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Rheumatology International

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18.06.2019 | Cases with a Message

Klippel–Feil syndrome misdiagnosed as spondyloarthropathy: case-based review

verfasst von: Stjepan Čota, Iva Žagar, Valentina Delimar, Mislav Pap, Doroteja Perić, Porin Perić

Erschienen in: Rheumatology International | Ausgabe 9/2019

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Abstract

Spondyloarthropathy refers to any joint disease of the vertebral column, but the term is mainly used for a specific group of disorders called seronegative spondyloarthropathies (SpAs). The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are commonly shared features of SpAs. Klippel–Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of one or more cervical vertebrae, accompanied by various skeletal and extra-skeletal anomalies. We report a case of an adult male patient with HLA B27 positivity presenting with chronic cervical spine pain accompanied by morning stiffness and periodic night pain, with radiologically confirmed ankylosis and fusion of several cervical segments. His medical history included urogenital abnormalities operated in childhood and mild mitral prolapse. Initially suspected diagnosis of an early axial form of SpA was rejected after thorough workup. Instead, the nature of vertebral defects along with the past medical history of urogenital and cardiac abnormalities pointed towards the diagnosis of KFS. HLA B27 presence can be a confounder in patients presenting with spinal pain and that is why the differential diagnosis of CSD-s and SpA can be challenging in some patients.

Proft F, Poddubnyy D (2018) Ankylosing spondylitis and axial spondyloarthritis: recent insights and impact of new classification criteria. Ther Adv Musculoskelet Dis 10(56):129-139. https://doi.org/10.1177/59720X18773726 CrossRefPubMedPubMedCentral

Feldtkeller E, Khan M, Van Der Heijde D, Van Der Linden S, Braun, J (2003) Age at disease onset and diagnosis delay in HLA-B27 negative vs. positive patients with ankylosing spondylitis. Rheumatol Int. 23(2):61–66. https://doi.org/10.1007/s00296-002-0237-4

Baraliakos X, Braun J (2015) Non-radiographic axial spondyloarthritis and ankylosing spondylitis: what are the similarities and differences? RMD Open 1(Suppl 1):e000053. https://doi.org/10.1136/rmdopen-2015-000053 CrossRefPubMedPubMedCentral

Rudwaleit M, Landewé R, Van der Heijde D, Listing J, Brandt J, Braun JV et al (2009) The Development of Assessment of SpondyloArthritis International Society classification criteria for axial spondyloarthritis (part I): classification of paper patients by expert opinion including uncertainty appraisal. Ann Rheum Dis. 68(6):770–776. https://doi.org/10.1136/ard.2009.108217 CrossRefPubMed

Rudwaleit M, Van Der Heijde D, Landewé R, Listing J, Akkoc N, Brandt J et al (2009) The Development of Assessment of SpondyloArthritis International Society classification criteria for axial spondyloarthritis (part II): validation and final selection. Ann Rheum Dis 68(6):777–783. https://doi.org/10.1136/ard.2009.108233 CrossRefPubMed

Qian BP, Qiu Y, Wang B, Zhu ZZ, Wang WJ, Ma WW (2010) Unusual association of ankylosing spondylitis with congenital spinal deformity. Spine 35(25):E1512–E1515. https://doi.org/10.1097/BRS.0b013e3181f3cf63 CrossRefPubMed

Rizvi A, Iwanaga J, Oskouian RJ, Loukas M, Tubbs RS (2018) The course of the V2 segment of the vertebral arteries in Klippel–Feil syndrome: a case report. Cureus 10(7):e3038. https://doi.org/10.7759/cureus.3038 CrossRefPubMedPubMedCentral

Tracy MR, Dormans JP, Kusumi K (2004) Klippel–Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 424:183–190. https://doi.org/10.1097/01.blo.0000130267.49895.20 CrossRef

Stelzer JW, Flores MA, Mohammad W, Esplin N, Mayl JJ, Wasyliw C (2018) Klippel–Feil syndrome with sprengel deformity and extensive upper extremity deformity: a case report and literature review. Case Rep Orthop 2018:5. https://doi.org/10.1155/2018/5796730 CrossRef

10.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Manson FD et al (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel–Feil syndrome. Hum Mutat 29(8):1017–1027. https://doi.org/10.1002/humu.20741 CrossRefPubMed

11.

Hensinger RN, Lang JE, Macewen GD (1974) Klippel–Feil syndrome: a constellation of associated anomalies. J Bone Jt Surg Am 56(6):1246–1253CrossRef

12.

Sieper J, van der Heijde D (2013) Nonradiographic axial spondyloarthritis: new definition of an old disease? Arthritis Rheum 65(3):543–551. https://doi.org/10.1002/art.37803 CrossRefPubMed

13.

Weisman MH, Witter JP, Reveille JD (2012) The prevalence of inflammatory back pain: population-based estimates from the US National Health and Nutrition Examination Survey, 2009–10. Ann Rheum Dis Annrheumdis 72:369–373. https://doi.org/10.1136/annrheumdis-2012-201403 CrossRef

14.

Reveille JD, Hirsch R, Dillon CF, Carroll MD (2009) Weisman MH (2012) The prevalence of HLA–B27 in the US: data from the US National Health and Nutrition Examination Survey. Arthritis Rheum 64(5):1407–1411. https://doi.org/10.1002/art.33503 CrossRef

15.

Braun A, Saracbasi E, Grifka J, Schnitker J, Braun J (2011) Identifying patients with axial spondyloarthritis in primary care: how useful are items indicative of inflammatory back pain? Ann Rheum Dis 70(10):1782–1787. https://doi.org/10.1136/ard.2011.151167 CrossRefPubMedPubMedCentral

16.

Solis Cartas U, Prada Hernández DM, Gómez JAM, de Armas Hernandez A, Garcia DMA (2015) Espondilitis Anquilosante y Síndrome de Klippel–Feil Una asociación infrecuente. Revista Cubana de Reumatología 17(S1):206–210

17.

Clarke RA, Singh S, McKenzie H, Kearsley JH, Yip MY (1995) Familial Klippel–Feil syndrome and paracentric inversion inv (8)(q22. 2q23. 3). Am J Hum Genet. 57(6), 1364. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801422/pdf/ajhg00038-0111.pdf

18.

Klippel M (1912) Un cas d'absence des vertebres cervicales. Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv Iconog Salpetriere 25:223–250

19.

Feil A (1919) L'absence et la diminuation des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Théses de paris.

20.

Kaplan KM, Spivak JM, Bendo JA (2005) Embryology of the spine and associated congenital abnormalities. Spine J 5(5):564–576. https://doi.org/10.1016/j.spinee.2004.10.044 CrossRefPubMed

21.

Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Drummond G et al (2009) Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet 19(2):287–298. https://doi.org/10.1093/hmg/ddp496 CrossRefPubMed

22.

Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Erdin S et al (2015) Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. Am J Med Genet A 167(11):2795–2799. https://doi.org/10.1002/ajmg.a.37263 CrossRef

23.

Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B et al (2013) Mutation in MEOX1 gene causes a recessive Klippel–Feil syndrome subtype. BMC Genet 14(1):95. https://doi.org/10.1186/1471-2156-14-95 CrossRefPubMedPubMedCentral

24.

Hensinger RN, MacEwen GD (1982) Congenital anomalies of the spine. The Spine. Philadelphia: WB Saunders 1982:188–315

25.

Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU (1997) Scoliosis and congenital anomalies associated with Klippel–Feil syndrome types I-III. Spine 22(4):396–401. https://journals.lww.com/spinejournal/Abstract/1997/02150/Scoliosis_and_Congenital_Anomalies__Associated.8.aspx. Accessed 10 Dec 2018

26.

Warner WC (1998) Pediatric cervical spine. In: Canale ST (ed) Campbell’s operative orthopaedics, 9th edn. Mosby, St Louis, pp 2815–2847

27.

Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A (2018) The Prevalence of Klippel–Feil syndrome: a computed tomography–based analysis of 2917 patients. Spine Deformity 6(4):448–453. https://doi.org/10.1016/j.jspd.2017.12.002 CrossRefPubMed

28.

Pizzutillo PD, Woods M, Nicholson L, MacEwen GD (1994) Risk factors in Klippel–Feil syndrome. Spine 19(18):2110–2116CrossRefPubMed

29.

Eulenberg M (1863) Casuistische mittelheilungen aus dem gembeite der orthopadie. Arch Klin Chir 4:301–311

30.

Kolliker T (1891) Mittheilungen aus der chirurgischen casuistic und kleinere mittheilungen. Bemerkungen zum aufsatze von Dr Sprengel Die angeborene verschiebung des schulterblattes nach oben. Arch Klin Chir 42:925

31.

Sprengel O (1891) Die angeborene Verschiebung des Schulterblattes nach oben. Arch Klin Chir 42:545

32.

Cavendish ME (1972) Congenital elevation of the scapula. J Bone Jt Surg Br 54(3):395–408CrossRef

33.

Naikmasur VG, Sattur AP, Kirty RN, Thakur AR (2011) Type III Klippel–Feil syndrome: case report and review of associated craniofacial anomalies. Odontology 99(2):197CrossRefPubMed

34.

Stupar NV, Pavlov-Dolijanovic S, Hatib N, Banko B, Djukic M, Jakoba NN (2016) Multiple major and minor anomalies associated with Klippel–Feil syndrome: a case report. Arch Rheumatol. 31(1):82. https://doi.org/10.5606/ArchRheumatol.2016.5714 CrossRef

35.

Yildirim N, Arslanoğlu A, Mahiroğullari M, Şahan M, Özkan H (2008) Klippel–Feil syndrome and associated ear anomalies. Am J Otolaryngol 29(5):319–325. https://doi.org/10.1016/j.amjoto.2007.09.009 CrossRefPubMed

36.

Zhang YK, Geng SM, Liu PN, Lv G (2016) Association of craniovertebral junction anomalies, Klippel–Feil syndrome, ruptured dermoid cyst and mirror movement in one patient: a unique case and literature review. Turk Neurosurg 26(1):153–165. https://doi.org/10.5137/1019-5149.JTN.12145-14.2 CrossRefPubMed

37.

Sharma D, Sharma CM (2014) A sporadic case of Klippel–Feil syndrome type II. J Clin Neonatol. 3(1):57–58. https://doi.org/10.4103/2249-4847.128748 CrossRefPubMedPubMedCentral

38.

Moore WB, Matthews TJ, Rabinowitz R (1975) Genitourinary anomalies associated with Klippel–Feil syndrome. J Bone Jt Surg Am 57(3):355–357CrossRef

39.

Brokinkel B, Wiebe K, Hesselmann V, Filler TJ, Ewelt C, Müller-Hofstede C et al (2013) Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature. Eur Spine J 22(3):517–520. https://doi.org/10.1007/s00586-013-2769-6 CrossRefPubMedCentral

40.

Adorno A, Alafaci C, Sanfilippo F, Cafarella D, Scordino M, Granata F et al (2015) Malignant teratoma in Klippel–Feil syndrome: a case report and review of the literature. J Med Case Rep 9(1):229. https://doi.org/10.1186/s13256-015-0700-y CrossRefPubMedPubMedCentral

41.

Guidoni E, Lotti F, Geronzi U, Sorrentino LA, Grosso S, Municchi G (2018) Autoimmune thyroiditis in Klippel–Feil syndrome with Arnold Chiari and syringomyelia. Thyroid 381, P2. https://abstracts.eurospe.org/hrp/0089/eposters/hrp0089P2-P381_eposter.pdf. Accessed 15 Dec 2018

42.

Can A, Rubio EJDS, Jasperse B, Verdijk RM, Harhangi BS (2015) Spinal neurenteric cyst in association with Klippel–Feil syndrome: case report and literature review. World Neurosurg. 84(2):592–e9. https://doi.org/10.1016/j.wneu.2015.03.015 CrossRefPubMed

43.

Clarke RA, Catalan G, Diwan AD, Kearsley JH (1998) Heterogeneity in Klippel–Feil syndrome: a new classification. Pediatr Radiol 28(12):967–974CrossRefPubMed

44.

Samartzis D, Herman J, Lubicky JP, Shen FH (2006) Classification of congenitally fused cervical patterns in Klippel–Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine 31(21):E798–E804. https://doi.org/10.1097/01.brs.0000239222.36505.46 CrossRefPubMed

45.

Guille JT, Miller A, Bowen JR, Forlin E, Caro PA (1995) The natural history of Klippel–Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediatr Orthop 15(5):617–626CrossRefPubMed

Titel: Klippel–Feil syndrome misdiagnosed as spondyloarthropathy: case-based review
verfasst von: Stjepan Čota
Iva Žagar
Valentina Delimar
Mislav Pap
Doroteja Perić
Porin Perić
Publikationsdatum: 18.06.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Rheumatology International / Ausgabe 9/2019
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI: https://doi.org/10.1007/s00296-019-04346-0

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