ESPN 51th Annual Meeting

ESPN 2018


 
Asphyxiating thoracic dystrophy (Jeune syndrome): Case report of a rare cause of chronic kidney disease in children
SAMEH MABROUK 1 NOURA ZOUARI 1 HOUDA AJMI 1 FADWA MAJDOUB 1 JALEL CHEMLI 1 SAIDA HASSAYOUN 1 SAOUSSEN ABROUG 1

1- DEPARTEMENT OF PEDIATRICS UNIVERSITY HOSPITAL OF SAHLOUL (SOUSSE - TUNISIA)
 
Introduction:

 

Asphyxiating thoracic dystrophy, or Jeune syndrome, is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities, multi-organ involvement and variable severity. We report a paediatric case of JS revealed by a chronic kidney disease (CKD).

Material and methods:

 Case report

Results:

  It is about an 8 years old girl. She is born of a consanguineous marriage. She has a history of recurrent respiratory infections. She first presented with CKD due to a chronic tubulo-interstitial nephropathy. Physical examination showed a dysmorphism with dwarfism and shortening of extremities relative to trunk. Ophthalmological explorations showed retinitis pigmentosa. Radiologic findings showed short ribs and abnormal pelvic morphology, with a horizontal acetabular roof and a trident aspect formed by a median protrusion and two lateral spurs. Hands were short with cone-shaped epiphyses in the phalanges. The association of kidney disease and these suggestive skeletal abnormalities, Jeune syndrome was diagnosed. This patient rapidly progressed to end stage kidney disease; she was put on peritoneal disease, and died because of a respiratory infection

Conclusions:

 

Kidney involvement is rare in Jeune syndrome children; however it aggravates the outcome of the disease, as well as respiratory complications.