Surgical treatment of Jeune syndrome in a child (rare clinical case and review)

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Objective: possibility of surgical treatment of chest deformity in children with Jeune syndrome (analysis of the clinical case), review of literature on Jeune syndrome in children.

Methods: clinical, radiological, laboratory, instrumental, statistical.

Results: Positive outcome of surgical treatment of a 3-year-old patient with severe chest deformity and severe respiratory failure.

Conclusions: Jeune syndrome is a severe disease with a high mortality rate. A multidisciplinary approach is required in the treatment of patients with this pathology. Surgical intervention aimed at reducing the compression of the chest organs and increasing its volume, even in conditions of decompensation, allows you to stop the phenomenon of respiratory failure.

作者简介

Igor Komolkin

St. Petersburg State Research Institute of Phthisiopulmonology; St. Petersburg State Pediatric Medical University

Email: igor_komolkin@mail.ru
ORCID iD: 0000-0002-0021-9008

MD, PhD, Dr. Sci. (Med.)

俄罗斯联邦, Saint Petersburg; Saint Petersburg

Aleksandr Mushkin

St. Petersburg State Research Institute of Phthisiopulmonology

Email: aymushkin@mail.ru
ORCID iD: 0000-0002-1342-3278

MD, PhD, Dr. Sci. (Med.), Professor

俄罗斯联邦, Saint Petersburg

Olga Agranovich

H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery

Email: olga_agranovich@yahoo.com
ORCID iD: 0000-0002-6655-4108

MD, PhD, Dr. Sci. (Med.)

俄罗斯联邦, Pushkin, Saint Petersburg

Ardan Afanasiev

N.N. Priorov National Medical Research Center of Traumatology and Orthopedics

编辑信件的主要联系方式.
Email: afanasevap@cito-priorov.ru
ORCID iD: 0000-0002-5089-2524

MD, PhD, Cand. Sci. (Med.)

俄罗斯联邦, 10 Priorova str., Moscow, 127299

参考

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  2. Barnes ND, Hull D, Symons JS. Thoracic dystrophy. Arch Dis Child. 1969;44(233):11–17. doi: 10.1136/adc.44.233.11
  3. Todd DW, Tinguely SJ, Norberg WJ. A thoracic expansion technique for Jeune’s asphyxiating thoracic dystrophy. J Pediatr Surg. 1986;21(2):161–163. doi: 10.1016/s0022-3468(86)80073-2
  4. Davis JT, Long FR, Adler BH, et al. Lateral thoracic expansion for Jeune syndrome: evidence of rib healing and new bone formation. Ann Thorac Surg. 2004;77(2):445–448. doi: 10.1016/S0003-4975(03)01340-7
  5. Muthialu N, Mussa S, Owens CM, et al. One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome). Eur J Cardiothorac Surg. 2014;46(4):643–647. doi: 10.1093/ejcts/ezu074
  6. Mayer O, Campbell R, Cahill P, Redding G. Thoracic insufficiency syndrome. Curr Probl Pediatr Adolesc Health Care. 2016;46(3):72–97. doi: 10.1016/j.cppeds.2015.11.001
  7. Komolkin IA, Mushkin AYu, Ulrich EV. Congenital malformations of the chest: 3D model, classification and quantification (new approach to tactical systematization of pathology). Meditsinskii al’yans. 2019;7(3):57–65. (In Russ.) doi: 10.36422/2307-6348-2019-7-3-57-65
  8. Oberklaid F, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child. 1977;52(10):758–765. doi: 10.1136/adc.52.10.758
  9. Keppler-Noreuil KM, Adam MP, Welch J, et al. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011;155A(5):1021–1032. doi: 10.1002/ajmg.a.33892
  10. Shaheen R, Schmidts M, Faqeih E, et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015;24(5):1410–1419. doi: 10.1093/hmg/ddu555
  11. Ovsyannikov DY, Stepanova EV, Belyashova MA, Degtyareva EA. Jeune syndrome: case series report. Annals of the Russian Academy of Medical Sciences. 2016;71(1):61–67. (In Russ.) doi: 10.15690/vramn634
  12. de Vries J, Yntema JL, van Die CE, et al. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr. 2010;169(1):77–88. doi: 10.1007/s00431-009-0991-3
  13. Labrune P, Fabre M, Trioche P, et al. Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. Am J Med Genet. 1999;87(4):324–328. doi: 10.1002/(sici)1096-8628(19991203)87:4<324::aid-ajmg8>3.0.co;2-u
  14. Yerian LM, Brady L, Hart J. Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis. 2003;23(2):195–200. doi: 10.1055/s-2003-39950
  15. Tüysüz B, Bariş S, Aksoy F, et al. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: evaluation and classification of 13 patients. Am J Med Genet A. 2009;149A(8):1727–1733. doi: 10.1002/ajmg.a.32962
  16. Imai Y, Kitanishi R, Saiki Y, et al. Distraction osteogenesis of the sternum for thoracic expansion in a severe case of Jeune syndrome: a preliminary report. J Plast Surg Hand Surg. 2016;50(3):180–183. doi: 10.3109/2000656X.2016.1147736

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2. Fig. 1. CT scan of patient M. with Jeune syndrome (type А2S0F1cor, br). Axial section at the top of the deformity: a — before treatment (HCCI = 60.1%); b — sternum is narrow, segmented, and short; ribs are wide and flat with an abnormal structure of the growth zones, and “wine glass” extensions of the anterior areas (shown by the arrow); c — fibrotic atelectases in the lungs (shown by the arrow) in the area of compression by the chest framework of the broncho-pulmonary complex (See the text for the details)

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3. Fig. 2. Calculation of an arbitrary lung volume: a — 3D-MVR in the front-rear projection of the lungs; b — 3D-MVR in lateral projection of the lungs (See the text for the details)

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4. Fig. 3. Axial sections of CT scans (a) and a 3D-CAT reconstruction (b) after the I stage of surgical treatment: a-HCCI = 71.8%: the right hemithorax has the corrected shape (the position of one of the rib plates is marked with an arrow); c - 3D multi-volume lung reconstruction after the I stage of surgical treatment (See the text for the details).

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5. Fig. 4. Axial sections of CT scan (a), 3D-CAT scan (b), frontal chest 3D-CAT (c), and lung 3D-MVR (d) after the II stage of the surgery (See the text for the details)

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