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

Abstract

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.

Keywords

Jeune syndrome / thoracoasphic dystrophy / children / surgical treatment (thoracoplasty)

References

[1] Jeune M, Béraud C, Carron R. Asphyxiating thoracic dystrophy with familial characteristics. Arch Fr Pediatr. 1955;12(8):886–891. (In French)

[2] Jeune M., Béraud C., Carron R. Asphyxiating thoracic dystrophy with familial characteristics // Arch Fr Pediatr. 1955. Vol. 12, N8. P. 886–891. (In French)

[3] Barnes ND, Hull D, Symons JS. Thoracic dystrophy. Arch Dis Child. 1969;44(233):11–17. doi: 10.1136/adc.44.233.11

[4] Barnes N.D., Hull D., Symons J.S. Thoracic dystrophy // Arch Dis Child. 1969. Vol. 44(233):11–17. doi: 10.1136/adc.44.233.11

[5] 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

[6] Todd D.W., Tinguely S.J., Norberg W.J. A thoracic expansion technique for Jeune’s asphyxiating thoracic dystrophy // J Pediatr Surg. 1986. Vol. 21, N2. P. 161–163. doi: 10.1016/s0022-3468(86)80073-2

[7] 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

[8] Davis J.T., Long F.R., Adler B.H., et al. Lateral thoracic expansion for Jeune syndrome: evidence of rib healing and new bone formation // Ann Thorac Surg. 2004. Vol. 77, N2):445–448. doi: 10.1016/S0003-4975(03)01340-7

[9] 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

[10] Muthialu N., Mussa S., Owens C.M., et al. One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome) // Eur J Cardiothorac Surg. 2014. Vol. 46, N4. 643–647. doi: 10.1093/ejcts/ezu074

[11] 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

[12] Mayer O., Campbell R., Cahill P., Redding G. Thoracic insufficiency syndrome // Curr Probl Pediatr Adolesc Health Care. 2016. Vol. 46, N3. P. 72–97. doi: 10.1016/j.cppeds.2015.11.001

[13] 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

[14] Комолкин И.А., Мушкин А.Ю., Ульрих Э.В. Врожденные пороки развития грудной клетки: трехплоскостная модель, классификация и количественная оценка (новый подход к тактической систематизации патологии) // Медицинский альянс. 2019. Vol. 7, N3. P. 57–65. doi: 10.36422/2307-6348-2019-7-3-57-65

[15] 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

[16] Oberklaid F., Danks D.M., Mayne V., Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients // Arch Dis Child. 1977. Vol. 52, N10. P. 758–765. doi: 10.1136/adc.52.10.758

[17] 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

[18] Keppler-Noreuil K.M., Adam M.P., 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. Vol. 155A, N5. P. 1021–1032. doi: 10.1002/ajmg.a.33892

[19] 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

[20] 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. Vol. 24, N5. P. 1410–1419. doi: 10.1093/hmg/ddu555

[21] 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

[22] Овсянников Д.Ю., Степанова Е.В., Беляшова М.А., Дегтярёва Е.А. Синдром Жёна: описание серии наблюдений // Вестник Российской академии медицинских наук. 2016. Vol. 71, N1. P. 61–67. doi: 10.15690/vramn634

[23] 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

[24] de Vries J., Yntema J.L., van Die C.E., et al. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol // Eur J Pediatr. 2010. Vol. 169, N1. P. 77–88. doi: 10.1007/s00431-009-0991-3

[25] 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

[26] 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. Vol. 87, N4. P. 324–328. doi: 10.1002/(sici)1096-8628(19991203)87:4<324::aid-ajmg8>3.0.co;2-u

[27] 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

[28] Yerian L.M., Brady L., Hart J. Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy) // Semin Liver Dis. 2003. Vol. 23, N2. P. 195–200. doi: 10.1055/s-2003-39950

[29] 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

[30] 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. Vol. 149A, N8. P. 1727–1733. doi: 10.1002/ajmg.a.32962

[31] 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

[32] 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. Vol. 50, N3. P. 180–183. doi: 10.3109/2000656X.2016.1147736

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