Diagnosed in Pisa very rare genetic disease of a newborn from Catania

PISA – A very rare genetic disease, which affects 5 thousand people worldwide, has been diagnosed in a six-month-old baby, thus allowing the little one to be taken into care for the treatments necessary to have a new future. This is thanks to the Irccs Stella Maris of Calambrone (Pisa), which thus confirms itself as the Italian center of excellence for child neuropsychiatry.

The team of neuromuscular-neurodegenerative and rare genetic diseases, directed by Professor Roberta Battini, explains a note, has in fact diagnosed and taken care of the little one, coming from the province of Catania, suffering from Aromatic L-amino acid decarboxylase deficiency (Aadc) , a disease that interferes with the communication between neurons in the nervous system.

«The child was hospitalized with us from January 15th to 21st. On February 4th we already had the diagnosis – says Battini -. The estimated cases of AADC deficit in the world are 5 thousand, with an incidence on live births of one in 40 thousand globally. Medicines are available to manage the symptoms, but specific drug therapy compensates for the metabolic deficit avoiding worsening. There is currently no cure for the disease, even if gene therapy is upon us ».

For Batini, “the important point of this, as of other rare diseases, is early diagnosis: the sooner we understand the diagnosis and take care of the child, the fewer complications we will have on his neurodevelopment, and the more we will be able to change the outcome”.

For Maria Anna Libranti, the child’s pediatrician, «diseases are recognized if they are known. We family pediatricians have, first of all, the task of recognizing normality in children’s development, with the aim of intercepting pathological changes in development. After having intercepted and recognized the complexity of the case, we sent the family to Irccs Stella Maris in Calambrone (Pisa), the Italian center of excellence for child neurology-neuropsychiatry ».