Variable Phenotype in Three Siblings With RAN Binding Protein 2 Variant With Potential Preventive Treatment for Recurrences.
Muhammad Talal Alrifai, Maha A Rizq, Ahmad H Bali et al.
✦ AI-curated · Sources linked
Case in brief
This case series describes three siblings from a nonconsanguineous family, all with a pathogenic RANBP2 variant linked to familial acute necrotizing encephalopathy (ANE1). The first sibling, a 40-month-old boy, progressed to brain death after influenza A-associated encephalopathy. In contrast, a five-year-old girl improved with corticosteroids, and a 39-month-old boy remained neurologically intact. The latter two received preventive pulse steroid treatment during viral infections, showing no new episodes at follow-up.
What made this case unusual
Despite sharing the same genetic variant, the siblings exhibited markedly different clinical outcomes, highlighting the phenotypic variability associated with RANBP2 mutations.
Diagnostic / clinical pearl
Clinicians should be aware of the significant phenotypic variability in familial acute necrotizing encephalopathy, even among siblings with the same genetic mutation.
Why it matters
The use of pulse steroids during influenza infections may be a potential strategy to prevent encephalopathy recurrences in patients with ANE1.