Jeune Syndrome: Case Series Report

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Abstract


Jeune syndrome (synonym: asphyxiating thoracic dystrophy) is a rare genetically heterogeneous autosomal recessive disease, characterized by the development of generalized osteochondrodysplasia, anomalies of skeletal system with multi-organ involvement. This syndrome is based on mutations of the IFT80, DYNC2H1, WDR19, TTC21B genes localized in the locus of chromosomes 3q25.33, 11q22.3, 4p14, 2q24.3 respectively and mutation in the locus of chromosome 15q13 too. These genes play an important role in functioning of cilia in the mammalian body. These organelles participate in the development of the skeletal and hepatobiliary system, nephrons, retina, and other structures of the body. Thurs Jeune syndrome belongs to the ciliopathies. The article presents modern literature findings on genetics, pathogenesis, its clinical, X-ray presentations and CT patterns, diagnosis and treatment of this rare disease. The article also presents the first Russian case series including 7 patients with this disease. Combinations of such symptoms as narrow bell-shaped thorax, variable limb shortness, respiratory failure, including oxygen dependence, recurrent respiratory infections, and motor development delay in observed patients helped to diagnose Jeune syndrome in all cases. 


D. Yu. Ovsyannikov

Peoples’ Friendship University of Russia, Moscow

Author for correspondence.
Email: mdovsyannikov@yahoo.com

Russian Federation MD, PhD

E. V. Stepanova

Peoples’ Friendship University of Russia, Moscow

Email: katya_step@mail.ru

Russian Federation student

M. A. Belyashova

Peoples’ Friendship University of Russia, Moscow

Email: belyashova@gmail.com

Russian Federation MD, internship

E. A. Degtyareva

Peoples’ Friendship University of Russia, Moscow;
Pediatric Infectious Diseases Hospital No 6, Moscow

Email: dib6@yandex.ru

Russian Federation MD, PhD, Professor

  1. Jeune M, Béraud C, Carron R. Dystrophie thoracique asphyxiante de caractère familial. Arch Fr Pediatr. 1955;12:886–891.
  2. Phillips JD, Van Aalst JA. Jeune’s syndrome (asphyxiating thoracic dystrophy): congenital and acquired. Semin Pediatr Surg. 2008;17(3):167−172. doi: 10.1053/j.sempedsurg.2008.03.006.
  3. Morgan NV, Bacchelli C, Gissen P, et al. A locus for asphyxiating thoracic dystrophy, ATD maps to chromosome 15q13. J Med Genet. 2003;40(6):431–435. doi: 10.1136/jmg.40.6.431.
  4. Beales PL, Bland E, Tobin JL, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007;39(6):727–729. doi: 10.1038/ng2038.
  5. Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009;84:706–71. doi: 10.1016/j.ajhg.2009.04.016.
  6. Jones KL. Smith’s Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: Elsevier Saunders; 2006. Р. 450–452.
  7. Badano JL, Mitsuma N, Beale P, et al. The ciliopathies: An Emerging Class of Human Genetic Disorders. Annu Rev Genomics Hum Genet. 2006;7:125–148. doi: 10.1146/annurev.genom.7.080505.115610.
  8. Дегтярева Е.А., Овсянников Д.Ю., Зайцева Н.О., Шокин А.А. Легочная гипертензия и легочное сердце у детей с бронхолегочной дисплазией: факторы риска, диагностика, возможности терапии и профилактики // Педиатрия. Журнал им Г.Н.Сперанского. – 2013. – Т.92. – №5. – С. 32–39. [Ovsyannikov DY, Degtyareva EA, Zaitseva NO, Shokin AA. Legochnaya gipertenziya i legochnoe serdtse u detei s bronkholegochnoi displaziei: faktory riska, diagnostika, vozmozhnosti terapii i profilaktiki. Pediatrija. 2013;92(5):32–39. (In Russ).]
  9. Drera B, Ferrari D, Cavalli P, et al. A case of neonatal Jeune syndrome expanding the phenotype. Clin Case Rep. 2014;2(4):156–158. doi: 10.1002/ccr3.85.
  10. Barnes ND, Hull D, Simons JS. Thoracic dystrophy. Arch Dis Child. 1969;44(233):11–17. doi: 10.1136/adc.44.233.11.
  11. Cortina H, Beltran J, Olague R, et al. The wide spectrum of the asphyxiating thoracic dysplasia. Pediatr Radiol. 1979;8(2):93–99. doi: 10.1007/bf00973998.
  12. Friedman JM, Kaplan HG, Hall JG. The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. Am J Med. 1975;59(6):857–862. doi: 10.1016/0002-9343(75)90490-8.
  13. Kajantie E, Andersson S, Kaitila I. Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care. J Pediatr. 2001;139(1):130–133. doi: 10.1067/mpd.2001.114701.
  14. Pirnar T, Neuhauser EB. Asphyxiating thoracic dystrophy of the newborn. Am J Roentgenol Radium Ther Nucl Med. 1966;98(2):358–364. doi: 10.2214/ajr.98.2.358.
  15. Razzi A, Rosso C, Durand P. Anatomopathological contribution to asphyxiating thoracic dystrophy of the unweaned child (Jeune’s disease) and considerations on the therapeutic usefulness of a surgical operation on the ribs. Panminerva Med. 1966;8(11):444–449.
  16. Tuysuz B, Baris 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.
  17. Hennekam RC, Beemer FM, Gerards LJ, et al. Thoracic pelvic phalangeal dystrophy (Jeune’s syndroome). Tijdschr Kindergeneeskd. 1983;51(3):95–100.
  18. Langer LO. Thoracic–pelvic–phalangeal dystrophy: Asphyxiating thoracic dystrophy of the newborn, infantile thoracic dystrophy. Radiology. 1968;91(3):447–456. doi: 10.1148/91.3.447.
  19. Ferkol T. Primary ciliary dyskinesia (Immotile cilia syndrome). In: Kliegman RM, Stanton BF, St. Geme JW et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011. Р. 1497e2–1497e6.
  20. Ochs M, O’Brodovich H. The structural and physiologic basis for respiratory disease. In: Wilmott RW, Boat TF, Bush A, et al. Kendig & Chernick’s Disorders of the Respiratory Tract in Children. 8th ed. Philadelphia, PA: Elsevier Saunders; 2012. Р. 35–74.
  21. Boas SR. Skeletal diseases influencing pulmonary function. In: Kliegman RM, Stanton BF, St. Geme JW et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011. Р. 1516–1518.
  22. 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.
  23. Chen H, Medscape Reference. Genetics of asphyxiating thoracic dystrophy (Jeune syndrome). Available from: http://emedicine.medscape.com/article/945537-overview (accessed: 22.07.2013).
  24. Paladini D, Volpe P. Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators. 2007. Р. 286–287.
  25. Lehman AM, Eydoux P, Doherty D, et al. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A. 2010;152A(6):1411–1419. doi: 10.1002/ajmg.a.33416.
  26. Edelson PJ, Spackman TJ, Belliveau RE, et al. A renal lesion in asphyxiating thoracic dysplasia. Birth Defects Orig Artic Ser. 1974;10(4):51–56.
  27. Giorgi PL, Gabrielli O, Bonifazi V, et al. Mild form of Jeune syndrome in two sisters. Am J Med Genet. 1990;35:280–282. doi: 10.1002/ajmg.1320350227.
  28. Donaldson MDC, Warner AA, Trompeter RS, et al. Familial juvenile nephronophthisis, Jeune’s syndrome, and associated disorders. Arch Dis Child. 1985;60:426–434. doi: 10.1136/adc.60.5.426.
  29. Özçay F, Derbent M, Demirhan B, et al. A family with Jeune syndrome. Pediatr Nephrol. 2001;16(8):623–626. doi: 10.1007/s004670100627.
  30. Shah KJ. Renal lesion in Jeune’s syndrome. Br J Radiol. 1980;53:432–436. doi: 10.1259/0007-1285-53-629-432.
  31. 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.
  32. Russo P. Liver including tumors, gallbladder, and biliary tree. In: Gilbert-Barness E. Potter’s Pathology of the Fetus, Infant, and Child. 2nd ed. Philadelphia, PA: Mosby Elsevier; 2007. Р. 1207–1280.
  33. Reddy SN, Seth BA, Colaco P. Jeune syndrome with neonatal cholestasis. Indian J Pediatr. 2011;78(9):1151–1153. doi: 10.1007/s12098-011-0392-2.
  34. Keogh SJ, McKee S, Smithson SF, et al. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). BMC Pediatr. 2012;12:48. doi: 10.1186/1471-2431-12-48.
  35. Jeune syndrome. The portal for rare diseases and orphan drugs. Available from: http://www.orpha.net/consor/cgibin/Disease_ Search.php?lng=EN&data_id=283&Disease_Disease_Search_diseaseGroup=Jeune-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Jeune-syndrome&title=Jeune-syndrome&search=Disease_Search_Simple (accessed: 12.09.2015).
  36. 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.
  37. Hall T, Bush A, Fell J, et al. Ciliopathy spectrum expanded. Jeune syndrome associated with foregut dysmotility and malrotation. Pediatr Pulmonol. 2009;44(2):198–201. doi: 10.1002/ppul.20960.
  38. Oberklaid R, Danks DM, Mayne V, et al. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child. 1977;52:758–765. doi: 10.1136/adc.52.10.758.

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