DiGeorge syndrome - causes , symptoms and complications

Digeorge syndrome ( dgs)

Brain computer tomography cuts of the patient,

demonstrating basal ganglia and periventricular calcification

What is Digeorge syndrome ???

DiGeorge syndrome is a disorder caused by a defect in chromosome 22, which hinder the development of several body systems.

Before that tremendous progress in genetics, Digeorge syndrome was known by many names like

Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia .

Now , "22q11.2 deletion syndrome" is frequently used which is more accurate , but old names are still used

How does DiGeorge syndrome occur   ?

Everyone has two copies of any chromosome . any chromosome contains 500-800 genes . DiGeorge syndrome happens when a part of chromosome 22 is deleted.

In fetus who has DiGeorge syndrome one copy of chromosome 22 is imperfect and so about 30-40 genes are missed .That part is known as 22q11.2.

That process occurs randomly whether in the mother egg or in the father sperm, or it may be early during baby development.

symptoms and signs of DiGeorge syndrom

Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.Signs and symptoms of DiGeorge syndrome can vary significantly in type and severity.This variation depends on what body systems are affected and how severe the defects are.

This may include: Failure to thrive, Failure to gain weight, Poor muscle tone, Shortness of breath,Twitching or spasms around the mouth, hands, arms or, Frequent infections, Difficulty feeding , Delayed development, such as delays in rolling over, sitting up or other infant milestones, Delayed speech development, Learning delays or difficulties, A gap in the roof of the mouth (cleft palate) or other problems with the palate, Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in the upper lip

But how can DiGeorge syndrome be diagnosed ?

Diagnoses of DiGeorge syndrome is based mainly on laboratory tests.

Some heart deects are common in DiGeorge syndrome, so presence of these defect may prompt the doctor to order a laboratory test to chromosome 22.

DiGeorge syndrome and complications

So many complications can occur according to the role was supposed of that deleted part in baby body system. We cannot expect these complications, but common one are:

* Cleft palate*

Cleft palate is an open in the roof of the mouth, so can make the patient suffers from difficulty in swallowing.

* Thymus gland dysfunction *
In children with DiGeprge syndrome thymus gland may be small or missing wiche resulting in poor immunity and frequent sever inections . HOW?
The thymus gland in children, located beneath the breastbone, is where T cells — a type of white blood cell — mature. Mature T cells are needed to help fight infections. As you grow older, the thymus decreases in size, and other parts of your body take over the role of the thymus in the immune system.

* Hypoparathydoidism *
Parathyriod hormone (PTH) is secreted by parathyroid gland located in our nick. That hormone is responsible for maintaining appropriate levels of calcium and phosphorous in our body. DiGeorge syndrome can result in smaaler parathyroid gland, so too little PTH is secreted.
Hypoparathyroidism results in low calcium level and high phosphorous level in the body.

* Heart deects *

A common comlication o DiGeorge syndrome that result in an insufficient supply of oxygen to the body systems.

Defects may include a hole between the lower chambers of the heart (ventricular septal defect); only one large vessel, rather than two vessels, leading out of the heart (truncus arteriosus); and a combination of four abnormal heart structures (tetralogy of Fallot)

* Autoimmune diseaes*

Having small or missing thyms gland, resuluts in high risk of autoimmune diseases like rheumatoid arthritis and Graves disease (http://en.wikipedia.org/wiki/Graves'_disease )

* Social promblems *

The part deleted of chromosome 22 may cause developmental and functional problem in brain.
Many children with DiGeorge syndrome suffering from autism and attention-deficit/hyperactivity disorder (ADHD). Delays in toddler speech development and learning difficulties are common.
When patient be older, he may suffer of mental disorders like depression, anxiety disorders, schizophrenia and other psychiatric disorders.

Is there any treatment for DiGeorge syndrome ?

Honestly, there is no cure for DiGeorge syndrome, only we can manage the symptoms such as :

Cleft palate & heart defects

they have to be surgically treated.

Thymus dysfunction

Treatment may require a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells if thymus gland is missed.

But in case of mild thymus dysfunction, frequent infections are treated as they would be in any child and they have to follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function will improve as they grow older.

Hypoparathyroidism

Can be managed with calcium supplements, vitamin D supplements and a low phosphorus diet. If enough of the parathyroid tissue is intact, it's possible the child's parathyroid glands will eventually regulate calcium and phosphorus levels without a specialized diet.

At the end we have to know that if we have such a child, we should praise God and thank him for his test to admit us to his Paradise.

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