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Pendular nystagmus in hypomyelinating leukodystrophy |
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| Authors: | R. Bassani D. Pareyson L. D’Incerti D. Di Bella F. Taroni E. Salsano |
| Affiliation: | 1. Department of Neurological Sciences, Ospedale “G. Salvini”, via Forlanini 121, Garbagnate Milanese, Italy;2. Oto-neurology Service, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milano, Italy;3. Department of Neuroradiology, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milano, Italy;4. Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milano, Italy;5. Unit of Clinic of Central and Peripheral Degenerative Neuropathies, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milano, Italy |
| Abstract: | We report the case of a 49-year old woman affected by hypomyelinating leukodystrophy. She presented with typical pendular nystagmus that was analyzed with video-oculography which is provided in the supplementary material of the report. The pendular nystagmus was accompanied by upper limb ataxia on the index-to-nose test. The video was partly recorded with a slow-motion technique in order to better demonstrate the ataxia and the pendular nystagmus. The brain MRI demonstrated a characteristic pattern of hypomyelination. Pendular nystagmus is a key clinical sign that contributes to the diagnosis of CNS hypomyelination when a leukodystrophic pattern is observed on brain MRI. |
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