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Vertical saccade palsy: a presenting sign of Niemann‐Pick type IIS
Author(s) -
Shawkat F.S.,
Carr L.,
West P.,
Taylor D.S.I.,
Surtees R.,
Harris C.M.
Publication year - 1994
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1994.tb00056.x
Subject(s) - optokinetic reflex , medicine , saccade , eye movement , sign (mathematics) , smooth pursuit , audiology , nystagmus , reflex , ophthalmology , palsy , physical medicine and rehabilitation , neuroscience , psychology , pathology , mathematical analysis , alternative medicine , mathematics
An 8 year old sister of a patient undergoing investigations for Niemann‐Pick type IIS was observed to have mild difficulties in making downward saccades. She had no other symptoms apart from longstanding mild learning difficulties. Detailed eye movement assessment, using horizontal and vertical electro‐oculography and video monitoring, revealed normal horizontal but abnormal vertical eye movements. Vertical downward saccades were absent and could only be achieved by mobilizing the bead to allow for headthrusts. Upward saccades were present at initial presentation, however a subsequent recording after 10 months revealed an inability to make upward saccades unless accompanied by blinks. Vertical optokinetic nystagmus was absent, although vertical smooth pursuit and vestibular ocular reflex were present. Cultured skin fibroblasts showed defective cholesterol esterification which confirmed the diagnosis of Niemann‐Pick type IIS (previously known as type C). Vertical saccade palsy has been described as part of the neurological deficits, however it has not been previously reported as the presenting sign of Niemann‐Pick type IIS.