| Identifier |
walsh_2012_s1_c3 |
| Title |
Downbeat Nystagmus, Esotropia, and Lymphadenopathy in a 10-Month Old Girl with Chronic Fevers |
| Creator |
Frank Siringo; Jeffrey Odel; Bryan Lanzman; Tatyana Gindin |
| Affiliation |
Columbia University Medical Center, New York Presbyterian Hospital, New York, NY |
| 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 |
| 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 - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-6382 |
| 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 |
| Setname |
ehsl_novel_fbw |
| ID |
179108 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6f47s1j |
