Familial acute necrotizing encephalopathy temporally associated with SARS-CoV-2 infection
Medicine·
- DOI
- 10.1097/md.0000000000050329
- PMID
- —
- PMCID
- —
- OpenAlex
- —
- Study type
- Journal article
- Publisher
- Ovid Technologies (Wolters Kluwer Health)
- Article type
- journal-article
- Integrity
- current
Why this research matters now
The familial clustering suggests that genetic factors beyond RANBP2 may predispose individuals to ANE following COVID-19. Early recognition of neurological deterioration and prompt MRI evaluation may enable timely immunomodulatory treatment.
Structured evidence summary
Research question
This case report examines whether genetic susceptibility factors beyond RANBP2 mutations contribute to acute necrotizing encephalopathy (ANE) following SARS-CoV-2 infection, using familial clustering as evidence.
Study design
Retrospective case report of two siblings who developed ANE after laboratory-confirmed SARS-CoV-2 infection in December 2022. Brain MRI, genetic testing for RANBP2, and exclusion of alternative diagnoses were performed.
Population and setting
Two siblings (an 18-year-old woman and her 24-year-old brother) who developed neurological deterioration following COVID-19 infection. Both presented with altered consciousness and underwent brain imaging and genetic analysis.
Main findings
Both siblings developed ANE characterized by bilateral symmetrical brain lesions on MRI after SARS-CoV-2 infection. No pathogenic RANBP2 variants were identified. Both achieved partial neurological recovery with immunomodulatory therapy, though residual impairment persisted at short-term follow-up.
Public-health relevance
The familial clustering suggests that genetic factors beyond RANBP2 may predispose individuals to ANE following COVID-19. Early recognition of neurological deterioration and prompt MRI evaluation may enable timely immunomodulatory treatment.
Important limitations
This summary relies on a single retrospective case report of two siblings, which cannot establish causation or generalizability. Genetic analysis was limited to RANBP2, and short-term follow-up precludes assessment of long-term outcomes. The original paper is required for decision-grade interpretation.
GIDS interpretation
The classifier links to SARS, COVID-19, and Treatment indicate this article may be discovered through queries about COVID-19 neurological complications or treatment of parainfectious encephalopathy. These links reflect indexing categories and do not confirm a surveillance signal.
Related GIDS surveillance
Literature context does not validate, explain, or change a surveillance signal. Exact and contextual relationships are shown separately.
Evidence relationships
This article has 7 auditable classifier relationships to diseases, places, topics, and study design.