CASE REPORT
A focused surgical case report: Managing scoliosis in Wolf–Hirschhorn syndrome
 
More details
Hide details
1
Department of Neurosurgery, Polish-Mother’s Memorial Hospital Research Institute, Lodz, Poland
 
2
Department of Medical Rehabilitation, Faculty of Health Sciences, Medical University of Lodz, Poland
 
3
Department of Gastroenterology, Allergology and Paediatrics, Polish-Mother’s Memorial Hospital Research Institute, Lodz, Poland
 
4
Department of Management and Logistics in Healthcare, Medical University of Lodz, Poland
 
5
Collegium of Management, WSB Merito University of Warsaw, Poland
 
These authors had equal contribution to this work
 
 
Submission date: 2023-10-19
 
 
Final revision date: 2023-12-22
 
 
Acceptance date: 2023-12-22
 
 
Online publication date: 2024-02-27
 
 
Corresponding author
Agnieszka Zawadzka-Fabijan   

Department of Medical Rehabilitation, Pomorska 251, 93-338 Łódź, Poland. Tel.: +4842 271 13 61
 
 
Pol. Ann. Med. 2024;31(1):34-40
 
KEYWORDS
TOPICS
ABSTRACT
Introduction:
Wolf–Hirschhorn syndrome (WHS) is a genetic disorder from a chromosomal deletion on chromosome 4, leading to systemic pathologies including spinal deformities like scoliosis.

Aim:
The objective of this publication is to present a case of scoliosis treatment in a patient with WHS, where the primary goal was to halt the progression of the curvature and achieve the most effective correction of the deformity, despite the guardians' refusal to extend the stabilization system to the pelvis.

Case study:
Preoperative radiographs revealed a single-curve scoliosis of 64°, as measured by the Cobb method between Th11 and L5. Prior to the scheduled procedure, a magnetic resonance imaging examination of the spinal column was conducted to potentially visualize any spinal cord pathology. A corrective procedure, posterior spinal fusion, was performed using cobalt-chrome rods. A postoperative posturographic control examination was conducted, and follow-up outpatient visits were recommended.

Results and discussion:
Despite not implementing the stabilization system to the pelvis, a reduction in deformation by 22° was achieved, resulting in 42° measured between Th11 and L5. In a follow-up examination 18 months post-operation, the degree of deformity remained stable, maintaining the curvature angle of 42° measured between Th11 and L5.

Conclusions:
Treating scoliosis in patients with WHS requires a tailored approach, considering the specifics of their condition and utilizing optimal spinal stabilization methods. A multidisciplinary approach, integrating various therapeutic modalities, is crucial for enhancing the quality of life of WHS patients.

ACKNOWLEDGEMENTS
Many thanks to Agnieszka Strzała for the linguistic proofreading and Robert Fabijan for help in preparing the figures.
FUNDING
This research was supported by the project ‘InterDoktorMen—Building new quality and effectiveness of education in the formula of doctoral studies for healthcare managers at the Health Sciences Faculty at the Medical University in Lodz’ (POWR.03.02.00-00-1027/16-00) and co-financed by the European Union: resources from the European Social Fund as a part of the Operational Pro-gramme Knowledge Education Development.
CONFLICT OF INTEREST
The authors declare no conflict of interest.
REFERENCES (25)
1.
Rauch A, Schellmoser S, Kraus C, et al. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet. 2001;99(4):338–342. https://doi.org/10.1002/ajmg.1....
 
2.
Hannes F, Van Houdt J, Quarrell OW, et al. Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions. Hum Mutat. 2010;31(12):1343–1351. https://doi.org/10.1002/humu.2....
 
3.
Blanco Lago R, da Silva Mori X, Cristina BF, et al. Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome [in Spanish]. Rev Esp Salud Publica. 2022;96:e202206045.
 
4.
Battaglia A, Lortz A, Carey JC. Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals. Am J Med Genet A. 2021;185(6):1794–1802. https://doi.org/10.1002/ajmg.a....
 
5.
Paradowska-Stolarz AM. Wolf-Hirschhorn syndrome (WHS) – literature review on the features of the syndrome. Adv Clin Exp Med. 2014;23(3):485–489. https://doi.org/10.17219/acem/....
 
6.
Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Rao KW. Molecular characterisation of chromosome 4p deletions resulting in Wolf–Hirschhorn syndrome. J Med Genet. 1994;31(2):10–107. https://doi.org/10.1136/jmg.31....
 
7.
Keenan BE, Izatt MT, Askin GN, Labrom RD, Pearcy MJ, Adam CJ. Supine to standing Cobb angle change in idiopathic scoliosis: the effect of endplate pre-selection. Scoliosis. 2014;9:16. https://doi.org/10.1186/1748-7....
 
8.
Chou SH, Li WW, Lu CC, et al. Hybrid versus total sublaminar wires in patients with spinal muscular atrophy undergoing scoliosis surgery. BMC Musculoskelet Disord. 2021;22(1):867. https://doi.org/10.1186/s12891....
 
9.
Rocos B, Zeller R. Correcting scoliosis in Rett syndrome. Cureus. 2021;13(6):e15411. https://doi.org/10.7759/cureus....
 
10.
Luhmann S, Zaaroor-Regev D, Upasani VV, Shufflebarger H. The natural history of curve behavior after brace removal in adolescent idiopathic scoliosis: a literature review. Spine Deform. 2023;11:567–578. https://doi.org/10.1007/s43390....
 
11.
Maruyama T, Takeshita K. Surgical treatment of scoliosis: a review of techniques currently applied. Scoliosis. 2008;3:6. https://doi.org/10.1186/1748-7....
 
12.
Grabala P, Grabala M, Kossakowski D, Larysz D. Three-dimensional correction for idiopathic scoliosis with posterior spinal fusion and the risk of neurological complications. Pol Ann Med. 2016;23(2):97–101. https://doi.org/10.1016/j.poam....
 
13.
Adolescent idiopathic scoliosis. AO Surgery Reference. https://surgeryreference.aofou... Accessed: September 19, 2023.
 
14.
Trobisch PD, Ducoffe AR, Lonner BS, Errico TJ. Choosing fusion levels in adolescent idiopathic scoliosis. J Am Acad Orthop Surg. 2013;21(9):519–528. https://doi.org/10.5435/jaaos-....
 
15.
Akazawa T, Kotani T, Sakuma T, et al. Spinal fusion on adolescent idiopathic scoliosis patients with the level of L4 or lower can increase lumbar disc degeneration with sagittal imbalance 35 years after surgery. Spine Surg Relat Res. 2017;1(2):72–77. https://doi.org/10.22603/ssrr.....
 
16.
Cho KJ, Kim YT, Shin SH, Suk SI. Surgical treatment of adult degenerative scoliosis. Asian Spine J. 2014;8(3):371–381. https://doi.org/10.4184/asj.20....
 
17.
Hwang SW, Samdani AF, Clements III DH. 11 Selection of Fusion Levels. https://musculoskeletalkey.com.... Accessed: December 16, 2023.
 
18.
Yang JH, Suh SW, Chang DG. Comparison of surgical correction rates between titanium and cobalt-chrome-alloy as rod materials in adolescent idiopathic scoliosis. Sci Rep. 2020;10(1):10053. https://doi.org/10.1038/s41598....
 
19.
Violas P, Bryand C, Gomes C, Sauleau P, Lucas G; Orthopedics, Traumatology Society of Western France (SOO). Correction of thoracic adolescent idiopathic scoliosis via a direct convex rod manoeuvre. Orthop Traumatol Surg Res. 2019;105(6):1171–1174. https://doi.org/10.1016/j.otsr....
 
20.
Battaglia A, Carey JC, South ST. Wolf-Hirschhorn syndrome: A review and update. Am J Med Genet C Semin Med Genet. 2015;169(3):216–223. https://doi.org/10.1002/ajmg.c....
 
21.
Thomson P. Wolf-Hirschhorn syndrome. Review of the literature and three case studies. J Am Podiatr Med Assoc. 1998;88(4):192–197. https://doi.org/10.7547/875073....
 
22.
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics. 1999;103(4 Pt 1):830–836. https://doi.org/10.1542/peds.1....
 
23.
Xing Y, Holder JL Jr, Liu Y, et al. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018;298(2):289–295. https://doi.org/10.1007/s00404....
 
24.
Zollino M, Murdolo M, Marangi G, et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. 2008;148C(4):257–269. doi:10.1002/ajmg.c.30190.
 
25.
Hong YM, Cho DH, Kim JK. Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report. Medicine (Baltimore). 2019;98(50):e18268. https://doi.org/10.1097/md.000....
 
Journals System - logo
Scroll to top