MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis

• DOI: 10.3174/ajnr.a7292
• Publication Date: 2021-10-07T14:47:14Z
• Authors: P. Malik; L. Antonini; P. Mannam; F.N. Aboobacker; A. Merve; K. Gilmour; K. Rao; S. Kumar; S.E. Mani; D. Eleftheriou; A. Rao; C. Hemingway; S.V. Sudhakar; J. Bartram; K. Mankad
• Keywords: Hemophagocytic Lymphohistiocytosis

Neuroimaging has an important role in detecting CNS involvement children with systemic or isolated hemophagocytic lymphohistiocytosis. We characterized a cohort of pediatric patients lymphohistiocytosis focusing on neuroradiologic features and assessed whether distinct MR imaging patterns genotype correlations can be recognized.We retrospectively enrolled consecutive diagnosed treated at 2 neurology centers between 2010 2018. Clinical data were analyzed.Fifty-seven (40 primary, 70%) median age 36 months (interquartile range, 5.5-80.8 months) included. One hundred twenty-three studies assessed, broad identified. Pattern 1 (significant parenchymal disease, 32/57, 56%) was seen older (P = .004) worse clinical profiles. It had 3 onset subpatterns: multifocal white matter lesions (21/32, 66%), brainstem predominant disease (5, 15%), cerebellitis (6, 19%). All the pattern failed to meet radiologic criteria for chronic lymphocytic inflammation pontine perivascular enhancement responsive steroids. An attenuated phenotype (pattern 2) 25 (44%, 30 studies) associated younger age.Distinct correlating phenotypes possible genetic underpinnings recognized this Disruptive mutations missense absent protein expression correlate age. Children negative etiologic work-up require directed assessment