Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Treatment & Management

Updated: Jun 16, 2017
  • Author: Santina A Zanelli, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Approach Considerations

The priority in managing patients with JS is supporting respiratory function.

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Medical Care

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  • Medical care in JS is supportive.
  • Mechanical ventilation is urgently required in the most severe cases, in which respiratory distress develops immediately after birth. Less severe cases gradually progress to respiratory failure as a result of multiple recurrent pulmonary infections.
  • Treat respiratory infections vigorously with antibiotics, endotracheal suctioning, and postural drainage.
  • Nasogastric or gastrostomy feedings may be required.
  • Genetic counseling is indicated. The parents of a child affected with JS are obligatory carriers with a 25% recurrence risk.
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Surgical Care

Surgery is indicated only in the most severe cases, in which failure to intervene will result in progressive pulmonary damage and eventual death. No data are currently available on long-term follow-up care of patients who have been surgically treated.

Chest reconstruction

Chest reconstruction and enlargement of the thoracic cage by sternotomy and fixation with bone grafts or a methylmethacrylate prosthesis plate provides patients with the time needed for thoracic cage growth. Bone grafting can completely fill midsternal defect, thus preventing lung herniation, and supplies equal support along the sternal wound edges, avoiding localized high-pressure areas. No ribs or iliac crest grafts have to be harvested from the patient. A methylmethacrylate prosthesis can be made before surgery, thus saving considerable anesthesia time. The prosthesis supplies support along the entire length of the sternal edges to prevent herniation of the heart and lungs. The material is inert and the prosthesis can be replaced later if a larger strut is needed.

A second-stage procedure is needed to provide a better and more natural environment for further continuous expansion of the chest.

Lateral thoracic expansion

A procedure of lateral thoracic expansion has been described in JS. The chest wall is enlarged by dividing the ribs and underlying tissue in a staggered fashion so that either rib or periosteum covers the lung. New bone formation has been demonstrated, and viable enlargement has been obtained. This procedure has been found to be safe and effective in selected patients older than 1 year.

A study by Muthialu et al indicated that thoracic expansion can be effectively performed bilaterally in one procedure rather than on one side of the chest wall at a time in separate procedures, reducing patients’ ventilator requirements. The study included seven children who underwent the bilateral procedure, with, at median 11-month follow-up, three children having been discharged home, two receiving significantly decreased respiratory support, one using noninvasive ventilation, and one remaining ventilated with a high oxygen requirement. (One patient died within 3 months postoperatively of pulmonary hypertension.) [18]

Other procedures

A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome. It may decrease carbon dioxide retention in some patients and may be most beneficial in younger children. A study by O’Brien et al indicated that use of a 70-mm–radius, vertical, expandable titanium rib can significantly increase the survival rate of individuals with JS. The prosthesis was implanted in the study’s patients at a mean age of 23 months, with follow-up averaging 8.4 years. The patient survival rate was 68%, and less ventilator dependence was noted. [19]

Distraction osteogenesis has been used successfully to distract both sternum and ribs in an infant with JS. [20]

Dialysis and renal transplantation are indicated for renal failure. Cadaver renal transplantation was successful in a 10-year-old boy with JS type 2.

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Consultations

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  • Clinical geneticist
  • Radiologist
  • Anesthesiologist
  • Pediatric surgeon
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Diet

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  • No special diet is required.
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Activity

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  • No restriction of activities is required for survivors of this condition.
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