Asphyxiating thoracic dystrophy
Asphyxiating thoracic dystrophy
Description, Causes and Risk Factors:
Asphyxiating thoracic dystrophy is a very rare form of congenital dwarfism affecting the development of the bone structure, particularly of the chest (thorax) but also of the legs and arms. Typical, major characteristics include failure of the rib cage to develop correctly, kidney problems (renal failure due to polycystitis), and shortened bones of the arms and legs.
It is commonly subdivided into four clinical forms: lethal, severe, mild and latent based on the clinical course and radiological findings. The propositus belongs to the severe category. The classic infantile manifestations of ATD comprise of dwarfism with short limbs and characteristic radiographic changes in the ribs and pelvis. The reported case had all the classic clinical and radiological findings.
Linkage analysis localized the ATD locus to chromosome 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations.
The disorder is a rare and has an incidence rate of about 1 in every 33,000 livebirths. It often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency. The life-saving procedures to expand the chests of infants born with asphyxiating thoracic dystrophy provide a static solution incapable of responding to the growth demands of thriving patients.
The characteristic "bell-shaped" chest cavity results in the inability of the infant to breathe properly.
Lung infections, high blood pressure, pancreatic cysts and the growth of too many fingers and toes (polydactyly) may also occur.
ATD patients may also have insufficient growth of the pelvic bones and shortened long bones of the arms and legs.
Breathing and kidney problems are the most serious complications of ATD.
Asphyxiating thoracic dystrophy is characterized by insufficient growth of the rib cage (thorax) in newborns.
The presentation and severity of asphyxiating thoracic dystrophy may vary considerably. Even the degree of difficulty in breathing may vary from life-threatening failure to the apparent absence of distress at all.
The following studies are recommended in Asphyxiating thoracic dystrophy:
Defective urine concentrating capacity.
ABG: Hypoxia and hypercarbia in room air reflect severe restrictive lung disease.
Prenatal diagnosis is now possible through ultrasound imaging. A combination of breathing difficulties in the presence of a small, narrow chest, along with obvious shortened limb development, is usually sufficient for a diagnosis.
Treat respiratory infections vigorously with antibiotics, endotracheal suctioning, and postural drainage.
Nasogastric or gastrostomy feedings may be required.
Genetic counseling is indicated. The parents of a child affected with Asphyxiating thoracic dystrophy are obligatory carriers with a 25% recurrence risk.
Medical care in Asphyxiating thoracic dystrophy is supportive. Mechanical ventilation is urgently required in the most severe cases, in which respiratory distress develops immediately after birth. Less-severe cases gradually progress to respiratory failure as a result of multiple recurrent pulmonary infections.
Surgery is indicated only in the most severe cases in which failure to intervene will result in progressive pulmonary damage and eventual death. No data are currently available on long-term follow-up care of patients who have been surgically treated.
Chest reconstruction and enlargement of the thoracic cage by sternotomy and fixation with bone grafts or a methylmethacrylate prosthesis plate provides patients with the time needed for thoracic cage growth. Bone grafting can completely fill midsternal defect, thus preventing lung herniation, and supplies equal support along the sternal wound edges, avoiding localized high-pressure areas. No ribs or iliac crest grafts have to be harvested from the patient. A methylmethacrylate prosthesis can be made before surgery, thus saving considerable anesthesia time. The prosthesis supplies support along the entire length of the sternal edges to prevent herniation of the heart and lungs. The material is inert and the prosthesis can be replaced later if a larger strut is needed.
A second-stage procedure is needed to provide a better and more natural environment for further continuous expansion of the chest.
A procedure of lateral thoracic expansion was recently described in Asphyxiating thoracic dystrophy. The chest wall is enlarged by dividing the ribs and underlying tissue in a staggered fashion so that either rib or periosteum covers the lung. New bone formation has been demonstrated, and viable enlargement has been obtained. This procedure has been found to be safe and effective in selected patients older than one year.
A vertical expandable prosthetic titanium rib is a new and safe tool used to treat children with thoracic insufficiency syndrome. It may decrease carbon dioxide retention in some patients and may be most beneficial in younger children.
Dialysis and renal transplantation are indicated for renal failure. Cadaver renal transplantation was successful in a 10-year-old boy with Asphyxiating thoracic dystrophy.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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