Approach Considerations
The priority in managing patients with JS is supporting respiratory function.
Medical Care
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.
Based on a case report of a pediatric JS patient with influenza pneumonia, as well as an analysis of 27 persons with a surrogate diagnosis of thoracic insufficiency (as listed in the Extracorporeal Life Support Organization [ELSO] registry), Hancock et al concluded that extracorporeal membrane oxygenation (ECMO) may offer supportive benefit in thoracic insufficiency cases. The rate of survival to discharge among the 27 patients did not significantly differ from that of previously healthy ECMO-supported individuals. [20]
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.) [21]
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. [22]
Distraction osteogenesis has been used successfully to distract both sternum and ribs in an infant with JS. [23]
Dialysis and renal transplantation are indicated for renal failure. Cadaver renal transplantation was successful in a 10-year-old boy with JS type 2.
Consultations
See the list below:
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Clinical geneticist
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Radiologist
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Anesthesiologist
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Pediatric surgeon
Diet
See the list below:
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No special diet is required.
Activity
See the list below:
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No restriction of activities is required for survivors of this condition.
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An infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
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A child with Jeune syndrome. Note long narrow thorax with respiratory difficulty.
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Note cystic renal dysplasia on the left kidney and renal hypoplasia on the right kidney.
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Note the narrow chest and shortened ribs.
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Note the shortened upper extremity with acromelic shortening.
