0000000000513886
AUTHOR
Irene Bona
Cocleo-labirintopatie nel bambino. Come non perdere l'equilibrio.
Cochleo-labyrinthopathy (CL) is an affection that involves cochlea and vestibular system. It occurs with the association of auditory symptoms (sensorineural hearing loss and tinnitus), vestibular symptoms (objective vertigo, unidirectional horizontal-rotary nystagmus and static or dynamic balance disorders) and neurovegetative signs (nausea, vomiting, pallor, sweating, etc.). The diagnosis may be difficult in paediatric age since the child is unable to clearly express their discomfort and symptoms. Multiple causes have been recognized but, in acute cases, infection is the most frequent etiological agent. The paper describes a case of CL due to Herpes Virus 1-2 infection responsive to acyclo…
Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici
The case of an infant diagnosed with Autistic Spectrum Disorders (ASD) associated to a maternal segregated micro duplication (Xp21.2 region involving IL1RAPL1 and NR0B1 genes) is described. The role of the genetic test in approaching the diagnosis and the therapy of ASD is discussed.