Diego O.

Diego O. (Italy)

Diego is born on 5 March 1998 by spontaneous birth at the 39 th gestation week,

with the following parameters:

Weight kg. 3.160
Lenght m. 0.49

Cranial Circumference m 0.35
Apgar's score 10
His parents are in good health, not consaguineous and the mother (35 years old) during the gestation did all the usual clinical tests including pulse echo diagnosis, virus tests and amniocentesis test, all with negative result.
Furherly, Diego has a sister in good health 6 year older.

Up to 2 and half months the growth is regular all is perfect but later the baby has a strong otitis with fever crisis which repeat it every eight days.

The child is forced by antibiotic therapy but the fever continues to repeat itself every eight days during the following month. At this point we decide to hospitalize him in a children's clinic.

Diego is subjected to some generic tests at the end an urinary system infection and otitis is diagnosed and for this reason the baby is forced to intramuscular antibiotic therapy.

In the same time and in spite of the antibiotic therapy the fever appears again so the antibiotic therapy goes up to 11th day and soon the baby is discharged.

Now Diego is 3 months old and in spite of any therapies the crisis' fever continue to repeat itself in a regular way, exactly every eight days.

The fever is never over 38° it goes on for three days and it is accompanied to little intestinal problems.

During the fever period Diego has a faraway look, he often sleeps and doesn't eat anything. When the fever is over the baby is nervous and continually cries for two days he appears pained of some unspecified pain so we think to be griping pain.

After these five days (three of fever and two of general tightness) Diego comes back to be more present and more quite.

Spending the time we begin to see a psychomotor retardation.

Now Diego is four months old but he does not yet hold up the head and does not yet smile. Consequently we decide to hospitalize the baby a second time in the same children's clinic for other tests, in this case Diego is supported by immunologist and neurologist.

At this point the investigation moves towards neurological field, for this reason Diego is subjected to NMR and several metabolic tests.

All these tests are again negative, any trouble in the immunologic parameters is evident, instead by NMR is evident a dilatation in the ventriculi cerebri but this situation is not considered significative, in the same time the clinical tests regarding a possible metabolic desease go on.

When Diego is discharged we decide to begin a physiotherapy treatment. Meanwhile the frequency of the fever crisis begin to reduce up to disappear at the age of eight months (without therapies) however an irritability condition remains and the growth of the cranial circumference begins to slow down.

At this point we believe that the baby is ill of unindentified metabolic desease and so we decide to hospitalize Diego in a neurologic clinic to take new tests. During this new admission the NMR is repeated and for the first time a CT scan is made the results are:

Atrophy of the brain
Little calcifications of the basal ganglia of the brain
The neurologists think that the above situation could be the result of a prenatal virus infection but all the following virus tests are negative therefore we begin the tests for a possible Aicardi-Goutieres Syndrome diagnosis.
Then the Aicardi-Goutieres Syndrome will be confirmed by alpha-interferon wich results 150 instead less than 2 and by CSF lymphocytosis (elevated levels of white blood cells in the spinal fluid). In this period begin to appear little cutaneous erythema on the external side of the ears (this little injuries are difficult to cure).

Finally, the baby is discharged the diagnosis is: Aicardi-Goutieres Syndrome.

Diego is now eight months old.At this point considered that no therapy exists for our baby we think that it is convenient to register him for a phisiotherapy and logopaedia course in a specialized institute. The year after when the Diego is one year old he is examined by Prof. Aicardi who confirm the diagnosis.

Today Diego is two years old he has learnt to smile, to laugh, he hold up a little the head and tries to stand up.He recognizes the parents, the relatives and he is very happy for the presence of the sister and the other children.

However, he doen't talk, he doen't walk and he is in difficulty to sit down without supports. The Diego's future is an history completely to write but we parents ourselves will not give up because we are sure that with the help of the Scienze and the God something good for Diego could be done.