Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant : A pathogenic variant in NLRP3 causes CINCA/NOMID
© 2023 Wiley Periodicals LLC..
Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well, typically with clear signs and symptoms of an alternative diagnosis. We present a case of an infant whose SDH initially raised the question of AHT, but multidisciplinary evaluation identified multiple abnormalities, including rash, macrocephaly, growth failure, and elevated inflammatory markers, which were all atypical for trauma. These, along with significant cerebral atrophy, ventriculomegaly, and an absence of other injuries, raised concerns for a genetic disorder, prompting genetic consultation. Clinical trio exome sequencing identified a de novo likely pathogenic variant in NLRP3, which is associated with chronic infantile neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID). He was successfully treated with interleukin-1 blockade, highlighting the importance of prompt treatment in CINCA/NOMID patients. This case also illustrates how atraumatic cases of SDH can be readily distinguished from AHT with multidisciplinary collaboration and careful consideration of the clinical history and exam findings.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:191 |
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| Enthalten in: |
American journal of medical genetics. Part A - 191(2023), 12 vom: 15. Dez., Seite 2825-2830 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Koti, Ajay S [VerfasserIn] |
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| Links: |
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| Themen: |
Autoinflammatory disease |
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| Anmerkungen: |
Date Completed 16.11.2023 Date Revised 22.11.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/ajmg.a.63366 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM36047747X |
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| 245 | 1 | 0 | |a Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant |b A pathogenic variant in NLRP3 causes CINCA/NOMID |
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| 520 | |a © 2023 Wiley Periodicals LLC. | ||
| 520 | |a Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well, typically with clear signs and symptoms of an alternative diagnosis. We present a case of an infant whose SDH initially raised the question of AHT, but multidisciplinary evaluation identified multiple abnormalities, including rash, macrocephaly, growth failure, and elevated inflammatory markers, which were all atypical for trauma. These, along with significant cerebral atrophy, ventriculomegaly, and an absence of other injuries, raised concerns for a genetic disorder, prompting genetic consultation. Clinical trio exome sequencing identified a de novo likely pathogenic variant in NLRP3, which is associated with chronic infantile neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID). He was successfully treated with interleukin-1 blockade, highlighting the importance of prompt treatment in CINCA/NOMID patients. This case also illustrates how atraumatic cases of SDH can be readily distinguished from AHT with multidisciplinary collaboration and careful consideration of the clinical history and exam findings | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a CINCA | |
| 650 | 4 | |a NOMID | |
| 650 | 4 | |a autoinflammatory disease | |
| 650 | 4 | |a non-accidental trauma | |
| 650 | 4 | |a subdural hemorrhage | |
| 650 | 7 | |a NLR Family, Pyrin Domain-Containing 3 Protein |2 NLM | |
| 700 | 1 | |a Lanis, Aviya |e verfasserin |4 aut | |
| 700 | 1 | |a Finlayson, Samuel |e verfasserin |4 aut | |
| 700 | 1 | |a Canny, Susan |e verfasserin |4 aut | |
| 700 | 1 | |a Feldman, Elana A |e verfasserin |4 aut | |
| 700 | 1 | |a Miller, Danny E |e verfasserin |4 aut | |
| 700 | 1 | |a Rosenwasser, Natalie |e verfasserin |4 aut | |
| 700 | 1 | |a Scott, Abbey A |e verfasserin |4 aut | |
| 700 | 1 | |a Wong, Stephen C |e verfasserin |4 aut | |
| 700 | 1 | |a Feldman, Kenneth W |e verfasserin |4 aut | |
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