Jeune, syndrome or asphyxiating thoracic dystrophy
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[MIM 208 263, 611 263, 613 091, 613 819, 614 376 ]
(short rib asphyxiating dysplasia, family asphyxiating thoracic dystrophy)
Prevalence: 1/125,000. Autosomal recessive transmission of mutations of IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 et TTC21B (2q24.3) genes. Those genes code for a protein responsible for the intraflagellar transport of proteins
synthesized in the cytoplasm of the cells.
Skeletal chondrodysplasia with:
- narrow, bell-shaped chest, with pulmonary hypoplasia
- hypoplasia of the ribs which are short and horizontal; raised 'bicycle handelbar-shaped'clavicles.
- hypoplasia of the hips
- prolonged neonatal jaundice
- short limbs: height < P50
Respiratory failure results in death in infancy in 60 to 80 % of the cases (severe form) because of a major restrictive syndrome. Surgical interventions like expansion thoracoplasties are sometimes performed.
In case of survival (moderate form), frequent respiratory infections and intolerance to physical activities are present: 30 % of these patients suffer from renal insufficiency due to nephronophtisis (hypertension, polyuria, polydipsia), and hepatic (cholangiopathy) and pancreatic fibrosis. Eye involvement appears later in 15 % of cases: retinal dystrophy, abnormal pigmentation of the retina, nystagmus
Anesthetic implications:
in the neonatal period: pulmonary hypoplasia, chronic respiratory acidosis and risk of pulmonary hypertension (echocardiography). Older child: restrictive syndrome, kidney and liver function. Evaluate paCO2 at room air (arterial, teleexpiratory, or transcutaneous) preoperatively
References :
- Borland LM.
Anesthesia for children with Jeune's syndrome (asphyxiating thoracic dystrophy).
Anesthesiology 1987; 66: 86-8.
- de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EAM, Hamel BCJ.
Jeune syndrome : description of 13 cases and proposal for follow-up protocol.
Eur J Pediatr 2010; 169: 77-88.
- Saletti D, Grigio TR, Tonelli D, Riberiro ODJr, Marini F.
Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome.
Rev Bras Anestesiol 2012; 62: 424-31.
- Buget MI, Ozkan E, Edipoglu IS, Kucukay S.
Anesthetic approach for a patient with Jeune syndrome.
Case Reports in Anesthesiology 2015; 509196
- Kotoda M, Ishiyama T, Okuyama, Matsukawa T.
Anesthetic management of a child with Jeune’s syndrome for tracheotomy: a case report.
A&A Case reports 2017; 8: 119-121
- Salik I, Genis A, Barst S.
Anesthetic management of an infant with Jeune syndrome and severe pulmonary hypertension for tracheostomy.
J Clin Anesth 2019; 52: 76-7.
- Kondo H, Hyuga, Fujita T, Adachi M, Mochizuki J, Okutomi T.
First report of spinal anesthesia for cesarean delivery in a parturient with Jeune syndrome: a case report.
A&A Practice 2021 ; 15 e 01400
Updated: March 2021