2019, Number 3
<< Back Next >>
An Med Asoc Med Hosp ABC 2019; 64 (3)
Type 3 Klippel-Feil syndrome
Taylor-Martínez MA, Villanueva-Castro E, Muñoz-Romero I, De Leo-Vargas R
Language: Spanish
References: 21
Page: 221-224
PDF size: 382.06 Kb.
ABSTRACT
Klippel-Feil syndrome is a rare congenital bone malformation characterized by the fusion of two or more cervical vertebrae and occasionally thoracic or lumbar vertebrae as a result of incomplete cervical segmentation during embryonic development. We present a 48-year-old man, with lumbar pain of 15 years of prickling type evolution, sometimes of electric shock type, which after pain increased pain and presented paresthesias in the left pelvic limb, without evidence of motor deficit, sensory or involvement to sphincters. Magnetic resonance showed fusion of L2-L3-L4 in the anterior and middle third, with Klippel-Feil Syndrome type 3. Studies report that the majority of diagnoses are incidental. Few cases of patients with Klippel-Feil Syndrome type 3 with lumbar fusion have been reported. An opportune diagnosis is important to correct anomalies that may accompany it and avoid severe complications.
REFERENCES
Moses JT, Williams DM, Rubery PT, Mesfin A. The prevalence of Klippel-Feil syndrome in pediatric patients: analysis of 831 CT scans. J Spine Surg. 2019; 5 (5): 66-71.
Hussain N, Thotakura P, Lichtenbaum RA, Mirrakhimov AE. Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. BMJ Case Rep. 2014; 2014. doi: 10.1136/bcr-2013-201234.
Nouri A, Martin AR, Lange SF, Kotter MRN, Mikulis DJ, Fehlings MG. Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy. World Neurosurg [Internet]. 2017; 100: 531-539. Available from: http://dx.doi.org/10.1016/j.wneu.2017.01.048.
Nouri A, Tetreault L, Zamorano JJ, Mohanty CB, Fehlings MG. Prevalence of Klippel-Feil syndrome in a surgical series of patients with cervical spondylotic myelopathy: analysis of the prospective, multicenter aospine North America study. Global Spine J. 2015; 5 (4): 294-229. doi: 10.1055/s-0035-1546817.
Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A. The prevalence of Klippel-Feil syndrome: a computed tomography-based analysis of 2, 917 patients. Spine Deform. 2018; 6 (4): 448-453. Available from: https://doi.org/10.1016/j.jspd.2017.12.002.
Martínez-Quintana E; Rodríguez-González F. Brief Report Klippel-Feil syndrome and levo-looped transposition of the great arteries. Cardiol Young. 2015; 25: 591-593.
Sirico A, Maruotti GM, Martinelli P, Lanna M, Anfora R, Setaro A et al. Airway management with McGrath Series 5 video laryngoscope in a woman with Klippel-Feil syndrome requiring urgent caesarean section. Int J Obstet Anaesth. 2015; 24 (3): 286-288. Available from: http://dx.doi.org/10.1016/j.ijoa.2015.04.004.
Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. “Clinical triad” findings in pediatric Klippel-Feil patients. Scoliosis Spinal Disord. 2016; 11: 15. Available from: http://dx.doi.org/10.1186/s13013-016-0075-x.
Hsu G, Manabat E, Huffnagle S, Huffnagle HJ. Anesthetic management of a parturient with type III Klippel-Feil syndrome. Int J Obstet Anesth. 2010; 20 (1): 82-85. Available from: http://dx.doi.org/10.1016/j.ijoa.2010.09.004.
Johanson Z, Carr R, Ritchie A. Fusion, gene misexpression and homeotic transformations in vertebral development of the gnathostome stem group (Placodermi). Int J Dev Biol. 2010; 54 (1): 71-80. doi: 10.1387/ijdb.072508zj.
Begum S, Roy T, Sen TG, Gupta I. A rare presentation of os odontoideum with multiple vertebral fusion in type III Klippel-Feil syndrome (KFS): a case report. J Clin Diagnostic Res. 2014; 8 (9): 3-5.
Mottaghi K, Safari F, Sezari P, Gholizadeh N, Nashibi M. Anesthetic management of patients with Klippel-Feil syndrome, a case series. Journal of Cellular & Molecular Anesthesia. 2017; 2 (2): 63-68. doi: https://doi.org/10.22037/jcma.v2i2.15694.
Kerai S, Saxena KN TB. Klippel-Feil syndrome and neuraxial anaesthesia. Indian J Anaesth. 2014; 58 (3): 341-344.
Jovankovičová A1, Jakubíková J, Durovčíková D. A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube. Int J Pediatr Otorhinolaryngol. 2012; 76 (4): 596-600.
Naikmasur VG, Sattur AP, Kirty RN, Thakur AR. Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies. Odontology. 2011; 99 (2): 197-202.
Kada-Venkata MK, Ahmed-Khan J, Tayyab-Qureshi M, Qureshi A KI. Anaesthetic management of a patient with Klippel-Feil syndrome for elective Caesarean section. BJMP. 2009; 2 (3): 54-56.
Patel M, Gupta R, Bajaj N, Tagore V. Klippel-Feil syndrome: a case report. Int J Res Med Sci. 2014; 2 (3): 1197-1199.
Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome - Clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004; 424: 183-190.
Xue X, Shen J, Zhang J, Tian Y, Zhao H, Wang Y et al. Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976). 2014; 39 (23): E1353-1358.
Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. Cervical scoliosis in the Klippel-Feil patient. Spine (Phila Pa 1976). 2011; 36 (23): E1501-508.
Venkata MK, Khan JA, Qureshi QA, Kar I. Anaesthetic management of a patient with Klippel-Feil syndrome for elective caesarean section. BJMP. 2009; 2 (3): 54-56.