Abstract
BACKGROUND: 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 review the differences between the PSTPIP1-associated inflammatory diseases (PAID) phenotypes and genotypes.
CASE PRESENTATION: The patient was found to have a heterozygous pathogenic variant in PSTPIP1 (c.748G > A p.E250K). This variant was shown to be absent in both parents and therefore de novo in the patient. A literature review was carried out through multiple databases using the terms PSTPIP1, PAID, PAPA syndrome and PAMI syndrome. This information was collected and used to form comparisons between the current literature and our reported case.
CONCLUSIONS: Our case contributes to the literature on PAMI syndrome whilst providing an example of a potentially unique clinical phenotype, giving insight into the pre-symptomatic phase of the condition. We highlight the importance of considering PAMI syndrome in the differential for early onset unexplained inflammation. In addition, we explore the possibility that perinatal neurovascular events could be an early feature of PAMI syndrome.
Original language | English |
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Article number | 49 |
Journal | Pediatric Rheumatology |
Volume | 20 |
Issue number | 1 |
DOIs | |
Publication status | Published - 15 Jul 2022 |
Bibliographical note
Funding Information:We thank the parents of our described patient for allowing us to share her case
Publisher Copyright:
© 2022, The Author(s).
Keywords
- Acne Vulgaris/genetics
- Adaptor Proteins, Signal Transducing/genetics
- Arthritis, Infectious/genetics
- Central Nervous System
- Cytoskeletal Proteins/genetics
- Female
- Humans
- Mutation
- Phenotype
- Pyoderma Gangrenosum/genetics
- Syndrome
- PAPA
- PAMI
- Perinatal
- PAID
- PSTPIP1
- Autoinflammatory
- Fetal distress
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Rheumatology
- Immunology and Allergy