Subscribe to RSS
Imaging Spectrum of Neurological Manifestations of Hemophagocytic Lymphohistiocytosis in Pediatrics: A Case SeriesFunding None.
Hemophagocytic lymphohistiocytosis (HLH) is an uncommon condition, which can result either from a primary genetic abnormality affecting children or secondary to various conditions like malignancy or infection predominantly in adults. HLH is associated with immune dysregulation, resulting in an uncontrolled overproduction and infiltration of lymphocytes and histiocytes. The infiltration predominantly involves liver, spleen, lymph nodes, and central nervous system. Neuroimaging features on magnetic resonance imaging are highly nonspecific and variable. The most typical findings include periventricular white matter hyperintensities and diffuse atrophy. Ring or nodular enhancing or nonenhancing focal parenchymal lesions may be seen. Here, we present three pediatric cases of primary HLH with a wide spectrum of imaging findings involving cerebral and cerebellar cortex, white matter, deep gray matter, and brain stem. The findings in these patients range from small nonenhancing hemorrhagic lesions and enhancing small lesions to ill-defined mass with mass effect and midline shift. Lesions in deep gray matter including thalamus, basal ganglia, and also brain stem in HLH are rarely described in literature. Early diagnosis of HLH and timely management can improve the course of the disease.
Article published online:
21 August 2023
© 2023. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
- 1 Henter JI, Nennesmo I. Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis. J Pediatr 1997; 130 (03) 358-365
- 2 Rosado FG, Kim AS. Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. Am J Clin Pathol 2013; 139 (06) 713-727
- 3 Fukaya S, Yasuda S, Hashimoto T. et al. Clinical features of haemophagocytic syndrome in patients with systemic autoimmune diseases: analysis of 30 cases. Rheumatology (Oxford) 2008; 47 (11) 1686-1691
- 4 Kollias SS, Ball Jr WS, Tzika AA, Harris RE. Familial erythrophagocytic lymphohistiocytosis: neuroradiologic evaluation with pathologic correlation. Radiology 1994; 192 (03) 743-754
- 5 Horne A, Trottestam H, Aricò M. et al; Histiocyte Society. Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J Haematol 2008; 140 (03) 327-335
- 6 Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL. How I treat hemophagocytic lymphohistiocytosis. Blood 2011; 118 (15) 4041-4052
- 7 Fitzgerald NE, MacClain KL. Imaging characteristics of hemophagocytic lymphohistiocytosis. Pediatr Radiol 2003; 33 (06) 392-401
- 8 Chiapparini L, Uziel G, Vallinoto C. et al. Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. Neurol Sci 2011; 32 (03) 473-477
- 9 Gratton SM, Powell TR, Theeler BJ, Hawley JS, Amjad FS, Tornatore C. Neurological involvement and characterization in acquired hemophagocytic lymphohistiocytosis in adulthood. J Neurol Sci 2015; 357 (1-2): 136-142
- 10 Van Cauter S, Severino M, Ammendola R. et al. Bilateral lesions of the basal ganglia and thalami (central grey matter)-pictorial review. Neuroradiology 2020; 62 (12) 1565-1605
- 11 Malik P, Antonini L, Mannam P. et al. MRI patterns in pediatric CNS hemophagocytic lymphohistiocytosis. Am J Neuroradiol 2021; 42 (11) 2077-2085