Sintomi comuni per malattie rare: Un approccio generale del pediatra ai pazienti con malattie rare

Translated title of the contribution: Common symptoms for rare diseases

Gianluca Tornese, Valentina Declich, Giovanni Ciana, Federico Marchetti, Egidio Barbi

Research output: Contribution to journalArticlepeer-review


As a rule many patients with rare diseases report their symptoms at first to a paediatrician or to a general practitioner. These are considered "specialists" in the cure of common problems, but also "common" patients and "common" symptoms can hide rare diseases, and therefore the primary care services have the responsibility to recognize and to manage these patients as well. A delayed diagnosis can sometimes compromise seriously the prognosis of the disease, while a timely diagnosis could influence positively the life of the patient. Therefore, even in presence of common symptoms, a paediatrician should be alerted to identify possible "red flags" in order to suspect and consider a rare disease in the differential diagnosis.

Translated title of the contributionCommon symptoms for rare diseases
Original languageItalian
Pages (from-to)230-236
Number of pages7
JournalMedico e Bambino
Issue number4
Publication statusPublished - Apr 30 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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