What is the management plan for Jeune syndrome?

Management of Jeune Syndrome (Asphyxiating Thoracic Dystrophy)

All children with Jeune syndrome require immediate referral to a specialized pediatric center with multidisciplinary expertise in skeletal dysplasia, respiratory support, and thoracic surgery, as respiratory insufficiency is the primary cause of early mortality and aggressive early intervention can significantly improve survival. 1, 2

Initial Assessment and Diagnosis

Clinical Evaluation

• Confirm diagnosis through skeletal radiographic survey showing characteristic narrow, bell-shaped thorax with short, horizontal ribs and shortened long bones 1, 2
• Assess severity of thoracic constriction and degree of respiratory compromise immediately at birth or presentation 3, 4
• Evaluate for extrathoracic manifestations including renal dysfunction (cystic kidney disease, nephronophthisis), hepatic fibrosis, pancreatic insufficiency, and retinal dystrophy 1, 2, 5
• Perform baseline renal ultrasound and function tests even if asymptomatic, as renal complications can present early and progress silently 5

Genetic Confirmation

• Store DNA from affected patients for molecular diagnosis to establish recurrence risk and enable prenatal diagnosis in future pregnancies 1
• Recognize that Jeune syndrome is allelic to lethal short-rib-polydactyly syndromes and requires full clinical workup to interpret molecular test results accurately 1

Respiratory Management

Immediate Stabilization

• Initiate respiratory support based on severity: supplemental oxygen, non-invasive positive pressure ventilation, or mechanical ventilation with tracheostomy for severe cases 3, 2
• Consider neurally adjusted ventilatory assist (NAVA) ventilation to improve patient-ventilator synchrony, reduce endotracheal secretions, and minimize gastric overdistention in mechanically ventilated infants 6
• Provide intensive respiratory support in the first years of life, as thoracic malformation becomes less pronounced with age and respiratory problems typically decrease 2

Surgical Intervention

• Perform bilateral thoracic expansion surgery for children requiring regular positive pressure ventilation or tracheostomy, as this offers effective reduction in ventilator requirements and improved lung development 3
• Execute single-stage bilateral thoracic expansion using staggered osteotomies of ribs 3-8 with plate fixation of ribs 4-5 and 6-7, leaving remaining ribs floating 3
• Time surgery when patient demonstrates adequate nutritional status and stable respiratory parameters, typically after optimizing ventilatory support 6
• Recognize that single-stage bilateral repair is feasible and may offer better resource management compared to two-stage sequential procedures without compromising outcomes 3

Common pitfall: Delaying thoracic expansion surgery in favor of prolonged conservative management can result in irreversible pulmonary hypoplasia and increased mortality. Early surgical intervention (median age 30 months in successful series) maximizes lung development potential 3

Organ-Specific Monitoring Protocol

Renal Surveillance

• Perform renal ultrasound and comprehensive metabolic panel including creatinine, BUN, and urinalysis every 6 months 2, 5
• Monitor for progressive renal dysfunction, as nephronophthisis can develop even with initially normal imaging 5
• Refer to pediatric nephrology at first sign of renal impairment for consideration of renal replacement therapy 2

Hepatic Assessment

• Obtain baseline liver function tests and abdominal ultrasound to screen for hepatic fibrosis 2
• Repeat hepatic evaluation annually or if clinical signs of portal hypertension develop 2

Ophthalmologic Screening

• Arrange ophthalmologic examination at diagnosis and annually thereafter to detect retinal dystrophy 2, 4

Pancreatic Function

• Monitor for signs of pancreatic insufficiency including malabsorption and failure to thrive 4
• Provide pancreatic enzyme replacement if deficiency documented 4

Nutritional Support

• Optimize enteral nutrition to support growth and prepare for potential surgical intervention 6
• Address feeding difficulties related to respiratory compromise with nasogastric or gastrostomy feeding as needed 6
• Monitor weight gain closely, as adequate nutritional status improves surgical candidacy 6

Prognosis and Family Counseling

• Inform families that prognosis is better than historically reported, with survival beyond infancy achievable in many cases, particularly with aggressive early respiratory support and timely thoracic expansion 2
• Explain that respiratory problems typically improve with age as thoracic cage grows, but extrathoracic complications (renal, hepatic) may emerge in later childhood and require lifelong monitoring 2, 4
• Provide genetic counseling regarding 25% recurrence risk in future pregnancies due to autosomal recessive inheritance 1, 4
• Discuss availability of prenatal diagnosis if molecular diagnosis established 1

Critical caveat: While respiratory distress dominates early presentation, renal and hepatic complications are major causes of morbidity and mortality in survivors, necessitating lifelong multisystem surveillance even after respiratory status stabilizes 2, 4, 5