Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.
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.
Goyal
M
M
Division 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
Cohen
M L
ML
Bangert
B A
BA
Robinson
S
S
Singer
N G
NG
D002648:Child; D003937:Diagnosis, Differential; D004660:Encephalitis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein