A Case with Joubert’s Syndrome and Alternating and Lateral Skew Deviations
To report a case of Joubert’s syndrome with alternating skew deviation and lateral skew deviation.
A 18-year-old girl was referred with the chief complaint of abnormal eye movements since infancy. Some degree of oculomotor apraxia was revealed as the girl had difficulties in initiating horizontal saccades and subsequent head thrust. Periodic alternating vertical misalignment of eyes was also evident, known as alternating skew deviation. After 3 to 5 seconds, the vertical divergence of the eyes reversed direction. Gaze to either side also resulted in hypertropia of abducting eye, known as lateral skew deviation. MRI demonstrated hypoplasia of superior cerebellar vermis along molar tooth signs associated with Joubert syndrome.
This report shows that alternating skew deviation and lateral skew deviation can be manifestations of Joubert’s syndrome.
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