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PAMI syndrome: A rare cause that can be easily misdiagnosed
Author(s) -
Xu XueMei,
Huang Hua,
Ding Fei,
Yang Zhen,
Wang Jian,
Jin YanLiang
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62367
Subject(s) - medicine , hepatosplenomegaly , congenital neutropenia , anemia , neutropenia , missense mutation , failure to thrive , anakinra , etanercept , rituximab , pediatrics , dermatology , gastroenterology , rheumatoid arthritis , lymphoma , mutation , chemotherapy , biochemistry , chemistry , disease , gene
PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome caused by mutations in PSTPIP1 is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory indicators. This study describes the cases of two pediatric female patients with long‐standing recurrent arthralgia in different parts of the extremities and severe anemia, respectively, who were misdiagnosed and treated for aseptic necrosis of the femoral head and severe autoimmune hemolytic anemia, respectively. High‐throughput sequencing analysis revealed a de novo heterozygous missense mutation (c.748G > A, p. Glu250Lys) in exon 11 of PSTPIP1 (NM_003978.5) in both patients, which supported a diagnosis of PAMI. The patients were treated with prednisone and etanercept, which improved their symptoms, but neutropenia remained unchanged. These cases highlight the importance of genetic assessment for the accurate diagnosis of PAMI and to ensure adequate and timely treatment of these patients.