| Identifier |
walsh_2012_s1_c3 |
| Title |
Downbeat Nystagmus, Esotropia, and Lymphadenopathy in a 10-Month Old Girl with Chronic Fevers |
| 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: https://NOVEL.utah.edu/about/copyright |
| 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 http://NOVEL.utah.edu |
| Language |
eng |
| ARK |
ark:/87278/s6f47s1j |
| Setname |
ehsl_novel_fbw |
| ID |
179108 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6f47s1j |
