What is Jeune Syndrome ?
Jeune Syndrome is characterized by hereditary dystrophy of thoracic cage. Respiratory and excretory system anomalies may accompany this rare, autosomal, recessive (transfer of the disease with recessive gene) condition. Since Jeune Syndrome, abnormal skeletal tissue disorder, is rare, delays may occur in its diagnosis. It occurs one in every 100.000 to 130.000 live birth. Small, narrow chest results in restricted growth and expansion of the lungs. The prognosis of the disease depends on the severity of the thoracic deformity. Most of the patients die within 1 year of age due to respiratory problems. Thus, for infants with dyspnea and thoracic deformity, Jeune Syndrome should also be considered in differential diagnosis.
Jeune Syndrome
Jeune Syndrome
Cause
Jeune Syndrome occurs with narrow thoracic cage and multiple cartilage anomalies and was first diagnosed by Jeune and coworkers in a patient who died shortly after birth due to respiratory failure. Although exact cause is unknown, it is thought to be resulted due to a genetical disorder.
Signs
It is characterized by nanism, short ribs and narrow pelvis (hipbone). 60-70% of the patients die from breathing difficulties due to pulmonary hypoplasia. Renal problems may develop in those who survive. Symptoms such as webbing in fingers and toes, injury to retina, intestinal malabsorption, cystic liver, congenital hepatic cirrhosis, cystic alteration in pancreas, cardiac failure due to increase in the pulmonary vascular resistance are seen. Since the abdominal region has a more protruded appearance, there is a bell-shaped chest appearance. Narrow thoracic cage and increase in the fluid amount are noticeable in ultrasound scans during the prenatal period.
Diagnosis
For the diagnosis of the disease, physical examinations as well as radiological and clinical findings are controlled. Direct radiography, Computed Tomography (CT) or Magnetic Resonance can be used in order to determine the severity of the disease and the mode of treatment.
Treatment
Symptom-relieving supportive interventions and surgery to widen the stenosis in the chest can be performed. Various techniques can be used to treat this rare disorder. The main goal of surgery is to expand the volume of the rib cage and relieve the lung. Synthetic or autologous grafts are often used to enlarge the ribs. This increases the chest circumference and gives the lung more room to expand. Staged procedures may be necessary due to the child's growth. Dr. Mustafa Yüksel MD. has so far treated this rare syndrome by performing seven staged chest expansion surgeries in 5 cases. In all cases, a titanium bar was used to expand the rib cage. The success rate is quite high in cases with good case selection.