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Case Reports
. 2016 May 31;86(22):2109-11.
doi: 10.1212/WNL.0000000000002729. Epub 2016 Apr 29.

Progressive Neurologic Disorder: Initial Manifestation of Hemophagocytic Lymphohistiocytosis

Free PMC article
Case Reports

Progressive Neurologic Disorder: Initial Manifestation of Hemophagocytic Lymphohistiocytosis

Claire Murphy et al. Neurology. .
Free PMC article


Figure. Imaging findings, Sanger sequencing, Munc protein expression, and CD107a degranulation assay in a 14-year-old female with progressive neurologic disorder due to primary hemophagocytic lymphohistiocytosis
(A) Coronal fluid-attenuated inversion recovery–weighted MRI of the brain, (B) sagittal T2-weighted imaging of the cervicothoracic spine, and (C) axial T2-weighted imaging of the brain, showing bilateral lesions in the brain (internal capsules, globi pallidi, subthalamic nuclei, deep white matter), as well as mid–cervical spine lesions. (D) Axial postcontrast T1-weighted imaging at the level of the cerebellum revealed bilateral diffuse leptomeningeal enhancement. (E) Sanger sequencing chromatogram of UNC13D gene showing compound heterozygous mutations in exon 10 (c.C817T; p.R273X) and exon 14 (c.G1241T; p.R414L) for the same patient. (F) Western blot analysis in patient-derived peripheral blood mononuclear cells shows absence of Munc 13-4 protein relative to a healthy control. (G) Flow cytometric figures show absent percentage increase in CD107a-positive cells in patient-derived CD8 T cells following stimulation with anti-CD3 antibody in relation to a healthy control.

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