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1/38. arnold-chiari malformation and nystagmus of skew.

    The Arnold-Chiari malfomation is typically associated with downbeat nystagmus. Eye movement recordings in two patients with Arnold-Chiari malfomation type 1 showed, in addition to downbeat and gaze evoked nystagmus, intermittent nystagmus of skew. To date this finding has not been reported in association with Arnold-Chiari malfomation. Nystagmus of skew should raise the suspicion of Arnold-Chiari malfomation and prompt sagittal head MRI examination.
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2/38. Periodic alternating nystagmus associated with arnold-chiari malformation.

    The arnold-chiari malformation type I is a rare congenital condition characterized by herniation of the cerebellar tonsils into the upper cervical spinal tract. Various otoneurological manifestations occur in patients with the disease, which has usually been associated with a downbeat type of nystagmus. In this paper a case with this condition is reported presenting with periodic alternating nystagmus (PAN), which is a rare type of nystagmus observed in diseases of the central nervous system of different pathologies. The patient had a complete otoneurological examination and vestibular function testing. diagnosis was established by using magnetic resonance imaging (MRI).
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3/38. friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia.

    Around a quarter of friedreich ataxia (FA) patients, despite being homozygous for GAA expansion within the FRDA gene, show atypical presentations. Our aim is to describe the case of three brothers with long-term follow-up suffering from late onset FA manifested with spastic ataxia. The three patients belong to a family with occipital dysplasia (OD) and Chiari I malformation previously reported by us. We have carried out serial examinations since 1977. Electrophysiological and neuroimaging studies, and molecular genetic analyses of hereditary ataxias are available in all three patients. Onset of symptoms occurred between 25 and 35 years. The clinical picture consisted of progressive spastic gait, truncal and limb ataxia, dysarthria, nystagmus, hyperreflexia with knee and ankle clonus and extensor plantar response, and mild hypopallesthesia. Ages at present vary between 50 and 59. One patient is wheelchair-bound but the other two are able to walk with support. Leaving OD aside, skeletal anomalies are not prominent. All three patients showed cardiomyopathy. MR imaging revealed atrophy of the cerebellum and spinal cord. Motor and sensory nerve conduction velocities were normal. Central conduction time of both motor and sensory pathways was delayed or unobtainable. All three patients were homozygous for the GAA expansion, the smaller expanded allele ranging between 131 and 156 repeats. Four heterozygotic carriers were detected among non-ataxic relatives including one with OD; furthermore, an asymptomatic OD patient showed normal genotype. We conclude that adult onset spastic ataxia is a distinctive FA phenotype associated with minimal GAA expansion. This phenotype represents a new cause of selective distal degeneration of central sensory axons. The present concurrence of OD and FA reflects coincidental cosegregation of two different inherited disorders.
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keywords = nystagmus
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4/38. Otorhinolaryngologic manifestations in Chiari malformation.

    The Chiari malformation causes herniation of the cerebellar amygdalae through the foramen magnum, resulting in the descent of the brain stem and/or traction on the lower cranial pairs. It is important for otolaryngologists to recognize Chiari malformations as part of the differential diagnosis of balance disorders, because patients may initially exhibit symptoms related to the vestibular system, including ataxia, nystagmus, or vertigo. We report 2 cases.
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5/38. Progressive cerebellar tonsillar herniation with recurrent divergence insufficiency esotropia.

    The Chiari malformations are characterized by herniation of posterior fossa contents through the foramen magnum. Chiari I malformation is currently defined as ectopia of the cerebellar tonsils more than 5 mm below the foramen magnum. Extension of the cerebellar tonsils up to 3 mm may be found in the normal population. Although Chiari malformations are congenital, symptoms often do not manifest until the third and fourth decades of life, or even later. patients usually present with headache, lower cranial nerve palsies, downbeat nystagmus, ataxia, or dissociated anesthesia of the trunk and extremities. Definitive diagnosis is made by magnetic resonance imaging (MRI), which shows the compressed tonsils extending through the foramen magnum into the cervical subarachnoid space. One of the rare presenting signs of Chiari I malformations is acquired esotropia with a divergence insufficiency pattern. We report such a case in which the initial neuroimaging showed tonsillar herniation, but of insufficient magnitude to meet diagnostic criteria for Chiari I malformation. When the strabismus recurred after initially successful eye muscle surgery, follow-up scan showed progressive tonsillar herniation.
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ranking = 0.14285714285714
keywords = nystagmus
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6/38. arnold-chiari malformation.

    arnold-chiari malformation is a congenital malformation of the skull near the foramen magnum in which the cerebellum and the medulla are caudally displaced. This herniation of the brainstem causes down-beat nystagmus and oscillopsia, the most commonly presenting sign and symptom, respectively. Differential diagnoses for the arnold-chiari malformation include, but are not limited to, demyelinating disease, tumor, and vascular disorders. Symptoms will generally worsen with time and may even be brought on during exercise or valsalva maneuvers. A correct diagnosis can lead to timely surgical intervention which can improve the quality of eye movements. Treatment generally involves the surgical decompression of the surrounding spinal tissue.
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ranking = 0.14285714285714
keywords = nystagmus
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7/38. Chiari-I malformation associated with asymmetric sensorineural hearing loss.

    Chiari-I malformation is a deformity of the structures of the posterior fossa in which there is inferior herniation of the cerebellar tonsils through the foramen magnum without significant caudal dislocation of the brainstem. patients are usually asymptomatic until adulthood, when they commonly present with recurrent headaches, weakness, vertigo and/or imbalance, nystagmus and hearing loss. A review of 226 consecutive patients evaluated for asymmetric sensorineural hearing loss revealed 32 patients with retrocochlear pathology. Three of these patients were discovered to have a Chiari-I malformation by magnetic resonance imaging as their only pathology. We suggest a possible association between a Chiari-I malformation and isolated asymmetric sensorineural hearing loss secondary to long-standing traction on the eighth cranial nerve.
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ranking = 0.14285714285714
keywords = nystagmus
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8/38. Symptomatic arnold-chiari malformation and cranial nerve dysfunction: a case study of applied kinesiology cranial evaluation and treatment.

    OBJECTIVE: To present an overview of possible effects of arnold-chiari malformation (ACM) and to offer chiropractic approaches and theories for treatment of a patient with severe visual dysfunction complicated by ACM. CLINICAL FEATURES: A young woman had complex optic nerve neuritis exacerbated by an ACM type I of the brain. INTERVENTION AND OUTCOME: Applied kinesiology chiropractic treatment was used for treatment of loss of vision and nystagmus. After treatment, the patient's ability to see, read, and perform smooth eye tracking showed improvement. CONCLUSION: Further studies into applied kinesiology and cranial treatments for visual dysfunctions associated with ACM may be helpful to evaluate whether this single case study can be representative of a group of patients who might benefit from this care.
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ranking = 0.14285714285714
keywords = nystagmus
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9/38. optic flow induced nystagmus.

    A new form of nystagmus is described in this paper: optic flow induced nystagmus (OFN). Optic field flow, for example when driving or viewing films on a large screen, triggered non-fatiguable upbeat nystagmus. This type of nystagmus could not be induced by vestibular stimuli, positioning, or self motion. The aetiology and anatomical correlate of OFN remains unknown. Treatment with gabapentin suppressed OFN.
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ranking = 1.1428571428571
keywords = nystagmus
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10/38. Resolution of periodic alternating nystagmus after decompression for Chiari malformation.

    CASE REPORT: A 20-year-old female presented with horizontal jerk nystagmus, blurred vision, severe headaches, unsteady gait, and paresthesia. magnetic resonance imaging revealed Chiari malformation I. Symptoms resolved after decompression of the posterior cranial fossa and removal of the right cerebellar tonsil. COMMENTS: Conditions associated with acquired periodic alternating nystagmus and ocular disorders associated with Chiari malformation are discussed. To our knowledge, this case is the first to report the resolution of periodic alternating nystagmus after neurosurgical decompression.
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