PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

We report a three-year-old girl with a potentially unique phenotype of perinatal onset and neurovascular features who was found to have PAMI syndrome. We also compare her case to those previously reported and ...

https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-022-00707-5

Source: Pediatric Rheumatology - July 15, 2022 Category: Rheumatology Authors: Bethany Gillies Whiteside, Hannah Titheradge and Eslam Al-Abadi Tags: Case Report Source Type: research