PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?
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 dise...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-07-01
|
| Series: | Pediatric Rheumatology Online Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12969-022-00707-5 |
| _version_ | 1818510617238044672 |
|---|---|
| author | Bethany Gillies Whiteside Hannah Titheradge Eslam Al-Abadi |
| author_facet | Bethany Gillies Whiteside Hannah Titheradge Eslam Al-Abadi |
| author_sort | Bethany Gillies Whiteside |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T23:22:25Z |
| format | Article |
| id | doaj.art-b0de5935a3194a85ba497f0f63b80b51 |
| institution | Directory Open Access Journal |
| issn | 1546-0096 |
| language | English |
| last_indexed | 2024-12-10T23:22:25Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Pediatric Rheumatology Online Journal |
| spelling | doaj.art-b0de5935a3194a85ba497f0f63b80b512022-12-22T01:29:41ZengBMCPediatric Rheumatology Online Journal1546-00962022-07-012011910.1186/s12969-022-00707-5PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?Bethany Gillies Whiteside0Hannah Titheradge1Eslam Al-Abadi2Birmingham Women’s and Children’s NHS Foundation TrustBirmingham Women’s and Children’s NHS Foundation TrustBirmingham Women’s and Children’s NHS Foundation TrustAbstract 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.https://doi.org/10.1186/s12969-022-00707-5PAMIPAIDPSTPIP1PAPAAutoinflammatoryPerinatal |
| spellingShingle | Bethany Gillies Whiteside Hannah Titheradge Eslam Al-Abadi PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? Pediatric Rheumatology Online Journal PAMI PAID PSTPIP1 PAPA Autoinflammatory Perinatal |
| title | PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? |
| title_full | PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? |
| title_fullStr | PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? |
| title_full_unstemmed | PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? |
| title_short | PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement? |
| title_sort | pstpip1 associated myeloid related proteinaemia inflammatory pami syndrome a case presenting as a perinatal event with early central nervous system involvement |
| topic | PAMI PAID PSTPIP1 PAPA Autoinflammatory Perinatal |
| url | https://doi.org/10.1186/s12969-022-00707-5 |
| work_keys_str_mv | AT bethanygillieswhiteside pstpip1associatedmyeloidrelatedproteinaemiainflammatorypamisyndromeacasepresentingasaperinataleventwithearlycentralnervoussysteminvolvement AT hannahtitheradge pstpip1associatedmyeloidrelatedproteinaemiainflammatorypamisyndromeacasepresentingasaperinataleventwithearlycentralnervoussysteminvolvement AT eslamalabadi pstpip1associatedmyeloidrelatedproteinaemiainflammatorypamisyndromeacasepresentingasaperinataleventwithearlycentralnervoussysteminvolvement |