BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare multisystem congenital disorder characterized by uncontrolled proliferation and infiltration of activated lymphocytes and histiocytes, secreting high amounts of inflammatory cytokines; this may affect multiple organs including liver, spleen, lymph nodes, bone marrow, and central nervous system (CNS; Janka, Eur J Pediatr 166:95-109, 1). OBJECTIVE: The objective of this study is to describe the characteristics of the encephalopathy and to correlate the neuroradiological findings with the clinical symptoms and the treatment response in a child with FHL type 3 studied by total body computed tomography and by brain magnetic resonance (MR) and MR spectroscopy. RESULTS: VF, a 14-month-old female, developed a full-blown FHL, with facial nerve palsy as the only CNS complication. Brain MR imaging showed several focal areas of pathological signal in the subcortical and periventricular white matter, left thalamus, cerebellum, and brain stem. Proton MR spectroscopy also demonstrated no elevated peak of Cho, no lactate peak, and elevated glutamine/glutamate complex. Moreover, an elevated N-acetyl aspartate (NAA) peak was detected. The follow-up MR study after hematopoietic stem cells transplantation showed a dramatic reduction of the lesions and normalization of the metabolic pattern at spectroscopy. CONCLUSION: Brain lesions and metabolic alterations documented by MR and spectroscopy during active FHL reverted during disease control achieved by therapy.
BACKGROUND:Familial hemophagocytic lymphohistiocytosis (FHL) is a rare multisystem congenital disorder characterized by uncontrolled proliferation and infiltration of activated lymphocytes and histiocytes, secreting high amounts of inflammatory cytokines; this may affect multiple organs including liver, spleen, lymph nodes, bone marrow, and central nervous system (CNS; Janka, Eur J Pediatr 166:95-109, 1). OBJECTIVE: The objective of this study is to describe the characteristics of the encephalopathy and to correlate the neuroradiological findings with the clinical symptoms and the treatment response in a child with FHL type 3 studied by total body computed tomography and by brain magnetic resonance (MR) and MR spectroscopy. RESULTS:VF, a 14-month-old female, developed a full-blown FHL, with facial nerve palsy as the only CNS complication. Brain MR imaging showed several focal areas of pathological signal in the subcortical and periventricular white matter, left thalamus, cerebellum, and brain stem. Proton MR spectroscopy also demonstrated no elevated peak of Cho, no lactate peak, and elevated glutamine/glutamate complex. Moreover, an elevated N-acetyl aspartate (NAA) peak was detected. The follow-up MR study after hematopoietic stem cells transplantation showed a dramatic reduction of the lesions and normalization of the metabolic pattern at spectroscopy. CONCLUSION: Brain lesions and metabolic alterations documented by MR and spectroscopy during active FHL reverted during disease control achieved by therapy.
Authors: Jan-Inge Henter; Annacarin Horne; Maurizio Aricó; R Maarten Egeler; Alexandra H Filipovich; Shinsaku Imashuku; Stephan Ladisch; Ken McClain; David Webb; Jacek Winiarski; Gritta Janka Journal: Pediatr Blood Cancer Date: 2007-02 Impact factor: 3.167
Authors: Annacarin Horne; Gritta Janka; R Maarten Egeler; Helmut Gadner; Shinsaku Imashuku; Stephan Ladisch; Franco Locatelli; Scott M Montgomery; David Webb; Jacek Winiarski; Alexandra H Filipovich; Jan-Inge Henter Journal: Br J Haematol Date: 2005-06 Impact factor: 6.998
Authors: AnnaCarin Horne; Helena Trottestam; Maurizio Aricò; R Maarten Egeler; Alexandra H Filipovich; Helmut Gadner; Shinsaku Imashuku; Stephan Ladisch; David Webb; Gritta Janka; Jan-Inge Henter Journal: Br J Haematol Date: 2007-12-10 Impact factor: 6.998
Authors: E Marion Schneider; Ingrid Lorenz; Michaela Müller-Rosenberger; Gerald Steinbach; Martina Kron; Gritta E Janka-Schaub Journal: Blood Date: 2002-10-15 Impact factor: 22.113
Authors: L Chiapparini; G Uziel; C Vallinoto; M G Bruzzone; A Rovelli; G Tricomi; A Bizzi; N Nardocci; C Rizzari; M Savoiardo Journal: Neurol Sci Date: 2011-01-14 Impact factor: 3.307
Authors: Cristina Dias; Allison McDonald; Murat Sincan; Rosemarie Rupps; Thomas Markello; Ramona Salvarinova; Rui F Santos; Kamal Menghrajani; Chidi Ahaghotu; Darren P Sutherland; Edgardo S Fortuno; Tobias R Kollmann; Michelle Demos; Jan M Friedman; David P Speert; William A Gahl; Cornelius F Boerkoel Journal: Eur J Hum Genet Date: 2013-02-27 Impact factor: 4.246