Case History: Florencia Pilar Maddalena

Uruguay, Argentina

Was born in February 9th, 1993, in Concepción del Uruguay, Province of Entre Ríos, Republic of Argentina. She had a clinical picture of infantile Refsum’s disease, with severe visual and hearing involvement and mental deficit. From the physical point of view, her development was quite normal. Since very early, she has been treated with stimulation techniques in different special educational centers, official as well as private.

At eight years of age, after having a crisis of seizures, Florencia was evaluated at the National Center of Medical Genetics by Dr. Liliana Alba. This doctor ordered a neurometabolic screening, the result of which confirmed the diagnosis.

We were informed that there was a treatment for this peroxisomal disorder, whose responsible was Dr. Manuela Martinez, at the Valle de Hebron Hospital in Barcelona, Spain. We contacted Dr. Martinez, who agreed to initiate the treatment for our daughter. So we traveled with Florencia to Barcelona, Spain, in April 2002 for a first evaluation of our girl.

Florencia was subjected to a series of medical examinations in order to confirm the diagnosis, and also to get a direct, general impression of her clinical state. Then we started the treatment with the oral administration of the fatty acid DHA, at daily doses of 200 mg.

Today, on June 25th, 2003, and after several periodical blood controls performed by Dr. Martinez (we send blood samples from Argentina by air, approximately, every 45 days), the biochemical results are quite promising. Florencia’s plasma phytanic acid has decreased to about 50% its pre-treatment level. This gives us reason to believe that the progressive character of her disease has come to a halt.

From the familiar-teaching points of view and considering the daily contact with our daughter, we must add that we have detected important changes in her behavior and physical development. We have noticed that Florencia has a marked interest in other people. More and more, she wants to be near us or her teachers in order to do body contact games, like caresses, kisses, hugs, and enjoying them. She also answers when she hears her name with various guttural sounds or smiles, trying to localize the sound source. Another important achievement is the increase in the time she dedicates to walk, since she goes from home to the school every day, walking about ten blocks. Her character has become more docile and her periods of bad mood and fits of temper have diminished.