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Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
4–5 years of age: Telangiectases: subpapillary venous plexuses, most evident in the outer parts of the bulbar conjunctivae (Figures 16.80, 16.81), over the ears, on exposed parts of the neck (Figures 16.82, 16.83), on the bridge of the nose and cheeks in a butterfly pattern, and in the flexor creases of the forearms (Figures 16.84, 16.85).Ocular pursuit: jerky due to interruption by saccadic intrusions.Saccades: slow and long latency.Apraxia for voluntary horizontal gaze (the head, not the eyes, turn on attempting to look to the side).Loss of optokinetic nystagmus.Limb ataxia and dysarthric speech.Choreoathetosis.Grimacing.
4-Hydroxybutyric aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Nonprogressive ataxia and hypotonia have been recognized as characteristic of this syndrome [2, 15, 16, 18–21], along with relatively mild mental impairment. Two siblings, first seen at nine and 11 years of age, had moderate ataxia and intention tremor (Figure 13.5). Their speech was mildly dysarthric. The girl was hypotonic, but her brother was not. Deep tendon reflexes were difficult to elicit. Two years later, the ataxia in both of these children had improved considerably. Another patient had mental impairment and hypertonia and ataxia, and no improvement was noted with time. At six years of age, he could hardly stand and could not walk. Seizures began before one year of age. Sensory examination was normal in all of the children. Seizures occurred in slightly less than half in two groups of reported patients [7, 15, 16]. Hypotonia was observed in 60–70 percent. Optokinetic nystagmus has been described [15]. Both microcephaly and macrocephaly have been observed. One patient underwent a pyloromyotomy [15].
The nervous system
Published in Peter Kopelman, Dame Jane Dacre, Handbook of Clinical Skills, 2019
Peter Kopelman, Dame Jane Dacre
Nystagmus This is most commonly due to disorders of the vestibular system or to lesions involving central pathways concerned with ocular movements, for example vestibulocerebellar connections in the brainstem or the medial longitudinal bundle. It may also on occasion result from weakness in the ocular muscles. Nystagmus may be induced by toxic levels of certain drugs, for example phenytoin. It may also be congenital in origin, where it shows a pendular quality. A few irregular jerks of the eyes may be seen in full lateral deviation in healthy subjects. Optokinetic nystagmus may be observed in healthy subjects when the eyes are repeatedly fixed on a moving stimulus; an example is seen when a person tries to read an advertisement on a station platform as the train departs.
Proceedings of the 44th Annual Upper Midwest Neuro-Ophthalmology Group Meeting
Published in Neuro-Ophthalmology, 2023
Negar Moheb, Adam Baim, Collin McClelland, John. J. Chen
John Mitchell, MD, Marshfield Clinic, discussed the case of a 29-year-old male who was referred due to complete monocular vision loss after an apparent syncopal episode. He had initially presented to an urgent care clinic where a CT scan of the brain and orbits was unremarkable. Over the next several days he reported onset of right hand weakness and numbness, intermittent headaches, and episodes of vertigo. He was sent for neuro-ophthalmological evaluation, where no relative afferent pupillary defect was noted. Although he continued to complain of complete vision loss in the left eye, optokinetic nystagmus was appreciated and the patient tracked the image of his face in a tilting mirror. His stereoacuity was measured at 40 seconds of arc. His structural eye examination was unremarkable. He was advised to anticipate a ‘miraculous’ recovery of his vision loss, which he was pleased to report at his follow-up visit 2 weeks later. The case foregrounds the challenges of functional vision loss and illustrates many techniques that can be employed to reach this diagnosis.
Eunos 2022: Birmingham, United Kingdom, 20th – 23rd June 2022
Published in Neuro-Ophthalmology, 2022
Sophie L. P. Mollan, Susan P. Mollan
The final day began with visual impairment in neuro-ophthalmology and approaches to rehabilitation. Professor Fiona Rowe (Liverpool, UK) began discussing the timing of visual screening and assessment in an acute stroke population. She advocated for early assessment of vision to enable improved outcomes. Dr Susanne Trauzettel-Klosinski (Tübingen, Germany) presented on hemianopic visual field defects and their research into vertical reading training to improve the condition. Dr Trauzettel-Klosinski went onto explain the significant improvements, surprisingly, in both groups studied. Those with right hemianopia benefitted from vertical reading, whereas those with left hemianopia benefitted from horizontal reading, providing an interesting and useful discovery. The session included other work on optokinetic nystagmus suppression, the clinical applications of pupillography and e-health technologies that could benefit our patients. Dr Bianca Huurneman (Nijmegen, Netherlands) discussed her research on visual perceptual learning in infantile nystagmus. A home-based application was developed in order for children to complete training sessions. This was successful as children were able to use the app with ease resulting in improvement of visual acuity.
Binocular, Accommodative and Oculomotor Alterations In Multiple Sclerosis: A Review
Published in Seminars in Ophthalmology, 2020
Amparo Gil-Casas, David P Piñero, Ainhoa Molina-Martin
Nystagmus may be due to visual deprivation due to optic neuritis75 as the oscillations have been shown to be usually larger in the eye with more severe visual impairment. Another theory is that the oscillations are due to the instability of the neural integrator73,78, because in patients with MS demyelinating plaques are in the region of the paramedian tracts, which is an important area associated with feedback circuits of eye velocity signals.79,80 In a clinical case, a vertical pendular nystagmus was reported in MS, with simultaneous involvement of optic nerve and asymmetric brain stem lesions.81 Concerning the optokinetic nystagmus (OKN), it is one of the most common (around 60% of patients)82 and disabling nystagmus in MS.83