Upper and lower motor neuron involvement as presenting manifestation of Triple A syndrome

Triple A syndrome is a very rare autosomal recessive disorder, characterized in its classical form by a triad of achalasia of the cardia, alacrima and adrenal insufficiency. In most cases a wide range of neurological signs and symptoms indicating an involvement of central, peripheral and autonomic nervous systems has been described. Multisystem neurological disease is very rare in childhood and its onset is generally delayed to the second decade of life and is typical of adulthood. We describe the case of a young boy, in which Triple A syndrome presented itself as a neurological disease at the age of seven years, and the other main clinical symptoms occurred later