Asphyxiating Thoracic Dystrophy: Symptoms & Dynamic Thoracoplasty Treatment

What is Asphyxiating Thoracic Dystrophy?

Asphyxiating thoracic dystrophy is a rare genetic recessive syndrome where the restrictive small thoracic cage is still not properly developed. This prevents the lungs from developing and expanding as required for respiratory functioning. This is why infants born with this condition die within the first year of their lives. This is due to the failure of their respiratory system that gets restricted due to the incapacity of their lungs to expand.

Asphyxiating thoracic dystrophy is a rare type of dysplasia of the skeleton where the bone structure of the chest region gets affected. As a result the infant is born with a bell-shaped narrow chest. Patients with Asphyxiating thoracic dystrophy can also have potential kidney problems where there exist renal cysts, inadequate development of the bones in the legs and the arms and even a delayed growth of the general bone structure. This is a genetic disorder where a mutation of a minimum of 11 genes is required1,2.

Asphyxiating thoracic dystrophy is also known as Ciliary Chondrodysplasia or Skeletal Ciliopathy. This is a condition that occurs when there is a mutation of genes which helps in making proteins in the cells. Problems at this stage of the cell can affect the growth of the bones and the cartilage.

Dynamic Thoracoplasty for Asphyxiating Thoracic Dystrophy

Treatment for asphyxiating thoracic dystrophy can be done through the method of expansion thoracoplasty, which is done with the help of various surgical strategies. In one of the methods, the sternum or the human rib cage is split open. The separation is maintained with the help of methacrylate3 or rib grafting4 or through the methods of lateral rib cage expansion or homologous bone grafting5. However, the different methods that have been used do not happen to suffice the expansion requirements of the patient as they grow old. Till date, only two children with Asphyxiating thoracic dystrophy have been known to continue living with this kind of treatment until the third year of their lives. However, whether they are alive or not is not known.

Symptoms of Asphyxiating Thoracic Dystrophy

One of the most prominent symptoms of Asphyxiating thoracic dystrophy is the basic appearance of the chest of the child. The bell shape of the chest is a sign that the growth of the child’s lungs happens to be restricted which is bound to lead to respiratory distress. Other prominent symptoms are the presence of an extra number of toes and fingers at the time of birth1. Again if the arms and the legs seem to be shorter than usual, or the growth of the pelvic bones seems to be not properly developed that too could be a potential symptom. Cardiac defects at this stage can also be an indication of Asphyxiating Thoracic Dystrophy.

Infant patients often have recurring breathing distress. Respiratory distress is one of the main reasons for the mortality of the child even in the infant stage. Nearly 60 – 80% of children die at the age of infancy or during the first few years after their birth.

Rarely, there are cases found where Asphyxiating thoracic dystrophy patients survive the condition and moves to the age of adulthood. Such patients can develop other conditions such as cysts in the pancreas or the kidney, a problem of high blood pressure, potent liver problems and even dental abnormalities. Cardiac problems can also be another related problem with this condition1, 2.

Conclusion

One of the most important aspects here is that of diagnosing the problem. This must be done at an early stage so that the basic precautions and the steps of treatment can be taken. Advanced research is continuing in this domain so that better support can be provided to the patients and their caregivers alike.

References:  

  1. https://rarediseases.org/rare-diseases/dystrophy-asphyxiating-thoracic/
  2. https://www.annalsthoracicsurgery.org/article/S0003-4975(01)02565-6/fulltext
  3. Todd, D.W., Tinguely, S.J., and Norberg, W.J. A thoracic expansion technique for Jeune’s asphyxiating thoracic dystrophy. J Pediatr Surg. 1986; 21: 161–163
  4. Barnes, N.D., Hull, D., Milner, A.D. et al. Chest reconstruction in thoracic dystrophy.Arch Dis Child. 1971; 46: 833–837
  5. Aronson, D.C., Van Nierop, J.C., Taminau, A., and Vos, A. Homologous bone graft for expansion thoracoplasty in Jeune’s asphyxiating thoracic dystrophy. J Pediatr Surg. 1999; 34: 500–503

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