title: 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.affiliation: University of Antwerp, Antwerp University Hospital, Department of Paediatrics, Belgium.
authors.forename: Michiel
authors.initials: M
authors.lastname: Voeten
authors.affiliation: University of Antwerp, Antwerp University Hospital, Department of Paediatric Haematology and Oncology, Belgium.
authors.forename: Philip
authors.initials: P
authors.lastname: Maes
authors.affiliation: University of Antwerp, Antwerp University Hospital, Department of Paediatrics, Belgium.
authors.forename: Marek
authors.initials: M
authors.lastname: Wojciechowski
authors.affiliation: Maria Hospital Overpelt, Department of Paediatrics, Belgium.
authors.forename: Luc
authors.initials: L
authors.lastname: Vandenbossche
authors.affiliation: Catholic University of Leuven, University Hospitals Leuven, Department of Microbiology and Immunology, Department of Paediatrics, Belgium.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
authors.affiliation: University of Antwerp, Antwerp University Hospital, Department of Paediatric Neurology, Belgium. Electronic address: Berten.Ceulemans@uza.be.
authors.forename: Berten
authors.initials: B
authors.lastname: Ceulemans
mesh_terms: D002556:Cerebrospinal Fluid Proteins / Q000134:cerebrospinal fluid*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004660:Encephalitis / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male
chemical_list: D002556:Cerebrospinal Fluid Proteins
keywords: Acute disseminated encephalomyelitis; Central nervous system; Cerebrospinal fluid protein; Encephalitis; Haemophagocytic lymphohistiocytosis; X-linked lymphoproliferative disease