Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis

Neurological Sciences

Volumn 32, Issue 3, 2011, Pages 473-477

  Chiapparini, L ^a   Uziel, G ^a   Vallinoto, C ^b   Bruzzone, M G ^a   Rovelli, A ^b   Tricomi, G ^a   Bizzi, A ^a   Nardocci, N ^a   Rizzari, C ^b   Savoiardo, M ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

Brain swelling; Epstein Barr virus; Hemophagocytic lymphohistiocytosis; Pancytopenia; Perforin gene

Indexed keywords

LIVER ENZYME; PERFORIN; STEROID;

ADOLESCENT; ARTICLE; ATAXIA; BONE MARROW BIOPSY; BONE MARROW TRANSPLANTATION; BRAIN HERNIA; BRAIN LYMPHOMA; CASE REPORT; CEREBELLUM; CLINICAL FEATURE; CONTRAST ENHANCEMENT; DIAGNOSTIC ERROR; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG RESPONSE; EARLY DIAGNOSIS; FEMALE; FEVER; GENE MUTATION; GLIOMA; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INTRACRANIAL HYPERTENSION; LABORATORY TEST; MEDULLOBLASTOMA; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; RADIODIAGNOSIS; STEROID THERAPY; WHITE MATTER;

ADOLESCENT; CEREBELLAR NEOPLASMS; CEREBELLUM; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FEMALE; HUMANS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC;

EID: 79960118810     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-010-0467-2     Document Type: Article

References (17)

1. Janka GE (2007) Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr 166:95-109 (Pubitemid 46025500)
2. Larroche C, Mouthon L (2004) Pathogenesis of hemophagocytic syndrome (HPS). Autoimmun Rev 3:69-75 (Pubitemid 38293367)
3. Henter JI, Arico M, Elinder G et al (1998) Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin N Am 12:417-433
4. Stepp SE, Dufourcq-Lagelouse R, Le Deist F et al (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:1957-1959 (Pubitemid 129515904)
5. Henter JI, Horne A, Arico M, et al (2007) Histiocytes society. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124-131 (Pubitemid 44958267)
6. Fitzgerald NE, McClain KL (2003) Imaging characteristics of hemophagocytic lymphohistiocytosis. Pediatr Radiol 33:392-401 (Pubitemid 36748392)
7. Kim J, Lee SK, Joo SH et al (2006) MR findings of fulminant leukoencephalopathy in EBV-associated hemophagocytic syndrome. Yonsei Med J 47:873-876 (Pubitemid 46029648)
8. Kobayashi Z, Tsuchiya K, Takahashi M et al (2008) An autopsy case of chronic active Epstein-Barr infection (CAEBV): Distribution of central nervous system (CNS) lesions. J Neurol Sci 275: 170-177
9. Kollias SS, Ball WS, Tzika AA (1994) Familial erythrophagocytic lymphohistiocytosis: Neuroradiologic evaluation with pathologic correlation. Radiology 192:743-754 (Pubitemid 24266791)
10. Forbes KPN, Collie D, Parker A (2000) CNS involvement of virus-associated hemophagocytic syndrome: MR imaging appearance. AJNR Am J Neuroradiol 21:1248-1250 (Pubitemid 30655658)
11. Caranci F, D'Amico A, Briganti F et al (2003) Linfoistiocitosi eritrofagocitica. Reperti neuroradiologici. Rivista di Neuroradiol 16:365-372
12. Goo HW, Weon YC (2007) A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis. Pediatr Radiol 37:1110-1117 (Pubitemid 47561839)
13. Decaminada N, Cappellini M, Mortilla M et al (2010) Familial hemophagocytic lymphohistiocytosis: Clinical and neuroradiological findings and review of the literature. Childs Nerv Syst 26:121-127
14. Pachlopnik Schmid J, Moshous D, Boddaert N et al (2009) Hematopoietic stem cell transplantation in Griscelli syndrome type 2: A single-center report on 10 patients. Blood 114:211-218
15. Janka G, Schneider EM (2004) Modern management in children with hemophagocytic lymphohistiocytosis. Br J Haematol 124: 4-14 (Pubitemid 38021618)
16. Szots M, Szomor A, Kover F et al (2008) Intravascular lymphomatosis of the nervous system. J Neurol 255:1590-1592
17. van der Knaap MS, Arts WFM, Garbern JY et al (2008) Cerebellar leukoencephalopathy most likely histiocytosis-related. Neurology 71:1361-1367