A four-year-old child who suddenly developed a fever and a rash when two months old was confirmed a year later to have a rare autoinflammatory disease called cryopyrin-associated periodic syndrome, the first such case in Taiwan.
The child, whose disease was confirmed by genetic testing, was cured soon after the correct diagnosis was made, National Taiwan University Hospital pediatrician Yang Yao-hsu (楊曜旭) said on Monday.
The disease usually affects children and causes inflammation in the organs, the nervous system and joints.
In serious cases, a patient might suffer fever or chills, a rash, joint pain, sore eyes, deafness and fatigue. If the condition worsens ,it can be life-threatening.
Yang said that the disease strikes about one in a million people and because of its rarity, doctors often are not vigilant enough to detect it, leaving patients searching for diagnoses in one hospital department after another.
A Taiwanese biopharmaceutical company developed a genetic testing kit five years ago that can correctly diagnose the disease.
With a correct diagnosis and the right medicine, a patient can recover completely, as was the case with the four-year-old child, Yang said.
The child received injections of a medicine manufactured by Novartis International AG and all the symptoms disappeared within 24 hours, Yang said.
The child continued to take the medication for another year to prevent a reoccurence of the disease, Yang added.
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