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Siddiqui, F, Ashraf, M T, Khan, M Kh, Admani, B, Sam, S, Imran, M, Hameed, M. (1402). A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome. سامانه مدیریت نشریات علمی, 78(6), 1868-1872. doi: 10.32592/ARI.2023.78.6.1868
F Siddiqui; M T Ashraf; M Kh Khan; B Admani; S J Sam; M Imran; M Hameed. "A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome". سامانه مدیریت نشریات علمی, 78, 6, 1402, 1868-1872. doi: 10.32592/ARI.2023.78.6.1868
Siddiqui, F, Ashraf, M T, Khan, M Kh, Admani, B, Sam, S, Imran, M, Hameed, M. (1402). 'A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome', سامانه مدیریت نشریات علمی, 78(6), pp. 1868-1872. doi: 10.32592/ARI.2023.78.6.1868
Siddiqui, F, Ashraf, M T, Khan, M Kh, Admani, B, Sam, S, Imran, M, Hameed, M. A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome. سامانه مدیریت نشریات علمی, 1402; 78(6): 1868-1872. doi: 10.32592/ARI.2023.78.6.1868

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome

Archives of Razi Institute
مقاله 24، دوره 78، شماره 6، بهمن و اسفند 2023، صفحه 1868-1872    اصل مقاله (177.92 K)
نوع مقاله: Case Study
شناسه دیجیتال (DOI): 10.32592/ARI.2023.78.6.1868
نویسندگان
F Siddiqui1؛ M T Ashraf2؛ M Kh Khan* 2؛ B Admani2؛ S J Sam2؛ M Imran3؛ M Hameed1
1Department of Radiology, National Institute of Child Health, Karachi, Pakistan.
2Department of Internal Medicine, Dow University of Health Sciences, Karachi, Pakistan.
3Department of Internal Medicine, Jinnah Postgraduate Medical Centre, Karachi, Pakistan.
چکیده
Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. The syndrome presents diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. The severity of KFS can vary significantly, and treatment primarily focuses on symptom management and preventing complications such as scoliosis or spinal cord compression. Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 malformation, a cranial anomaly affecting the brainstem, can coincide anatomically with KFS. In this case report, we present the case of a 9-year-old patient who sought medical attention due to persistent, unchanging neck pain. The patient's medical history was notable for developmental delays and cervical restraint observed during physical examination. Magnetic resonance imaging (MRI) findings revealed hydrocephalus and brainstem descent, indicating the presence of Chiari 1 malformation. Comprehensive MRI and CT scans were performed, and a management plan was formulated, primarily involving cranial surgery and physiotherapy. Implementation of the treatment approach resulted in significant improvement in the patient's symptoms. This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with KFS who present with persistent neck pain. Early detection and appropriate management of both conditions are crucial for achieving favorable outcomes and enhancing the quality of life for affected individuals. Understanding the complex interplay between KFS and Chiari 1 malformation is essential for providing comprehensive care and tailored treatment strategies. Further research is warranted to elucidate the underlying mechanisms linking these two conditions and to explore optimal management approaches for patients with dual pathology. By reporting this case, we contribute to the existing literature and increase awareness among healthcare professionals regarding the potential coexistence of KFS and Chiari 1 malformation. Continued efforts in identifying associated anomalies and optimizing therapeutic interventions will aid in improving patient outcomes and ensuring optimal care for individuals affected by these conditions.
کلیدواژه‌ها
Brainstem descent؛ Cervical spine abnormalities؛ Chiari 1 malformation؛ Klippel-Feil Syndrome
مراجع
References
1. Klippel AF. Un cas d'absence des vertébres cervicales cage
thoracique remontant jusqu'a la base du crâne. Bulletins et
Mémoires de la Société d'anthropologie de Paris.
1912;3(1):101-2.
2. 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
deformity. 2018 Jul 1;6(4):448-53.
3. Samartzis D, Herman J, Lubicky JP, Shen FH.
Classification of congenitally fused cervical patterns in
Klippel-Feil patients: epidemiology and role in the
development of cervical spine-related symptoms. Spine.
2006 Oct 1;31(21):E798-804.
4. Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH.
“Clinical triad” findings in pediatric Klippel-Feil patients.
Scoliosis and spinal disorders. 2016 Dec;11(1):1-9.
5. Litrenta J, Bi AS, Dryer JW. Klippel-Feil Syndrome:
Pathogenesis, Diagnosis, and Management. JAAOS - J Am
Acad Orthop Surg. 2021;29(22):951. doi:10.5435/JAAOSD-21-00190
6. Jalil J, Shafique M, Dar NR. Klippel–Feil syndrome with
situs inversus: a rare association. J Coll Physicians Surg
Pak. 2008 Apr 1;18(4):248-9.
7. Alam M, Haq AU, Shah M, Haqqani U, Ullah S. KlippelFeil Syndrome With Auxiliary Anterior Cervical
Meningomyelocele and Thoracic Syringomyelia: A Case
Report. Spine (Phila Pa 1976). 2020;45(6):E342-E345.
doi:10.1097/BRS.0000000000002804
8. Hudson EW, Makis W. Klippel-Feil Syndrome With Spinal
Dysraphism: Diastematomyelia on 18F-NaF Bone PET, CT,
and MRI Imaging. Clin Nucl Med. 2016;41(5):405-406.
doi:10.1097/RLU.0000000000001123
9. Martirosyan Z, Malhotra S. Central sleep apnea and Chiari 1
malformation in a pediatric patient with Klippel-Feil
syndrome. J Clin Sleep Med JCSM Off Publ Am Acad Sleep
Med. 2020;16(10):1805-1807. doi:10.5664/jcsm.8650
10. Shah TH, Badve MS, Olajide KO, Skorupan HM, Waters JH,
Vallejo MC. Dexmedetomidine for an awake fiber-optic
intubation of a parturient with Klippel-Feil syndrome, Type I
Arnold Chiari malformation and status post released tethered
spinal cord presenting for repeat cesarean section. Clin Pract.
2011;1(3):e57. Published 2011 Jul 1. doi:10.4081/cp.2011.e57
11. Kotil K, Yavasca P, Bilge T. Postoperative Massive
Macroglossia in Klippel–Feil Syndrome After Posterior
Occipitocervical Fixation Surgery in the Sitting Position.
Clin Spine Surg. 2006;19(3):226. doi:10.1097/01.bsd.0000
194054.79924.bd
12. Zwn N, Sm AG, Hs AA. Klippel-Feil Syndrome with
Meningiocele and Chiari malformation-A Case Report. J
Pediatr Perinatol Child Health. 2019;3(1):40-43.
13. Clarke RA, Catalan G, Diwan AD, Kearsley JH.
Heterogeneity in Klippel-Feil syndrome: a new
classification. Pediatr Radiol. 1998;28(12):967-974.
doi:10.1007/s002470050511
14. Pavlova OM, Ryabykh SO, Burcev AV, Gubin AV.
Anomaly-Related Pathologic Atlantoaxial Displacement in
Pediatric Patients. World Neurosurg. 2018;114:e532-e545.
doi:10.1016/j.wneu.2018.03.031
15. Hachem LD, Mathieu F, Lamberti-Pasculli M, et al. Klippel
Feil Syndrome: Clinical Phenotypes Associated With Surgical
Treatment. Spine (Phila Pa 1976). 2020;45(11):718-726.
doi:10.1097/BRS.0000000000003368
16. 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):294-299. doi:10.
1055/s-0035-1546817
17. Ulmer JL, Elster AD, Ginsberg LE, Williams DW 3rd.
Klippel-Feil syndrome: CT and MR of acquired and
congenital abnormalities of cervical spine and cord. J
Comput Assist Tomogr. 1993;17(2):215-224.
18. Zhou PL, Poorman GW, Wang C. Klippel-Feil: A
constellation of diagnoses, a contemporary presentation,
and recent national trends. J Craniovertebr Junction Spine.
2019;10(3):133-138. doi:10.4103/jcvjs.JCVJS_65_19
19. Pargas C, Santana A, Czoch WL, Rogers KJ, Mackenzie WG.
Sprengel Deformity in Biological Sisters. J Am Acad Orthop
Surg Glob Res Rev. 2020;4(4):e19.00120. Published 2020
Apr 2. doi:10.5435/JAAOSGlobal-D-19-00120
20. Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome.
In: StatPearls. Treasure Island (FL): StatPearls Publishing;
September 26, 2022.
21. Theiss SM, Smith MD, Winter RB. The Long-Term
Follow-Up of Patients With Klippel-Feil Syndrome and
Congenital Scoliosis. Spine. 1997;22(11):1219

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