Other Conditions

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Jeune Syndrome

 

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is an uncommon genetic disorder that primarily affects the development of the ribs and thorax in infants and children. It is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected.

 

The main characteristics of Jeune syndrome include a narrow and constricted rib cage, as well as general chondrodystrophy resulting in short limb dwarfism. Other associated features may include pelvic and phalangeal abnormalities, polydactyly, renal and hepatic disorders, thrombocytopenia, and the Schwachman syndrome. The small chest and short, narrow ribs restrict the space available for the lungs and internal organs, leading to severe respiratory problems such as difficulty breathing and respiratory failure, which can be life-threatening. However, individuals with milder skeletal abnormalities may experience only mild breathing difficulties and can live into adolescence or adulthood. Less common symptoms may involve liver disease, pancreatic cysts, dental abnormalities, and a retinal dystrophy that can cause vision loss.

 

Diagnosis of asphyxiating thoracic dystrophy is typically made shortly after birth when the circumference of the chest is significantly smaller than that of the head. It involves assessing physical symptoms and conducting radiological examinations such as chest X-rays. Genetic testing may also be performed to identify the specific mutations responsible for the disease. Radiographic findings commonly reveal a narrow and bell-shaped chest cage, high positioned clavicles, short horizontal ribs, and flaring of the costochondral junctions. The underdeveloped ribs result in a fixed chest with a very limited volume and poorly inflated lungs.

 

Without treatment, most infants with asphyxiating thoracic dystrophy do not survive due to respiratory failure. Unfortunately, there is no cure for Jeune syndrome, and treatment primarily focuses on managing symptoms and improving quality of life. This may involve the use of respiratory support devices such as ventilators or continuous positive airway pressure (CPAP) devices to aid breathing. In some cases, surgical intervention may be necessary to correct thoracic problems. Tragically, approximately 60% to 70% of children with this condition pass away from respiratory failure in infancy or early childhood.

 

Long-term management of Jeune syndrome requires a collaborative approach involving specialists from various disciplines such as pulmonology, genetics, orthopedics, and nephrology. Regular follow-up appointments, respiratory care, growth monitoring, and support for families are crucial elements of overall disease management.

 

There have been reports of less severe variants of Jeune syndrome with varying clinical courses, ranging from respiratory failure in infancy to minimal or no respiratory symptoms at all. In those who survive the neonatal period, respiratory failure may occur during infancy and childhood due to chest constriction, impaired lung growth, recurrent pneumonia, or atelectasis. With age, there may be some improvement in the bone abnormalities, which may justify life-support procedures such as long-term mechanical ventilation in early life. Additionally, surgical interventions, like the lateral thoracic expansion procedure utilizing multiple costal osteotomies and titanium plates to promote new bone formation and enlarge rib cage dimensions, have been attempted with varying degrees of success.

 

Author
Ivan Schewitz, M.D.
 

Reference

Jeune et al. Archives Françaises de Pédiatrie (in French). 12 (8): 886–91. 

https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/

Kendig’s Disorders of the Respiratory tract in Children. Chapter 51(7th Edition) https://www.sciencedirect.com/science/article/abs/pii/B9780721636955500559?via%3Dihub

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Sternal Cleft

 

Sternal cleft is a congenital anomaly of the sternum (Figure 1), resulting in incomplete fusion of the ventral portion of the sternum during embryonic life in varying degrees. With an incidence of 1:100,000 live births, it represents 0.15% of all chest wall malformations. A female predominance is described and the etiology is not defined.

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Sternal cleft can be classified as complete or partial, the former being rarer. The partial form is divided into superior, inferior, and medial (also called sternal foramen). The upper one is the most common, subdivided into a “U” or “V” shape (where it reaches the xiphoid process).

The diagnosis can be made prenatal, with ultrasonography and nuclear magnetic resonance, or in the postnatal period, with computed tomography of the chest (Figure 2) and MRI of the chest and abdomen.

Patients are mostly asymptomatic (74%), but there are reports of dyspnea, ventilatory effort and recurrent infection. On examination and during surgical exploration, one can observe the heart covered by the pericardium, subcutaneous tissue and skin, in addition to the lung covered by the pleura, subcutaneous tissue and skin.

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The treatment is surgical and aims to offer protection to the mediastinal organs and aesthetic correction. Surgery should preferably be performed in the neonatal period, when the chest wall is more malleable and the defect is smaller, reducing the need for prosthetic material. The surgery consists of the primary approximation of the sternal bars, or the performance of chondrotomy and chondrectomy, and creation of a periosteal bridge, offering an anatomical substrate for osteogenesis, leading to the remodeling of a “new sternum”. When necessary, filling the defect can be obtained using prosthetic material, biocompatible material, bovine pericardium, extracellular matrix, bone tissue graft and autologous cartilage or through muscle flap.

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Due to the association of the sternal cleft with hemangiomas, some physicians perform routine bronchoscopy on these patients.

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Cardiac compression, which can occur mainly in primary closure techniques by approximation, is one of the complications described. Exteriorization of a polypropylene mesh, used in some cases to approximate the pectoral muscle, is a complication that is avoided with the use of an absorbable polyglactin mesh. Other complications described are seroma and pneumothorax. When reviewing the literature, associated cardiac anomalies are more related to the mortality rate.