A case of Asphyxiated Thoracic Dystrophy (Jeune Syndrome) diagnosed in neonatal period

Abstract

Jeune Syndrome is a rare autosomal recessive inherited skeletal chondrodystrophy. Patients usually die of respiratory failure during early infancy. The disease has a wide clinical picture including renal dysplasia, hepatic and pancreatic fibrosis. Here, we present a case of Jeune Syndrome diagnosed by narrowing of thoracic anterior posterior and transverse diameter and flattening of acetabular ceiling. We aimed to emphasize the necessity of early diagnosis and close monitoring because of the risk of sudden death.

Keywords

• neonatology
• narrow chest
• Jeune syndrome

Yenidoğan döneminde tanı alan Asfiktik Torasik Distrofi (Jeune Sendromu) vakası

Abstract

Jeune Sendromu nadir görülen otozomal resesif kalıtım gösteren bir iskelet kondrodistrofisidir. Hastalar genellikle solunum yetmezliğinden erken süt çocukluğu döneminde kaybedilirler. Hastalık renal displazi, hepatik ve pankreatik fibrozisi içeren geniş bir klinik tabloya sahiptir. Burada toraks ön arka ve transvers çapta daralma, asetabular tavanda düzleşme saptanarak tanı konulan Jeune Sendromlu bir olguyu sunduk. Ani ölüm riski taşımaları nedeniyle erken tanınıp yakından takip edilebilmesi gerekliliğini vurgulamayı amaçladık.

Keywords

• neonatoloji
• dar göğüs
• Jeune Sendrom

References

1. 1. Vries J. de, Yntema J.L. , Van die C.E , Crama N. ,Cornelissen E.A.M , Hamel B.C.J , Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr, 2010. 169(1): p. 77-88.
2. 2. Turkel, S.B., Diehl E.J. and Richmond J.A. , Necropsy findings in neonatal asphyxiating thoracic dystrophy. J Med Genet, 1985. 22(2): p. 112-8.
3. 3. Waters, A.M. and P.L. Beales, Ciliopathies: an expanding disease spectrum. Pediatr Nephrol, 2011. 26(7): p. 1039-56.
4. 4. CHRISTINE A. GLEASON, S.E.J., Avery's Diseases of the Newborn, 2018. TENTH EDİTİON(jeune syndrome): p. 1257.
5. 5. Casamassima M.G.S. ,Goldstein S.D., Salazar J.H., Papandria D., Mclltrot K., Abdullah F. et al, Operative management of acquired Jeune's syndrome. Journal of Pediatric Surgery, 2014. 49(1): p. 55-60.
6. 6. Digoy, G.P., M. Greenberg, and A. Magit, Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome. Int J Pediatr Otorhinolaryngol, 2005. 69(10): p. 1433-5.
7. 7. Patel, S.H., Banzali F.M Jr., Post R.J., Nguyen C.V., Benoit R.M., Tieu D.D., et al., Parturient With Barnes Syndrome (Thoracolaryngopelvic Dysplasia) Undergoing Cesarean Delivery of a Neonate With Barnes Syndrome: A Case Report. A A Pract, 2018. 11(6): p. 151-154.
8. 8. Balci, S., Altinok G., Tekşen F., Eryilmaz M., A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. Turk J Pediatr, 2003. 45(2): p. 174-8.