Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease Academic Article uri icon

Overview

MeSH Major

  • Demyelinating Diseases
  • Lymphohistiocytosis, Hemophagocytic
  • Membrane Proteins
  • Mutation

abstract

  • FHLH may present with fulminant demyelinating disease, mimicking ADEM, and without necessarily meeting previously defined clinical and laboratory criteria. We strongly recommend expeditious molecular testing and genetic counseling for FHLH mutations in cases of undiagnosed inflammatory CNS disease in the pediatric population.

publication date

  • January 2009

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1007/s00381-008-0744-z

PubMed ID

  • 19023578

Additional Document Info

start page

  • 153

end page

  • 9

volume

  • 25

number

  • 2