NOONAN SYNDROME AND ADENOVIRUS 36 AND OBESITY

Noonan Syndrome and Adenovirus 36 and

Obesity in Children and Adolescents

Noonan Syndrome and Adenovirus 36 and Obesity in Children

Noonan syndrome

Noonan syndrome affects at least one in every 2,500 children. Several studies identified families where the syndrome appeared in several members, under a vertical transmission, with characteristics different from each other and even skipped generations (irregular dominance), but with a predominance of maternally inherited. This established a pattern of autosomal dominant, which means that these cases would require the presence of the mutation and the genes of one parent, and that this mutation would be passed on to offspring with a 50% probability, but in this disease the likelihood that once present is expressed would be 14%. The fact that some children do not have a parent with Noonan syndrome reflects the possibility of sporadic occurrence, i.e. the presumed presence of a new mutation, not present in the genes of the parents. In the last few years have identified the locus where is located the gene that determines the phenotype of at least a large percentage of people with S. Noonan and is situated in 12q24 (Jamieson). At the site of the genetic map is the first specific gene identified as possible responsible for Noonan syndrome, called PTPN11 (Parsons, 1999).

Symptoms

Anomalies that are most frequently included are: membrane formation in the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities and congenital heart disease (especially pulmonary stenosis). In colloquial language, the most typical anomalies of Noonan syndrome are:

Short stature

Wide neck

Heart disease (heart disease), pulmonary stenosis is the most common

Hypertelorism (increased separation of the eyes)

Malformations of the sternum with pectus carinatum (pectus carinatum) and excavatum (funnel chest)

Chest width

Separate and lower breast

Pterygium colli (fold the outer edge of the neck that ranges from the implementation of the ears to the shoulders) and pterygium axillary (armpit cutaneous membrane)

Typical appearance of the face with philtrum (groove down the middle of the upper lip)

Marked palpebral fissures antimongoloid

Arched palate (palate in a dome shape)

Micrognathia (unusually small jaws)

Dysplastic ears (dysplasia is abnormal development of tissues or organs), set low and rotated

Folds in the skin of the neck

MPLEMENTATION low hair at the back

Heavy eyelids

Epicanthus (extra skin folds at the inner corners of eyes)

Exophthalmoses (abnormal protrusion of the eyeball) and ptosis (drooping eyelids)

Often have malformations of the heart and hyperplasia (incomplete development or defect) or aplasia (lack of development) of blood and lymph vessels, abnormal platelets and coagulation factors of blood and malignant hyperthermia. Mild mental retardation occurs in approximately 25% of cases and variable hearing loss. Delay usually occurs in puberty and men may have undescended testicles and small penis (Reilly, 2003).

Treatment

The diagnosis of Noonan syndrome is fundamental clinical disease: diagnosed as such to anyone who meets the phenotypic characteristics that define this syndrome. A simple physical examination, may show an extra fold of skin above the eyes (epicanthal folds) that may also appear inclined (anti-mongoloid palpebral slant), or any other facial or body abnormalities of this ...