Benign paroxysmal tonic upgaze of childhood.
Four cases of an apparently benign ocular motor syndrome of childhood are reported. The features of the disorder are: (1) onset in early life; (2) periods of constant or variably sustained tonic conjugate upward deviation of the eyes; (3) down-beating saccades in attempted downgaze, which are difficult to sustain below the neutral positions; (4) apparently normal horizontal eye movements; (5) frequent relief by sleep; (6) otherwise normal neurological findings apart from mild ataxia, chronic in one boy and at times of illness in one of the other patients; (7) absence of deterioration during observation spanning up to 15 years; (8) eventual improvement but with some residual ocular movement problems in two cases; (9) normal metabolic, electroencephalographic, and neuroradiologic investigations; (10) normal brain examination findings in one patient who died accidentally; and (11) an apparently good response to levodopa therapy in one patient. To the authors' knowledge, this condition has not been described previously. It may be a new levodopa-responsive condition, secondary to a localized neurotransmitter deficiency.
Ouvrier
R A
RA
Department of Neurology, Royal Alexandra Hospital for Children, Camperdown, Australia.
Billson
F
F
D001921:Brain / Q000503:physiopathology; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005133:Eye Movements; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009759:Nystagmus, Pathologic / Q000503:physiopathology; D009886:Ophthalmoplegia / Q000503:physiopathology; D012438:Saccades; D012894:Sleep Stages / Q000502:physiology*