Downbeat Nystagmus, Esotropia, and Lymphadenopathy in a 10-Month Old Girl with Chronic Fevers

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Identifier walsh_2012_s1_c3
Title Downbeat Nystagmus, Esotropia, and Lymphadenopathy in a 10-Month Old Girl with Chronic Fevers
Creator Frank Siringo
Subject Nystagmus, Pathologic; Abducens Nerve Diseases; Histiocytosis; Lymphohistiocytosis, Hemophagocytic
History A 10-month old dizygotic twin female with diarrhea and high fever. Clinical course marked by abdominal distention, poor oral intake, hepatosplenomegaly, diffuse lymphadenopathy. Subsequent decline in tone, loss of motor milestones, e. coli UTI, p. aeruginosa sepsis, anemia, thrombocytopenia, and ultimately disseminated intravascular coagulation Tx IV antibacterial agents.
Pathology Diffuse cerebral atrophy
Disease/Diagnosis Familial hemophagocytic lymphohistiocytosis, via confirmed STXBP2 mutation. CNS involvement via downbeat nystagmus and sixth nerve palsy
Clinical Left CN VI palsy; Downbeat nystagmus
Presenting Symptom Diarrhea; Fever
Neuroimaging MRI
Treatment Alkylating antineoplastic agents; Glucocorticoids; Bone marrow transplant
Date 2012-02-12
References Attached
Language eng
Format application/pdf
Type Text
Source 44th Annual Frank Walsh Society Meeting
Relation is Part of Case presented at the NANOS 2012 Walsh Session, February 12
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2012. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6f47s1j
Contributor Primary Siringo, Frank
Contributor Secondary Odel, Jeffrey; Lanzman, Bryan; Gindin, Tatyana
Setname ehsl_novel_fbw
ID 179108
Reference URL https://collections.lib.utah.edu/ark:/87278/s6f47s1j