge resection with rib excision nd fusion. Trction used periopertively. Curve decrese to 45 degrees with resolution of clonus Trnsient loss of senstion below the wist nd inbility to move lower extremities fter fll on rib hump CT-M No No Two-stge: nterior fusion with resection of rib heds followed by 2nd stge posterior fusion nd segmentl spinl instrumenttion None CT No No Two-stge: nterior interbody fusion with resection of rib heds followed by 2nd stge posterior fusion nd segmentl spinl instrumenttion None CT-M No No Posterior fusion with resection of rib hed Wekness of the lower extremities, difficulty wlking with eventul prpresis, hyperesthesi below wist, nkle clonus nd knee/nkle hyperreflexi Bilterl nkle clonus nd dytime micturition CT-M Yes No Two-stge combined nterior nd posterior spinl fusion nd instrumenttion. Dislocted rib hed ws resected. 2 yr f/u with norml neurologicl sttus CT-M No No Two-stge spinl fusion with Cotrel-Dubousset instrumenttion. 1 yr f/u with norml neurologicl sttus None CT No Yes Intrspinl rib hed resection with right T9 10 hemilminectomy nd posterior fusion/ instrumenttion Postopertive T5 prpresis CT Yes No Initilly performed in situ posterior fusion without correction or instrumenttion. Anterior decompression with rib hed resection ws performed fter T5 prpresis developed Bck pin; right leg wekness nd rdiculopthy down to toes when he rolled to his right side Git difficulty, bilterl Bobinski, nkle clonus, right foot drop, decresed senstion/hyperreflexi in lower limbs, nd dytime micturition CT nd CT-M Yes No Prtil rib resection with rib hed left in situ. Posterior fusion from T6 to L1 ws performed CT, MRI Yes No Rib hed resection with posterior spinl fusion/ instrumenttion from T1 to L2. Cobb ngle postopertively ws 65 nd ptient neurologicl sttus returned to bseline

5 Peditr Rdiol (2010) 40: Tble 2 (continued) Authors Age (yrs) Sex Curve (Apex, Cobb ngle); displced rib (s) Signs & Symptoms Dignosis Mde on Cord impingement/ compression Presence of Neurofibrom Mngement Crwford 5 Ylcin Cervicothorcic kyphoscoliosis Protrusion of three rib heds Protrusion of one rib hed Protrusion of one rib hed 14 M Dextroscoliosis; convex side two ribs 12 F Dextroscoliosis T8 L1; convex side rib 6 M Levoscoliosis TL spine; convex side 10 & 11th ribs Cppell 14 M Double thorcic kyphoscoliosis (kyphosis 120 o ); convex side 5th rib CT CT Asymptomtic CT None CT, MRI Yes Yes Hemilminectomy followed by rib hed resection nd posterior fusion with instrumenttion None CT No Yes Hemilminectomy followed by vertebrl trnsltion nd pedicle screw fixtion. Rib hed ws not resected None Rdiogrphs &CT Preopertive wekness of lower limbs. Postopertive wekness nd prpresis Yes Yes Yes 5-level nnulotomy with resection but not removl of displced rib heds. Deformity correction with fusionless instrumenttion with pedicle screws CT, MRI Yes No Initilly performed two-stge nterior nd posterior instrumenttion nd rthrodesis. Subsequently, rib hed resected nd posterior cord decompression fter postopertive prpresis developed Imges re demonstrted in review rticle on NF1 spine, but dditionl informtion is not vilble CT-M CT myelogrphy

6 1906 Peditr Rdiol (2010) 40: Fig. 1 Cse 1. Rdiogrph shows levoscoliosis of the upper cervicl spine with penciling deformity nd medil positioning of the left fourth rib hed (rrow) reltive to the pedicle. Note tht the fifth rib is lso mlpositioned, lthough it ws not intrspinl on cross-sectionl imging. b, c Axil CT nd T2- W MR imges demonstrte intrspinl displcement of the left fourth rib hed (rrow) with nrrowing of the spinl cnl but without cord impingement. d Post-opertive spine rdiogrph shows intervl spinl rod nd pediculr screw plcement with improved levoscoliosis. The displced left fourth rib hed hs been resected (rrow) heds. These bnormlities predispose children with dystrophic scoliosis to intrspinl rib hed disloction [1]. To our knowledge, totl of 21 (including our four) cses of intrspinl rib hed disloction in NF1 ptients hve been reported in the English literture. The mjority of documented cses of intrspinl rib hed disloction in NF1 occur during the teenge yers (ges rnge from 5 to 16 yers) [1, 4 15], with no gender predisposition. Although generlly symptomtic, the clinicl presenttion of intrspinl rib displcement vries. Two of our ptients hd moderte symptoms; the other two were essentilly symptomtic. This prllels the cses we found in the literture, with nine of the 15 for whom this informtion ws vilble being essentilly symptomtic. The other six hd neurologicl symptoms rnging from mild sensory nd motor deficits to prplegi nd prpresis. Both Khoshhl nd Ellis [10] nd Cppell [15] describe the postopertive compliction of rib hed disloction in NF ptients who developed prpresis severl weeks fter posterior spinl fusion without recognition of or ttempt t correcting rib hed protrusion. In retrospect, rib hed protrusion hd been present on preopertive MRI in

7 Peditr Rdiol (2010) 40: There is no cler consensus regrding the tretment of intrspinl rib hed disloction in dystrophic scoliosis, with most fvoring excision of the rib hed (under unusul circumstnces, the rib hed my be left in plce) [14]. However, preopertive recognition is essentil for surgicl plnning so tht the reltionship of rib to cord cn be ssessed intr-opertively nd mnipultion performed with pproprite cution. Fig. 2 Cse 2. Axil CT shows intrspinl disloction of the right 10th rib with mrked nrrowing of the spinl cnl. b Coronl T1-W MR imge demonstrtes displcement of the rib hed (white rrow) intrspinlly with nrrowing of the cnl nd impingement of the cord (blck rrow) Cppell s ptient but hd not been recognized. Both cses illustrte the importnce of delineting the presence of intrspinl rib hed disloction preopertively since surgicl correction of the scoliosis cn bring the displced spinl cord to its more ntomicl loction nd result in higher risk of cord impingement by the unrecognized dislocted rib hed. Although prpresis cused by intrspinl rib hed disloction is rre, it remins dignostic considertion in NF1 ptients who develop cute or progressive neurologicl symptoms. Of the 17 cses presented in the literture for which clinicl informtion is vilble, six hd evidence of cord compromise or impingement by the displced rib hed. Our cse series revels similr incidence, with two of our four ptients demonstrting such findings. In our cses, s in the literture, rib hed disloction occurred t the convex side of the pex of the scoliosis, most often involving the mid- to lower ribs. Furthermore, single rib ws involved in the mjority of cses (10 out of 17) [5, 8 15], nd in ll of our ptients. Fig. 3 Cse 3. Axil CT demonstrtes displcement of the right ninth rib hed intrspinlly. b, c Contiguous post-contrst xil T1-W MR imges show the dislocted rib hed (white rrow) with nrrowing of the spinl cnl but no cord compromise. The cord (blck rrow) is locted t the concve side of the curvture

8 1908 Peditr Rdiol (2010) 40: However, MRI excellent for delineting cord nd prspinous soft-tissue pthology is sometimes the only cross-sectionl preopertive imging performed. Concern over rdition exposure might limit preopertive CT further in the future, especilly if criticl findings like rib hed disloction cn be dignosed ccurtely with MRI. Delinetion of bony ntomy is certinly more difficult with MRI thn with CT, but MRI cn demonstrte intrspinl rib hed disloction, s in our four ptients. In our experience, intrspinl displcement of rib heds is best shown on T2- weighted imges in the xil nd coronl plnes. Conclusion Intrspinl rib hed disloction in NF1 is n uncommon entity with significnt clinicl nd surgicl implictions. Although ffected ptients re generlly symptomtic, presenttion rnges from mild bck pin to wekness nd other myelopthic symptoms. Clinicl dignosis is difficult, nd rdiologicl dignosis requires close scrutiny for subtle findings, such s medil nd superior positioning of penciled rib hed nd even then it is extremely chllenging. Intrspinl rib hed disloction is relibly dignosed with CT in ll reported cses in the literture nd in the cses we present. However, MRI with its excellent delinetion of soft tissues nd cord, s well s its lck of rdition is often performed without CT in the work-up of children with scoliosis, nd coronl nd xil T2-W sequences cn demonstrte intrspinl rib hed disloction. Evlution of osseous structures with MRI is certinly more difficult thn with CT, nd it is essentil tht rdiologists become fmilir with rib hed displcement, s subtle findings hve significnt implictions for surgicl mngement. Fig. 4 Cse 4. Axil CT shows widening of the neurl formin with intrspinl displcement of the right sixth rib hed (blck rrow). Liner ossific density to the right of the displced rib hed represents the superior rticulting fcet of the lower vertebre. b Coronl T1-W post-contrst MRI revels n enhncing right prspinous neurofibrom (rrows) extending into the spinl cnl t the pex of the curve. There is displcement of the cord to the left by the dislocted right sixth rib hed (rrowhed) Spine rdiogrphy is usully the initil imging for scoliosis, but rdiogrphic dignosis of intrspinl rib hed disloction is extremely difficult. All reported intrspinl rib hed disloctions hve been relibly demonstrted by CT, nd our cses re no exception. CT myelogrphy ccurtely depicts the reltionship between the spinl cord nd the dislocted rib, but MRI demonstrtes this noninvsively. Acknowledgement We thnk Mrs. Julie A. Ostoich-Prther for her ssistnce with the preprtion of the imges. Open Access This rticle is distributed under the terms of the Cretive Commons Attribution Noncommercil License which permits ny noncommercil use, distribution, nd reproduction in ny medium, provided the originl uthor(s) nd source re credited. References 1. Akbrni BA, Gbriel KR, Beckmn E et l (1992) Prevlence of scoliosis in neurofibromtosis. Spine 17(suppl 8): Crwford AH, Bgmery N (1986) Osseous mnifesttions of neurofibromtosis in childhood. J Peditr Orthop 6: Winter RB, Moe JH, Brdford DS et l (1979) Spine deformity in neurofibromtosis. A review of one hundred nd two ptients. J Bone Jt Surg Am 61:

9 Peditr Rdiol (2010) 40: Brker D, Wright E, Nguyen K et l (1987) Gene for Von Recklinghusen neurofibromtosis is in the pericentromeric region of chromosome 17. Science 236: Dcher JN, Zkine S, Monroc M et l (1995) Rib displcement thretening the spinl cord in scoliotic child with neurofibromtosis. Peditr Rdiol 25: Deguchi M, Kwkmi N, Sito H et l (1995) Prpresis fter rib penetrtion of the spinl cnl in neurofibromtosis scoliosis. J Spinl Disord 8: Flood BM, Butt WP, Dickson RA (1986) Rib penetrtion of the intervertebrl formin in neurofibromtosis. Spine 11: Gkioks A, Hdzimichlis S, Vsilidis E et l (2006) Pinful rib hump: new clinicl sign for detecting intrspinl rib displcement in scoliosis due to neurofibromtosis. Scoliosis 1:10 9. Kmth SV, Kleinmn PK, Rglnd RL et l (1995) Intrspinl disloction of the rib in neurofibromtosis: cse report. Peditr Rdiol 25: Khoshhl KI, Ellis RD (2000) Prpresis fter posterior spinl fusion in neurofibromtosis secondry to rib displcement: cse report nd literture review. J Peditr Orthop 20: Mjor MR, Huizeng BA (1988) Spinl cord compression by displced ribs in neurofibromtosis. J Bone Joint Surg Am 70: Mukhtr IA, Letts M, Kontio K (2005) Spinl cord impingement by displced rib in scoliosis due to neurofibromtosis. Cn J Surg 48: Crwford AH, Prikh S, Schorry EK et l (2007) The immture spine in type-1 neurofibromtosis. J Bone Jt Surg Am 1(89 Suppl): Ylcin N, Br-on E, Yzici M (2008) Impingement of spinl cord by dislocted rib in dystrophic scoliosis secondry to neurofibromtosis type 1. Spine 33:E881 E Cppell M, Bettini N, Dem E et l (2008) Lte post-opertive prpresis fter rib penetrtion of the spinl cnl in ptient with neurofibromtosis scoliosis. J Orthop Trumtol 9:

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