Population
9-year-old Caucasian female with recurrent acute necrotizing encephalopathy (ANE) and her mother
Design
Case_report
Authors
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Recurrent ANE with polyneuropathy may prompt RANBP2 testing; this case report leaves open broader phenotypic and population implications.
Recurrent acute necrotizing encephalopathy or an expanded clinical phenotype like peripheral polyneuropathy should raise suspicion for ANE1, which can occur via de novo RANBP2 mutations.
Gika et al. (2009) studied this question.
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