DiGeorge Syndrome: Symptoms, Types, and Treatment Options

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small segment of chromosome 22. It is

Hello! What are the clinical manifestations of DiGeorge syndrome, and are there different types? What are the treatment options? If a child is nearly three years old but has been frequently admitted to the intensive care unit and has undergone tracheostomy, how can we stabilize their vital signs? Thank you!

Emily, 30~39 year old female. Ask Date: 2008/11/20

Dr. Lin Xuanpei reply Rare Disease

DiGeorge syndrome is a congenital disorder caused by a deletion in the long arm of chromosome 22 at the 22q11.2 region, also known as CATCH22 (which stands for cardiac abnormalities, T cell deficit, clefting, and hypocalcemia; however, a small number of patients may have deletions in the short arm of chromosome 10 at 10p13 or may be affected by certain teratogenic substances).
The clinical manifestations of DiGeorge syndrome can vary significantly among individuals and can generally be categorized into three main types: 1.
Shprintzen syndrome, or velocardiofacial syndrome (VCFS; OMIM #192430); 2.
Conotruncal anomaly face syndrome (or Takao syndrome); 3.
Isolated outflow tract defects of the heart, including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch.

In addition to these three main clinical presentations, some patients may also have associated immune deficiencies and hypocalcemia.
Furthermore, in some family cases, different affected individuals within the same family may present with the aforementioned three different types of abnormalities.
Therefore, regarding your child's condition, in addition to providing intensive respiratory care, it is essential to assess whether there are associated cardiovascular abnormalities, immune system deficiencies, and whether nutritional status is adequate.
It is also important to consider whether the child is actively receiving rehabilitative treatment.
I recommend discussing and formulating a specific long-term care plan with your child's attending physician.
After doing your best, it is important to learn to accept the situation.

Reply Date: 2008/11/20

More Info

DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a congenital disorder resulting from a deletion on chromosome 22. This condition is characterized by a wide range of clinical manifestations, which can vary significantly from one individual to another. The symptoms primarily arise from the developmental issues associated with the deletion, affecting multiple systems in the body.

Clinical Manifestations
The clinical features of DiGeorge Syndrome can be grouped into several categories, often summarized by the acronym CATCH22, which stands for:
- Cardiac defects: Many individuals with DiGeorge Syndrome have congenital heart defects, such as tetralogy of Fallot, truncus arteriosus, or interrupted aortic arch.

- Abnormal facies: Distinctive facial features may include a long face, almond-shaped eyes, and low-set ears.

- T-cell immunodeficiency: Affected individuals often have a reduced number of T-cells, leading to increased susceptibility to infections.

- Cleft palate: Some patients may present with a cleft lip and/or palate.

- Hypocalcemia: Low calcium levels can occur due to parathyroid gland dysfunction.

DiGeorge Syndrome can be classified into different types based on the specific manifestations and severity of symptoms. The three main types include:
1. Velocardiofacial Syndrome (VCFS): This is the most common presentation and includes a combination of cardiac defects, palatal abnormalities, and characteristic facial features.

2. Conotruncal Anomaly Face Syndrome: This type is characterized by specific heart defects and facial dysmorphisms.

3. Isolated Outflow Tract Defects: Some individuals may only present with heart defects without other significant features.

Treatment Options
The management of DiGeorge Syndrome is multidisciplinary and tailored to the individual’s specific needs. Treatment may include:
- Cardiac Surgery: For those with significant heart defects, surgical intervention may be necessary.

- Immunological Support: Patients with T-cell immunodeficiency may require immunoglobulin therapy or other supportive measures to prevent infections.

- Calcium and Vitamin D Supplementation: For those with hypocalcemia, supplementation is crucial to prevent complications such as seizures.

- Speech and Feeding Therapy: Children with cleft palate may benefit from speech therapy and specialized feeding techniques.

- Psychological Support: Given the potential for developmental delays and social challenges, psychological support and educational interventions can be beneficial.

Stabilizing Vital Signs in a Child with DiGeorge Syndrome
For a child nearing three years of age who has been frequently admitted to the intensive care unit (ICU) and has undergone tracheostomy, stabilizing vital signs is critical. Here are some strategies that may be employed:
1. Respiratory Management: Ensure that the tracheostomy is properly maintained and that the child is receiving adequate ventilation. Regular suctioning and monitoring for any signs of respiratory distress are essential.

2. Monitoring and Support: Continuous monitoring of vital signs, including heart rate, respiratory rate, oxygen saturation, and blood pressure, is crucial. Any abnormalities should be addressed promptly.

3. Nutritional Support: Assess the child’s nutritional status and provide appropriate feeding methods, possibly through a gastrostomy tube if oral feeding is not feasible.

4. Infection Control: Given the immunodeficiency associated with DiGeorge Syndrome, strict infection control measures should be in place to prevent hospital-acquired infections.

5. Collaborative Care: Engage a multidisciplinary team, including pediatricians, cardiologists, immunologists, and respiratory therapists, to develop a comprehensive care plan tailored to the child’s needs.

6. Family Support and Education: Providing education and support to the family is vital, as they play a crucial role in the child’s care and management.

In conclusion, DiGeorge Syndrome presents a complex array of clinical challenges that require a comprehensive and individualized approach to treatment and management. Early intervention and a coordinated care strategy can significantly improve the quality of life for affected individuals.

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