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Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations
M Goyal1, M L Cohen, B A Bangert
1Division of Pediatric Neurology, Division of Rainbow Babies and Children's Hospital, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, OH, USA. Monisha.Goyal@uhhospitals.org
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.
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