Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery “On Demand”

Abstract

Our aim is to present the treatment of one of the skeletal manifestations of Jeune's syndrome (JS), the hypoplastic chest, which can result in thoracic insufficiency syndrome and present “on-demand” stage surgical technique using mandible locking plate system for the fixation of ribs. The diagnosis “Jeune's syndrome” was presented clinically in a 3-month-old girl from a family in which the first child died of JS at the age of 18 months. After close follow-up for several months and preoperative planning, we decided to make reconstructive chest operation with atypical use of a double-angled mandible locking plate for fixation. The plate was shaped as a “crown” to ensure the three dimension stability, from the dorsal part of the most curved ribs (paravertebrally) to the sternum after the resection of this area. Operation was done at the period of worsened breathing. For nearly 1 year, the rib cage preserved its stability and the child was in good condition. During the next 3 months, the upper part of the deformation started to grow inward fast. Second operation was “on demand,” and the implants used were mandible locking plates curved anterolaterally to effectuate extension of the rib cage and the sternum. In both the reconstructive operations, we spared the rectus and pectoral muscles and achieved good enlargement of the thoracic volume. The postoperative period is smooth and the child is active, without complications. We believe that in the future, the treatment should be “on demand” according to the course of the illness and the results of the follow-up examinations and adequate to the progress of chest wall deformity.

Bilateral correction of asphyxiating thoracic dystrophy

“…Therefore, the purpose of operation is to relieve the restriction of lung tissue. Generally, the previous surgical methods can be divided into three categories: median thoracic expansion (MTE) [ 2 ], lateral thoracic expansion (LTE) [ 3 ] and orthopedic surgery [ 4 ]. MTE is to split the sternum from the middle and then support it with different materials to increase the thorax volume [ 2 ].…”

“…LTE is to divide the ribs in a staggered fashion and then made the adjacent long ends of the ribs opposed and secured with titanium bar, which can also increase the thorax volume [ 3 ]. Orthopedic surgery is directly aimed at the depression on the chest wall, which can directly increase the volume of the thorax by eliminating the depression [ 4 ]. Although all these operations have definite effects, they also have some disadvantages.…”

Novel median thoracic expansion for asphyxiating thoracic dystrophy

“…Lesions of ATD involve multiple organs, but the main manifestation is narrow chest [ 3 , 4 ]. The only effective way to treat it is operation.…”

“…The main purpose of the operation is to increase the thorax volume. There are many methods reported in the literature, which can be summarized into three categories: median thoracic expansion (MTE) [ 1 ], lateral thoracic expansion (LTE) [ 2 ] and orthopaedic surgery [ 3 , 4 ]. Different authors have used these methods to treat ATD, but no one has discussed the indications of these methods [ 1–4 ].…”

“…Asphyxiating Thoracic Dystrophy (ATD) is an extremely rare and dangerous genetic disease [ 1 ]. Due to the narrow thorax and severe compression of the lungs, most patients die in the first year after birth [ 2 , 3 ]. We recently performed an operation on a 4-month-old patient.…”