Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 29-month-old boy presented to a pediatric emergency department with complaints of trouble sleeping for more than a week. History consisted of episodes of screaming while asleep from which he could not be awakened. A detailed physical examination revealed left arm
dystonia
and left plantar reflex to be upgoing. Upon admission, all imaging and an electroencephalogram were normal. Extensive laboratory work was done showing positive anti-N-methyl-D-Aspartate (NMDA) antibody in the cerebrospinal fluid. Inpatient care included intravenous immunoglobulin (IVIG) and Solumedrol.
Cellcept
was started after definitive diagnosis and continued on discharge. The patient was discharged with residual defects that will need long-term therapy. The varied presenting symptoms are easily misinterpreted as common clinical entities. Pediatric emergency physicians need to be aware of the wide spectrum of presenting symptoms for this clinical entity because earlier diagnosis and treatment have been shown to improve long-term morbidity.
...
PMID:Two-Year-Old With Sleep Disturbance and Left Arm Movements. 3294 63
