Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.
case_report · Level V
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Abstract
Rasmussen syndrome (RS) is a clinical diagnosis characterized by persistent focal seizures in a previously healthy child. Occasionally, the typical features of RS may be followed by another diagnosis. We discuss the course of a 12-year-old girl who presented with RS but was later diagnosed with CNS granulomatous disease and NOD2/CARD15 mutations. Her response to infliximab suggests that it should be included in immune-modulatory therapies used to treat these refractory disorders.
Medical subject headings
- Encephalitis
- Granulomatous Disease, Chronic
- Mutation
- Nod2 Signaling Adaptor Protein