Mirko G.

Mirco G. (Italy)

Mirko is born on 9 July 1996 at the 40th gestation week,

after a normal and without problems pregnancy,
with the following parameters:
Weight kg. 4.160
Lenght m. 0.51
Cranial Circumference m 0.34
Apgar’s score 10.
Mirko has got and older sister.

His parents are in good health and have had never similar cases in their families which live in this area
since five generations.

When Mirko is six days had a fever (38°-39°) which continues for three days.

At this point the baby is hospitalized but the tests reveal just a transaminase value lightly out of the


These febrile episodes go on for three months.

Since Mirko is two months begins to cry continually and this one is explained as the gas gripes while in the
same time the baby gives sudden starts to the noises; this situation goes on for two months.

Now Mirko is three months and we start with a series of tests to understand ‘why’ the transaminase value is
 high and the reason for which Mirko cries continually.

The results of the tests were all negative (just a smaller and semi-closed fontanelle).

At the 4th month of life Mirko had some critical episodes characterized by blackout of consciousness,
hypertonicity, eyeball revulsion.

These clinical evidences are increased in the following times passing from a single episode every 15 days
to 10 episodes in a day.

At the 5th month Mirko is subjected to a CT scan from which are revealed several calcifications widespread
in the basic nuclei, bilateral thalamus and cortical-subcortical junctions in both cerebral hemispheres.

There is an apparent hypodensity in the periventricular white matter and an increase of the ventricular
system and the subaracmoides spaces of atrophic kind.

There is no evidence of significant alterations in the rear part.

Further tests were made at the ‘’Istituto Stella Maris’’ by Prof. Cioni and Dott. Biagioni who cures Mirko.

In the following months we started with a long series of tests at the ‘’Istituto G. Gaslini’’ which excluded
several methabolic deseases and leucodistrophies (Krabbe, Metacromatica ecc.).

Later, by interferon-alpha test on liquor effected at the ‘Hopital Saint Vincent de Paul de Paris’ was
diagnosed the desease of Mirko:


The interferon-alpha level was 12 UI/M.L. (Mirko was 16 months).

This diagnosis was later confirmed by Dott. Bertini (Bambin Gesù neurologist).

At the ‘Hopital Saint Vincent de Paul’ are still doing genetic investigations on blood samples of Mirko,
of his sister and of the parents.

Today Mirko’s conditions are always critical either in the motorial side or in the neurological side, indeed
he doesn’t control the trunk, the head, he doesn’t take the objects with the hands, he sees only the light
sources and strong colours, he perceives the source of a voice or noise turning the head from the correct side.

Mirko is fear sudden or non-stop noises, so for this reason, he cannot frequent the children-school.

He frequents a rehabilitation center where he practices a light immobilization physiotherapy.

Mirko is cared by Prof. Pierro either in the physiotherapy or in the posture.

Mirko assumes some drugs (Sabril, Sirdalud, Valium) to reduce the epilepsy, the apnoeas and the rigidity of
the muscles.

Furthemore he has got the "chilblains" on the hands, feet and ears not only during the winter but in the hot
months too.

Mirko is a very sweet child, the most part of the day he lives on the arms of his parents where feels the
contact of the body.

He is quite, he laughs while plays, he recognizes the voice of the parents and the cuddles of his sister.

Mirko is very careful of what happens around.