Arianna C.

Arianna C. (Italy)

Arianna is born on 5 November 1995 (only child) by spontaneous birth.

with the following parameters:

    * Weight kg. 3.150
    * Lenght m. 0.52
    * Cranial Circumference m 0.35
    * Apgar’s score 8/9.

His parents are in good health, not consanguineous and there is not other equivalent desease in the respective families.
When Arianna is 20 days old starts with a strange wryneck which continues for 24-36 hours and after disappears, this wryneck repeats itself again the following week.

It is diagnosed as a benign paroxysmal torticollis.

Now Arianna is 3 months old we begin to see the first retardations, indeed she does not yet hold up her head, smiles very little, is very irritable and is too little interested to the objects and people.

At the age of 5 months the child is subjected to NMR and CT at the brain in a children hospital where is diagnosed the demyelination with a diffusion hiperintensity of the white matter, small calcifications in the basal ganglia (bilateral), a very strong irritability, frequent myoclonias in the audiology either spontaneous or caused of noises (kind not convulsive).

After the exclusion of a series of metabolic deseases and leukodystrophies (Krabbe, Metacromatic, etc) the neurologist Dr Bertini diagnoses the AICARDI-GOUTIERES SYNDROME.

We report below the results of more significative tests:

LIQUOR (Spinal fluid):

    * Protein = 231 mg./dl (at 6 months of life)
    * Protein = 39 mg./dl (at 16 months of life)
    * alpha-interferon = 25 UI/ml. (at 17 months of life in the Hospital Saint Vincent de Paul in Paris)

Today we are still effecting genetic investigations on the blood samples of the child and parents always at the Hospital Saint Vincent de Paul in Paris.

In the meanwhile Arianna’s conditions are always, slowly improved, she has never taken medicinal substances, she has never lost or deteriorated the acquired functionalities.

The myoclonias in the audiology are almost disappear and with it also the irritability and nystagmus in the eyes.

Now, she is very interested at all what is around her, is able to control better the head and the trunk.

Only since a few time she coordinates the movements of the hands which is able to bring to the mouth, she takes the objects with the hands and is able to bring it up to mouth and to do falling down.

She recognizes the people and is able to communicate when she is happy or not to do a thing vocalizing the sounds too.

In spite of the severe psychomotor retardations Arianna is a very happy child, she loves to stay with the other children and frequents regularly the children-school.