0000000000513887
AUTHOR
Claudia Sciarrotta
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.
Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”
The incidence of multiple pregnancy has increased, particularly because of the advances in assisted reproductive technologies. Multiple gestations are high risk pregnancies, especially the monochorionic ones. Two/thirds of initially twin pregnancies result in singles at birth, a condition defined as vanishing twin syndrome. The intrauterine death of one of the twins can cause direct fetal damage to the surviving one on several levels. The paper describes the case of a child born from twin pregnancy that was interrupted for one of the co-twins at early second trimester of gestation who presented with aplasia cutis congenita.