Erythrophagocytic Lymphohistiocytosis: MR Findings in Five Cases

Abstract

Erythrophagocytic Lymphohistiocytosis (EL) is a rare disease characterized by a haemophagocytic syndrome and multisystem involvement including visceral organs, lymph nodes, bone marrow and central nervous system 1 • We retrospectively assessed clinical, cytological and radiological data in five patients with EL. This study was aimed at assessing MR accuracy in the identification and characterization of central nervous system lesions.Our brain MR reports, correlating with pathologic findings described in literature, show a diffuse supra-and infratentorial white matter involvement, associated with deep gray matter infiltration.The overall effect of these reports allows a correct differential diagnosis from other white matter pediatric pathologies. In the only case without neurologic symptoms, brain MR revealed a diffuse atrophy.The only patient who received a bone marrow transplantation is currently in clinical remission; brain MR control showed a substantial stabilization of the central nervous system abnormalities.MR findings show a good correlation with areas of parenchyma! and meningeallymphohistiocytic infiltration; in addition, MR shows the possible stabilization of brain parenchyma abnormalities following bone marrow transplantation. Linfoistiocitosi eritrofagica: reperti RM in 5 casiRIASSUNTO -La linfoistiocitosi eritrofagica e una rara affez ione caratterizzata da una sindrome emofagocitica con interessamento multisistemico a carico di organi splancnici, linfonodi, midollo ossea e sisterna nervosa centra/e. Lo studio riguarda la revisione dei dati clinici, citologici e neuroradiologici in 5 pazienti con linfoistiocitosi eritrofagica, alto scopo di definire l'accuratezza diagnostica delta RM nell'identificazione e caratterizzazione delle lesioni a carico del sistema nervosa centra/e. I reperti RM, in correlazione con i dati riportati in letteratura, sono caratterizzati da un diffuso interessamento delta sostanza bianca sopra e sottotentoriale, associato ad una infiltrazione delta sostanza grigia profonda. Tali reperti, in associazione ai dati clinici, orientano la diagnosi differenziale verso altre patologie pediatriche delta sostanza bianca.Nell'unico caso descritto p rivo di sintomatologia neurologica, la RM ha dimostrato una diffusa atrofia corticale senza alterazioni di segnale del tessuto encefalico. L 'unico paziente trattato con trapianto di midollo ossea e attualmente in remissione clinica, con sostanziale stabilizzazione dei reperti RM. La RM dimostra in conclusione una buona correlazione tra i reperti dimostrabili e le aree di infiltrazione linfoistiocitaria parenchimale e meningea; la metodica e inoltre indispensabile nel valutare l'evoluzione delle lesioni cerebrali dopa trattamento con trapianto di m idollo. 633 A B Erythrophagocytic Lymphohistiocytosis: MR Findings in Five Cases S. Cirillo ate, and cranial irradiation. Pediatrics 76 (2) : 263-268, 1984.

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

“…In this heterogeneous group of diseases, some of the findings on brain imaging have been seen in other children with the same disease without cholestasis 94–97 . However, for erythrophagocytic lymphohistiocytosis, juvenile xanthogranuloma, unknown cholestatic liver disease and kernicterus scanned at diagnosis and one case of Kabuki scanned at 6–11 years of not all findings have previously been described in children without cholestasis 98–102 . The findings can be seen in Table 2A and Table S6.…”

“…[94][95][96][97] However, for erythrophagocytic lymphohistiocytosis, juvenile xanthogranuloma, unknown cholestatic liver disease and kernicterus scanned at diagnosis and one case of Kabuki scanned at 6-11 years of not all findings have previously been described in children without cholestasis. [98][99][100][101][102] The findings can be seen in Table 2A and Table S6.…”