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Asphyxiating thoracic dystrophy (Jeune Syndrome)

Islam Badr, M.Sc.; Rasha Kamel, MD; Samah Aboelsaoud, M.Sc.,Muhamed Al Bellehy, M.Sc.,Maha Abdulaziz Mousa; Mohammed Sobhy, Sameh Abdel Latif Abdel Salam, MD

Article Published: Jun 13, 2017
Islam Badr, M.Sc.*; Rasha Kamel, MD*; Samah Aboelsaoud, M.Sc.*,Muhamed Al Bellehy, M.Sc.*,Maha Abdulaziz Mousa**; Mohammed Sobhy **, Sameh Abdel Latif Abdel Salam, MD***

 

* Fetal Medicine Unit, Cairo University, Egypt;
** Department of Obstetrics & Gynecology; Cairo University, Egypt;
*** Radiology Department, Kasr Alainy Hospitals, Cairo University, Egypt.


Jeune syndrome is a skeletal dysplasia with an autosomal recessive mode of inheritance 1. It is characterized by micromelia, thoracic hypoplasia with renal involvement 1 with significant variability in phenotypic expression 2. A rhizomelic micromelia of mild to moderate degree characterizes the limb shortening in Jeune syndrome 2,3,4. Jeune syndrome is not always lethal as the degree of thoracic hypoplasia is variable with the most severe form representing as a narrow long bell-shaped thorax 1,3. Renal involvement is a significant finding in Jeune syndrome reported as hydronephrosis in some case reports or cystic renal changes in others 3. Renal affection represents the principle prognostic determinant in mild cases 4. Polydactyly is not a constant feature in Jeune syndrome and is beneficial in the process of differential diagnosis as it is an important clue together with congenital heart disease favoring the diagnosis of Ellis-Van Creveld syndrome 3. Polydactyly is also a clue for the diagnosis of Verma-Naumoff syndrome in the process of differential diagnosis 4. Polyhydramnios has been reported with Jeune syndrome 1,3. Other findings as situs inversus and ventriculomegaly have also been reported 3. There are contradictory data in the literature about the time when diagnosis can be made; whether it is feasible in the first trimester as an increase in the nuchal translucency together with short femur length or if it is infeasible before 24 weeks of gestation with the later opinion by far more frequently mentioned by many authors 2,4. An increase in nuchal translucency has been reported in first trimester with a constrictive effect on heart suggested as the underlying mechanism 2,4. Postnatal X-ray may reveal trident-shaped pelvis, an acetabular roof with medial spurs, handlebar clavicle and iliac bones of square shape 4. The hydropic appearance is frequent in cases of achondrogenesis II "Langer-Saldino" 5.6. However in cases of achondrogenesis, a much more severe striking degree of micromelia is encountered together with malposition of the affected limbs 2,5,6 and is associated with evident lack of ossification in vertebral bodies with large skull 6.  Achondrogenesis II sonographic features include micrognathia, protuberant abdomen, club foot, polyhydramnios, subcutaneous edema and cystic hygroma5.


 
Case Report

A 27-year old (G3P2) pregnant woman was referred to our unit at 29 weeks of gestation due to the presence of hydrops fetalis. The lady has undergone a first trimester ultrasound which revealed an increased NT with no other anomalies. Amniocentesis revealed normal karyotype. A second trimester anatomy scan was recommended but she returned back at 29 weeks of gestation with hydrops fetalis. Our ultrasound examination revealed:

- The presence of hydrops fetalis in the form of polyhydramnios, severe subcutaneous edema, pleural effusion and severe ascites
- All long bones are far below the 5th centile for gestational age with the rhizomelic segments more frequently affected however the degree of micromelia was not striking
- A narrow small bell-shaped thorax
- Renal affection in the form of hydronephrosis, echogenic kidneys and some cystic renal changes
- Normal mineralization of the skull and vertebral bodies
- Mild ventriculomegaly
- No micrognathia
- No polydactyly
- No talipes

Based on the above-mentioned ultrasonic findings; our diagnosis was asphysxiating thoracic dystrophy (Jeune Syndrome). Counseling has been made with the parents who opted for termination or pregnancy. Induction of labor resulted in delivery of a dead fetus. X-ray of the dead fetus was declined by the parents.

 
Image 1: shows that all the long bones are far below the 5th centile for GA. Note that the rhizomelic segments are the mostly affected (about 20 weeks in comparison to 22 weeks for the mesomelic segments).

Image 1

Images 2 and 3; and video 1: thoracic hypoplasia is demonstrated with evident discrepancy between the thoracic circumference and abdominal circumference which is aggravated by the presence of severe ascites. Note that the severe subcutaneous thoracic edema may lead to underestimation of the degree of thoracic hypoplasia as evident in the postnatal images. Image 3 shows also absence of polydactlyly.

Image 2 2
Image 3 2

Image 4 ; videos 2 and 3:  renal involvement in the form of hydronephrosis and some cystic renal changes. Note also that the renal tissue is hyperechogenic.

Image 4 2

Video 4: shows the normal ossification of the skull bones and the mild ventriculomegaly.


Video 5: axial sections showing severe ascites, bilateral pleural effusion and severe diffuse subcutaneous edema.


Images 5, 6 and 7; videos 6, 7 and 8: show the normal hands and feet. Note absence of polydactyly and the normal carrying angle (no talipes).

Image 5 2
Image 6 2
Image 7 2

Images 8, 9 and 10 ; videos 9 and 10: show the normal face. Note absence of micrognathia and absence of cleft lip or palate. Hydropic appearance of the face is due to the diffuse facial edema.

Image 8 2
Image 9
Image 10

Video 11: normal heart examination especially the atrial septum. Although a suspicion about aortic coarctation was originally present due to the evident discrepancy between the left side and the right side however a further thorough scan revealed the presence of normal aortic isthum.


Image 11: normal shape of the hepatic lobes. Situs anomalies have been reported with Jeune syndrome.

Image 11

Video 12: shows the clavicle. It is hard to judge on the presence of a handlebar clavicle from such position.


Image 12: postnatal image of the fetus.

Image 12

References

1. Majhi SC, Deepthi B, Pradhan S, Ramani B. Jeune syndrome – asphyxiating thoracic dystrophy and its prenatal diagnosis: a rare case report. Int J Contemp pediatr. 2015; 2:59-61

2. Souka AP, Snijders RJM, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestations. Ultrasound Obstet Gynecol 1998; 11:391-400

3. Tongsong T, Chanprapaph P, Thongpadungroj T. Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). J Ultrasound Med 1999; 18:573-576

4. Den Hollander NS, Robben SG, Hoogeboom Aj, Niermeiijer MF, Wladimiroff JW. Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound Obstet Gynecol 2001; 18:378-383

5. Lee HS, Doh JW, Kim CJ, Chi JC. Achondrogenesis type II (Langer-Salindo achondrogenesis): a case report. J Korean Med 2000; 15:604-608

6. Sugeta K, Tsuji S, Katsura D, Kimura F, Seko-Nitta A, Murakami T. Prenatal diagnosis of achondrogenesis type 2 in the early second trimester by using three-dimensional computed tomography. Ann Clin Case Rep. 2017; 2:1230

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