caa a22 4500 445356014 CHVBK 20180317142900.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10072-010-0467-2 doi (NATIONALLICENCE)springer-10.1007/s10072-010-0467-2 Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis [Elektronische Daten] [L. Chiapparini, G. Uziel, C. Vallinoto, M. Bruzzone, A. Rovelli, G. Tricomi, A. Bizzi, N. Nardocci, C. Rizzari, M. Savoiardo] Hemophagocytic lymphohistiocytosis (HLH) is a rare disease with rarer neurological presentation. When this occurs, diagnosis may be delayed. This report aims to call attention to clinical, laboratory, and radiological features that should prompt the correct diagnosis. A 13-year-old girl presented with progressive increase in intracranial pressure and ataxia. MRI showed a diffuse tumor-like swelling of the cerebellum with tonsillar herniation and patchy white matter post-contrast enhancement. Regression of swelling with steroids ruled out glioma and medulloblastoma, and brain lymphoma was considered. Diagnosis of HLH was reached 2months after onset when uncontrolled fever and severe elevation of liver enzymes occurred. Two bone marrow biopsies were needed to demonstrate hemophagocytosis. Familial HLH was confirmed by perforin gene mutations. Bone marrow transplantation was performed. The early diagnosis of HLH may be life saving. Awareness of the disease is necessary to investigate its characteristic findings, thus avoiding a delay in diagnosis. Springer-Verlag, 2010 Brain swelling nationallicence Epstein-Barr virus nationallicence Hemophagocytic lymphohistiocytosis nationallicence Pancytopenia nationallicence Perforin gene nationallicence Chiapparini L. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut Uziel G. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy aut Vallinoto C. Bone Marrow Transplantation Center, San Gerardo Hospital, Milano-Bicocca University Pediatric Department, Monza, Italy aut Bruzzone M. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut Rovelli A. Bone Marrow Transplantation Center, San Gerardo Hospital, Milano-Bicocca University Pediatric Department, Monza, Italy aut Tricomi G. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy aut Bizzi A. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut Nardocci N. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy aut Rizzari C. Bone Marrow Transplantation Center, San Gerardo Hospital, Milano-Bicocca University Pediatric Department, Monza, Italy aut Savoiardo M. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut Neurological Sciences Springer Milan 32/3(2011-06-01), 473-477 1590-1874 32:3<473 2011 32 10072 https://doi.org/10.1007/s10072-010-0467-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-010-0467-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chiapparini L. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut NATIONALLICENCE 700 1- Uziel G. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy aut NATIONALLICENCE 700 1- Vallinoto C. Bone Marrow Transplantation Center, San Gerardo Hospital, Milano-Bicocca University Pediatric Department, Monza, Italy aut NATIONALLICENCE 700 1- Bruzzone M. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut NATIONALLICENCE 700 1- Rovelli A. Bone Marrow Transplantation Center, San Gerardo Hospital, Milano-Bicocca University Pediatric Department, Monza, Italy aut NATIONALLICENCE 700 1- Tricomi G. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy aut NATIONALLICENCE 700 1- Bizzi A. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut NATIONALLICENCE 700 1- Nardocci N. Department of Pediatric Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy aut NATIONALLICENCE 700 1- Rizzari C. Bone Marrow Transplantation Center, San Gerardo Hospital, Milano-Bicocca University Pediatric Department, Monza, Italy aut NATIONALLICENCE 700 1- Savoiardo M. Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/3(2011-06-01), 473-477 1590-1874 32:3<473 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer