Extremely elevated cerebrospinal fluid protein levels in a child with neurologic symptoms : beware of haemophagocytic lymphohistiocytosis
Faculty of Medicine and Health Sciences
European journal of paediatric neurology. - London
, p. 427-429
University of Antwerp
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. (C) 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.