Neurology. 2007 Aug 14;69(7):640-3.

Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.

Goyal M, Cohen ML, Bangert BA, Robinson S, Singer NG.

Source

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

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.

PMID:: 17698784; [PubMed - indexed for MEDLINE]

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