Jeune’s Syndrome is a form of congenital dwarfism causing children to have a deformity of their chest wall. The chest cage is extremely small and doesn’t have enough room for proper breathing. The ribs are broad, short and irregularly joined between the cartilage and sternum, or breastbone. This produces a bell-shaped, inflexible chest cavity, which doesn’t grow well in time. Without treatment, children with severe cases of Jeune’s will slowly, and progressively, run out of room to breathe.
A child with Jeune’s may have symptoms as early as a newborn, or as late as 4-5 years of age. Depending on the progression of the disease, respiratory symptoms can range from mild to severe. A mild symptom includes a slightly rapid breathing rate where a more severe form can include recurrent pneumonia. The most severe form may cause the inability to breathe without help from a breathing machine, or ventilator.
A child with Jeune’s Syndrome is typically small in overall size and may have liver or kidney disease in addition. Children who have more mild symptoms often respond well to treatment that is aimed at ongoing medical support of their lungs. Depending on the child’s particular symptoms, treatment may include prompt antibiotics for infection, proper mobilization of secretions, supplemental oxygen, BiPap, non-invasive ventilator (or breathing) support or other forms of respiratory therapy. For more severe cases, Nationwide Children’s Hospital has devised a method for expanding the chest cavity that has created hope for many children who previously had few options.
Treatment for all Jeune’s patients begins with a series of tests by a multidisciplinary team of Jeune’s specialists. Less severe cases of Jeune’s are typically then treated with various forms of medical support for the lungs. Severe cases normally require surgery.
If the tests determine that the deformity of the chest wall does exist, but symptoms of Jeune’s are mild or not present at all, we normally will not recommend taking on the risk of an operation. While there is indeed significant smallness of the chest, since the patients themselves are small in stature, they may be able to live a relatively normal life in spite of the deformity. In that case, ongoing treatment is simply aimed at medical support of their lungs: prompt antibiotics for infection, proper mobilization of secretions, supplemental oxygen if necessary, BiPap or other forms of respiratory support. There is no medical treatment of the underlying deformity. A child with a less severe case of Jeune’s will have routine visits with his or her Jeune’s specialist, even when no symptoms are present.
Patients, whose tests reveal symptoms of Jeune’s, combined with reasonably normal lungs, are considered for Lateral Thoracic Expansion (2 stage surgery). Each surgery expands one side of the chest cavity and allows for expansion of both the left and right sides, thus doubling the total enlargement possibility. The surgeries are separated by six months to one year.
The procedure begins with ribs 4 through 9, where the skin, tissue and muscles on top of the chest wall are lifted. The ribs are separated from their underlying rib beds and remaining chest wall and are then divided in a staggered position. The underlying chest wall is also divided and staggered in the opposite direction from the rib divisions. The long ends of ribs 5 and 6, as well as ribs 7 and 8, are then pulled apart and put together to expand the chest length. The divided ribs allow for expansion of the chest cavity. The two expanded rib segments are held together with titanium plates, which stabilize the enlargement. The plates act as an internal cast to maintain the expansion while the ribs heal. The rib bed, which has then been exposed, will then make more rib-like boney tissue. The hopeful result of each surgery is to actually create more chest wall that can regenerate more rib.
Since our procedure is still relatively new and Jeune’s is a rare condition, long-term outlook for patients remains unclear. At this point, the surgery has proven successful in older children. Our longest follow up is about 10 years and so far no patient has required re-expansion. We have great hope that rib expansion of the chest cavity will indeed result in expansion of the underlying lung. We would like to emphasize to all parents that there is much more learning, discovering and improving yet to come.
Source: Nationwide Children’s Hospital