1. KENNEDY ABUGA LUCIA JACKSON MELANIA MADAFU
NOONAN SYNDROME
KENNEDY ABUGA
LUCIA JACKSON
MELANIA MADAFU

2. CASE REPORT A 3 year old male child was admitted to PICU
With cough, cold and shortness of breath of 7 days duration.
His cough was productive, associated with breathlessness which was sudden in onset.

3. There was history of recurrent tract infections.
At 7 months of age the child was diagnosed at a private hospital to have a congenital heart disease.

4. What is Noonan Syndrome?
Noonan Syndrome (NS) is a relatively common congenital disease that affects both males and females equally. This is an autosomal dominant disorder

5. History of NS
Dr. Jacqueline Noonan

6. Dr. John Optiz proposed that Noonan’s Syndrome be given the name because Dr. Jackie Noonan was the first to recognize and describe the condition that occurred in both sexes.

7. Incidence Estimated prevalence of 1 in 1000 to 1 in 2500 live births.
Almost all children with NS reach adulthood and most are able to lead normal, independent lives. However, problems such as heart defects can occasionally be sever and life- threatening.
Incidence

8. Incidence

9. Causes
1. Inheritance Risk of passing the defective gene from parent to child is 50% for each pregnancy. 2. Gene mutation Abnormally in one of several genes concerned with development can lead a person to develop such a syndrome.

10. Pathophysiology

11. Clinical manifestations
Mildly unusual facial features (spaced eyes, light colored eyes, low set ears, a short neck, a small lower jaw)
Short height
Bleeding problems
Skeletal malformations
A broad webbed neck

12. Diagnosis
Diagnosis can be difficult because some features are subtle and hard to identify.
Not diagnosed until adulthood
Molecular genetic testing can help confirm a diagnosis. If there’s evidence of heart conditions, then the cardiologist can assess the type and severity.

13. Treatment
The earlier diagnosis made and treatment is started the greater the benefits.
Treatments can help minimize its effects.
Treatment of the symptoms and complications that occur with noonan syndrome depends on type and severity.

14. Heart treatment
Certain drugs may be effective in treating some kind of heart problems, if there is a problem with heart valves, surgery may be necessary.
Learning disabilities
Physical and speech therapies are helpful in addressing a variety of possible issues.

15. Bleeding and Bruising treatment
Avoid aspirin containing products, in some cases doctors may prescribe drugs that help blood to clot.
Treatment for genital problems
If one or two testicles haven’t moved into proper positions within the first few months of life (undescended testicles), surgery may be needed.

16. Vision and hearing treatment
Eye exams are recommended at least every two year, eye issues can be treated with glasses alone. Surgery may be needed for some conditions such as cataracts.

17. Thank You!