2. Case Report
A 3 year old male child was admitted to pediatric ward
with cough, cold and breathlessness of 7 days
duration.
Cough was productive, associated with breathlessness
which was sudden in onset, progressed to grade 4.
There was history of recurrent respiratory tract
infections.
At 7 months of age the child was diagnosed at a private
hospital to have a congenital heart disease.
He was the first child born by LSCS to non-
consanguinous couple.
3. 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.
The history of NS begins with a woman
named Dr. Jacqueline Noonan.
Dr. John Opitz 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.
4. It used to be referred to as the male version of
TURNER’S SYNDROME (and is still sometimes
described in this way); however, the genetic causes of
Noonan syndrome and Turner syndrome are distinct.
5. Incidence
It is believed that between approximately 1 in 1,000
and 1 in 2,500 children worldwide are born with NS.
It is one of the most common genetic syndromes
associated with congenital heart disease, similar in
frequency to Down syndrome.
However, the range and severity of features can vary
greatly in patients with NS. Therefore, the syndrome is
not always identified at an early age.
6.
7. TYPES
Based on the gene in which mutation has occurred,
NS is of 5 types:
1. NS 1 – PTPN 11 – a gene on chromosome 12q24.1 which
nc encodes pr otein tyrosine phosphatase
SHP- 2.
2. NS 2 – Unknown (autosomal recessive)
3. NS 3 – KRAS
4. NS 4 – SOS 1 – a gene that positively regulates n
Ras/MAP kinase Pathway.
5. NS 5 – RAF 1- less common type.
8. CLINICAL MANIFESTATIONS
The clinical features the child would have
Cardio-vascular System:
Pulmonary Valvular Stenosis
Septal defects- Atrial and Ventricular
Hypertrophic cardiomyopathy
9. Gastro-Intestinal System :
Decreased appetite.
Frequent vomiting.
Failure to thrive.
Intestinal malrotation.
