Extremely elevated cerebrospinal fluid protein levels in a child with neurologic symptoms: beware of haemophagocytic lymphohistiocytosis.

Abstract

Neurologic symptoms can be the initial manifestation of haemophagocytic lymphohistiocytosis (HLH). In this case study, we present a 3-year old boy with a clinical picture of encephalitis, a cerebrospinal fluid (CSF) protein level up to 1165 mg/dl and diffuse cerebral MRI abnormalities. The diagnosis of HLH was established only 6 weeks after initial presentation. The boy recovered after HLH therapy with persisting mild cognitive defects. Genetic investigation demonstrated X-linked lymphoproliferative disease (XLP) as the underlying cause of HLH. The extremely elevated protein level in CSF in this case has not yet been reported in patients with HLH.

• Authors: Michiel Voeten, Philip Maes, Marek Wojciechowski, Luc Vandenbossche, Isabelle Meyts, Berten Ceulemans
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 18 Issue 3 Pg. 427-9 (May 2014) ISSN: 1532-2130 [Electronic] England
• PMID: 24433830 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Cerebrospinal Fluid Proteins

Topics

• Cerebrospinal Fluid Proteins (cerebrospinal fluid)
• Child, Preschool
• Diagnosis, Differential
• Encephalitis (cerebrospinal fluid, diagnosis)
• Humans
• Lymphohistiocytosis, Hemophagocytic (cerebrospinal fluid, diagnosis)
• Magnetic Resonance Imaging (methods)
• Male