Downbeat Nystagmus, Esotropia, and Llymphadenopathy in a 10-Month Old Girl with Chronic Fevers (PowerPoint)

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Identifier walsh_2012_s1_c3_ppt
Title Downbeat Nystagmus, Esotropia, and Llymphadenopathy in a 10-Month Old Girl with Chronic Fevers (PowerPoint)
Creator Siringo, Frank
Subject Nystagmus, Pathologic; Abducens Nerve Diseases; Histiocytosis; Lymphohistiocytosis, Hemophagocytic
Presenting Symptom Diarrhea; Fever
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.
Clinical Left CN VI palsy; Downbeat nystagmus
Neuroimaging MRI
Pathology Diffuse cerebral atrophy
Disease/Diagnosis Familial hemophagocytic lymphohistiocytosis, via confirmed STXBP2 mutation. CNS involvement via downbeat nystagmus and sixth nerve palsy
Treatment Alkylating antineoplastic agents; Glucocorticoids; Bone marrow transplant
References Attached
Relation is Part of Case presented at the NANOS 2012 Walsh Session, February 12
Contributor Primary Siringo, Frank
Contributor Secondary Odel, Jeffrey; Lanzman, Bryan; Gindin, Tatyana
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2012-02-12
Type Text
Format application/pdf
Source 44th Annual Frank Walsh Society Meeting
Rights Management Copyright 2012. For further information regarding the rights to this collection, please visit:
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
Language eng
ARK ark:/87278/s6ks6vf5
Setname ehsl_novel_fbw
ID 179099
Reference URL
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