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PUGNI , Lorenza

Last name: PUGNI

First name: Lorenza

2019 (v1)

Publication

Metadata-only

When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease

Pietrasanta, Carlo Minoia, Francesca Torreggiani, Sofia

Systemic inflammation in neonates is attributable to an infection in almost all cases. When inflammation persists, an autoinflammatory disease should be promptly suspected. We report here a case of mevalonate kinase deficiency (MKD) that presented at birth with mild symptoms and signs suggestive for a perinatal infection, together with the...

Uploaded on: April 14, 2023