Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1988, Ouvrier and Billson described four children with a condition they termed "benign paroxysmal tonic upgaze syndrome". The clinical picture is characterized by the appearance, in the first months of life, of episodes of paroxysmal upgaze deviation of varying duration, and without alteration of consciousness. Fixation nystagmus is observed when trying to look down. Episodes disappear during sleep. The neurological examination is usually normal, except for mild ataxia. In its idiopatic way, the syndrome tends to spontaneous recovery, but secondary types with different evolution should be rule out. We report two patients, one with Down Syndrome, and we analyze clinical aspects, evolution and differential diagnosis.
 ...
PMID:[Paroxysmal upgaze deviation syndrome]. 2113 20