A CASE OF A RARE COMBINATION OF KLIPPEL-FEIL SYNDROME AND SPRENGEL DISEASE IN A CHILD
DOI:
https://doi.org/10.11603/1811-2471.2025.v.i1.15266Keywords:
heredity, syndrome, torticollis, scoliosis, atrophy, vertebrae, malformationAbstract
SUMMARY. Hereditary diseases today are an important medical and social problem. Despite the achievements of modern science, timely diagnosis, treatment and prevention, they continue to be studied by clinicians of various profiles. Particular attention and great interest are caused by rare hereditary diseases that are not always recognized and treated in time, which leads to a significant decrease in the quality of life of children and the progression of the disease. Understanding the mechanisms of disease development and the features of the clinical course will help practitioners outline the main stages of adequate therapy and rehabilitation in order to minimize pathological changes in the body.
The aim – to bring to the attention of practitioners the main clinical signs of a rare hereditary disease (Klippel-Feil syndrome) for the purpose of early diagnosis and treatment of this disease; and to focus on the versatility of pathological changes in this disease, which requires multidisciplinary screening by various specialists.
Material and Methods. A 13-year-old boy, K., who was undergoing inpatient treatment at the Ternopil Regional Children's Clinical Hospital of the Ternopil Regional Council, was examined. A comprehensive examination was carried out: X-ray (standard equipment); computed tomography (PHILIPS Brilliance CT 64). Inpatient and outpatient documentation was carefully studied. The obtained data were compared with the results of studies by other scientists.
Results. As a result of a comprehensive examination, the child was diagnosed with a rare hereditary pathology – Klippel-Feil syndrome based on the clinical triad: 1) fixed incorrect head position; 2) pronounced shortening of the neck; 3) low limit of hair growth on the neck. CT scan of the cervical spine diagnosed a triad of signs: 1) a decrease in the number of cervical vertebrae; 2) massive bony adhesions of several vertebrae (concrescence); 3) multiple bone deformities of the vertebral bodies. On the basis of the clinical triad, Sprengel's disease was also detected: 1. Pronounced asymmetry of the neck contours. 2. Restriction of head movements. 3. High location of the scapula (6 cm higher than the opposite scapula). Radiological triad: 1. High standing of the scapula. 2. Rotation of the scapula around the sagittal axis. 3. Reduction in its size. Neurological complications were accompanied by atrophy of the muscles of the left arm, restriction of movement in the shoulder joint, minor disorders of the sensitivity of the fingers of the hand due to compression radiculitis of the cervical roots.
Conclusion. Klippel-Feil syndrome and Sprengel's disease are rare hereditary diseases characterized by gross deformities of the spine, shoulder girdle, causing functional and neurological disorders, reducing the quality of life of the child, which, as a rule, cannot be corrected.
References
Harvey E, Bernstein M, Desy N, Saran N. et al. Sprengel Deformity: Pathogenesis and Management. Journal of the American Academy of Orthopedic Surgeons. 2012; 20(3): 177-186. DOI: 10.5435/jAAOS-20-03-177. DOI: https://doi.org/10.5435/JAAOS-20-03-177
Hefti F. Pediatric Orthopedics in Practice. R. Hinchliffe trasl. Lorrach. 2007.
Clarke R, Fang Z, Murrell D. et al. GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech. Genes (Basel). 2021; 12(9): 1354. DOI: 10.3390/genes12091354. DOI: https://doi.org/10.3390/genes12091354
Hoggkinson T, Gilbert T, Pandya N. Regenerative Response of Degenerate Human Nucleus Cells to GDF6 Stimulation. Int. J. Mol. Sci. 2024; 21(19): 7143. DOI: 10. 3390/ijms21197143. DOI: https://doi.org/10.3390/ijms21197143
Mohamed J, Faqeih E, Alshammari M. et al. Mutations in MEOX1, encoding mesenchyme homcobox 1, cause Klippel-Feil anomaly. Am. Y. Hum. Genet. 2013; 92(1): 157-61. DOI: 10.1016/j.ajng.2012.11.016. DOI: https://doi.org/10.1016/j.ajhg.2012.11.016
Bayrakli F, Guclu B, Yalicier H. et al. Mutation in MEOX1 gene causes a Recessive Klippel-Feil syndrome subtype. BMC Genet. 2013; 14: 95. DOI: 10.1186/1471-2156-14-95. DOI: https://doi.org/10.1186/1471-2156-14-95
Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relal Res. 2004; (424): 183-90. DOI: https://doi.org/10.1097/01.blo.0000130267.49895.20
Holka HH, Buryanov OA, Klymovytsky VN. Traumatolohiya ta ortopediya: pidruchnyk dlya stud. vyshchych navch. zakladiv [ Traumatology and orthopedics: textbook for students. Higher edication institution] Vinnytsia: New Book. 2014. 416. Ukrainian.
Lampkopoulou-Adamidou K, Athanassacopoulos M, Karampinas P. et al. Congenital variations of the upper cervical spine and their importance in preoperative diagnosis. A case Report and a review of the literature. Eur. J. Orthop. Surg. Traumatol. 2013; Suppl 1: 101-5. DOI: 10.1007/s00590-013-1216-z. DOI: https://doi.org/10.1007/s00590-013-1216-z
Markdante KD, Kligman RM. Osnovy pediatriyi za Nelsonom u 2-kh tomakh. Pereclad 8-ho anhliys’kogo vydannya – Medytsyna [Fundamentals of pediatrics according to Nelson in 2 volumes. Translation of the 8th English edition – Medicine]. 2019. 378 р. Ukrainian.
Warwick D, Roderick Dunn R, Melikyan E, Vadher J. Hand Surgery. Oxford specialist handbooks in surgery. Oxford University Press. 2009. 689 p. DOI: https://doi.org/10.1093/med/9780199227235.001.0001
Protsaylo MD. Ridkisnyi vypadok vysokoho stoainnia lopatky [A rare case of congenital high standing scapula]. Bulletin of Scientific Research. 2016; 4: 45. DOI: 10.11603/2415-8798.2016.4.7143. Ukrainian. DOI: https://doi.org/10.11603/2415-8798.2016.4.7143
Frikha R. Klippel – Feil syndrome: a review of the literature. Clin Dysmorhyol. 2020; 29(1): 35-37. DOI: 10.1097/ MCD0000000000000301. DOI: https://doi.org/10.1097/MCD.0000000000000301
Protsailo MD, Leontieva YuA, Slyusar NYa, Dzhyvak VG. et al. Syndrom Polanda: klinichnuiy vypadok. [Poland syndrome: a case report]. Bukovina Medical Bulletin. 2024; 1:117-122. DOI: 10.24061/2413-0737.28.1.109. 2024.19. Ukrainian. DOI: https://doi.org/10.24061/2413-0737.28.1.109.2024.19
Dzhivak VG, Protsaylo MD, Kucher SV. Syndrom Polanda: prychyny, diahnostyka ta likuvannya. [Poland syndrome: causes, diagnostics and treatment]. Perspectives and innovations of science (series "Pedagogy", series "Psychology", series "Medicine"). 2024; 2:911-928. DOI: 10.52058/ 2786-4952-2024-2(36)-911-928. [in Ukrainian].
