Isolated Sixth Nerve Palsies in a Child With Familial Hemophagocytic Lymphohistiocytosis Type 2

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Title Isolated Sixth Nerve Palsies in a Child With Familial Hemophagocytic Lymphohistiocytosis Type 2
Creator Homer H. Chiang, MD; Sebastian Fernandez-Pol, MD, PhD; Gordon H. Bae, MD; Kerri E. Rieger, MD, PhD; Hisham M. Dahmoush, MBBCh; Shannon J. Beres, MD
Affiliation Department of Ophthalmology (HHC), Stanford University School of Medicine, Palo Alto, California; and Departments of Pathology (SFP), Dermatology (GHB), Pathology and Dermatology (KER), Radiology (HMD), and Ophthalmology, Neurology and Neurosciences (SJB), Stanford University School of Medicine, Stanford, California
Abstract A previously healthy 2-year-old boy presented with a left sixth cranial nerve palsy. There was a family history of multiple sclerosis and optic neuritis. Neuroimaging showed multiple foci of T2/FLAIR hyperintense signal abnormality in both cerebral hemispheres and in the brainstem. The initial diagnosis was suspicious for demyelinating disease. However, there was no clinical improvement after a course of corticosteroids, and there was no change in his follow-up MRI. He later developed bilateral sixth nerve palsies, with esotropia addressed with bilateral medial rectus botulinum toxin injections. A brain biopsy was planned. However, his 3-month-old sister was separately admitted for fever and pancytopenia. She had markedly elevated ferritin, D-dimer, triglycerides, sIL-2R, CXCL9, and IL-18 and low fibrinogen. Her bone marrow biopsy showed hemophagocytosis. Genetic testing of both siblings revealed biallelic mutations in the PRF1 locus. The final diagnosis of familial hemophagocytic lymphohistiocytosis Type 2 was made. Both siblings underwent chemotherapy. The boy's sixth nerve palsies and MRI abnormalities resolved. Both siblings then went on to undergo bone marrow transplant.
Subject Sixth Nerve Palsy; Demyelinating Disease
OCR Text Show
Date 2023-03
Date Digital 2023-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, March 2023, Volume 43, Issue 1
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6gq6xar
Setname ehsl_novel_jno
ID 2460101
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gq6xar
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