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Key words: Rare disease, Symptoms, Gaucher disease, Cystinosis, Hurler syndrome
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.
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