Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 59-year-old female was admitted with complaints of vertigo, dysarthria and dysphagia. On neurological examination, right-sided cranial nerve signs included ptosis, Bruns's nystagmus, decreased corneal sensation, diminished facial pain and temperature sensation, decreased palatal excursion and loss of gag reflex. There was no evident motor weakness, but deep tendon reflexes were slightly exaggerated on the left extremities. Coordination testing showed right cerebellar signs. Sensory examination of the remaining parts of the body was quite normal. X-ray CT scan showed multiple high density areas in the right medulla, right pons, right temporal and frontal lobes. T2 weighted MRI demonstrated these lesions as mixed signal intensity areas with marked low signal intensity rim. There were multiple black dots in the bilateral frontal and temporal lobes, cerebellar hemispheres on T2-weighted images. Carotid and vertebral angiograms showed no abnormality. This is the first report of the cavernous malformation presenting as lateral medullary syndrome.
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PMID:[Lateral medullary syndrome due to cavernous malformation in the brain stem]. 840 82

The cardio-facio-cutaneous (CFC) syndrome is an uncommon multiple congenital anomalies/mental retardation syndrome whose major manifestations are congenital heart defects, relative macrocephaly, stunted growth, ectodermal dysplasia, characteristic facial appearance, and psychomotor developmental delay. All described cases were sporadic and cytogenetically normal. We report three additional patients with this diagnosis. All three patients developed strabismus, requiring extraocular muscle surgery. Two of our patients also had nystagmus. Combining the 18 previously reported cases with our additional 3, 9 of 21 had strabismus, 10 of 21 had ptosis, and 6 of 21 had nystagmus. Ophthalmic craniofacial abnormalities of hypoplastic supraorbital ridges, prominent epicanthal folds, and antimongoloid slant of the palpebral fissures were also common features contributing to the characteristic facies described for this syndrome. The ophthalmologist could aid in the diagnosis and treatment of these patients because of the prominent ophthalmologic symptomatology of the CFC syndrome.
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PMID:The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome. 845 27

Clostridium botulinum A exotoxin (Botox) is the most potent toxin known to man. It produces a reversible paralysis of cholinergically innervated muscle, an effect useful in the management of non-accommodative strabismus and various disabling focal dystonias. In the present study, botulinum toxin (Botox) was used to treat congenital nystagmus, injecting the toxin into multiple horizontal rectus muscles at the same treatment session. Three of four patients achieved a significant enough change in acuity to receive daytime-restricted driver's licenses. No treatment was complicated by retrobulbar hemorrhage, ocular perforation, or ptosis. Two patients are continuing the Botox treatments every 3 to 4 months.
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PMID:The treatment of congenital nystagmus with Botox. 853 Oct 35

Abnormal eye movements and nystagmus are, when present, useful for diagnosis of localization of the lesion. Observations of mortality and range of eye movements, pursuit and saccadic eye movements, ability of visual fixation, nystagmus and involuntary eye movements as well as head and eye position, palpebral fissures, ptosis, pupils are important for assessment of eye movements. Anatomical pathways important for horizontal eye movements locate in the caudal pons and for vertical eye movements, in the rostral mesencephalon. In those structures two types of saccade related neurons--burst cells and pause cells-are present and generate premotor saccadic commands. The gaze directed nystagmus results from the central vestibular disorder, not from the peripheral labyrinthine lesion. Bruns' nystagmus characterized by low-frequency, large amplitude nystagmus on looking ipsilaterally and high-frequency, small-amplitude nystagmus on looking contralaterally, is seen in the brainstem lesion. Ocular bobbing consists of rapid downward movement of the eyes followed by a slower return to the primary position and is a sign of pontine lesion. Opsoclonus, multidirectional saccadic oscillation with out intersaccadic interval and flatter-like oscillation, purely horizontal saccadic oscillation are seen in patients with cerebellar and brainstem lesions and may be due to dysfunction of pause cells.
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PMID:[Diagnosis and clinical assessment of abnormal eye movements]. 875 94

Cytochrome c oxidase (CCO) deficiency is associated with various types of mitochondrial encephalomyopathy. The enzyme activities in different tissues and organs are varied. We report an 11-year-old girl with CCO deficiency, who presented with nystagmus, ptosis and optic atrophy. Her younger sister died of respiratory failure at 7 years of age and had the same initial clinical manifestations. Their parents were consanguineous. The girl had mild mental retardation and frequent premature ventricular contractions. Brain magnetic resonance imaging of the patient on admission revealed multiple lesions in both the gray and white matter. Except for arrhythmia and marked right axis deviation of the heart on electrocardiography, no other evidence of cardiac involvement was noted. Although a muscle biopsy was normal for both histochemical stains and electron microscopy, the enzyme assays in cultured skin fibroblasts revealed partial CCO deficiency, which may explain the clinical presentations.
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PMID:Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. 891 62

A case of midbrain and thalamic infarction which showed complete oculomotor nerve palsy of the ipsilateral eye and monocular downbeat nystagmus, ptosis, upward movement disturbance and adduction disturbance of the contralateral eye was reported. The patient is a 53-year-old woman who was admitted to our hospital because of sudden onset of double vision. Head magnetic resonance imaging showed unilateral midbrain and thalamic infarction. The midbrain lesion was located in the paramedian area and the bilateral ptosis, bilateral upward gaze palsy and adduction disturbance of the contralateral eye were considered to be caused by the lesion involving the unilateral oculomotor nucleus. This case is considered to be important because the association of contralateral monocular downbeat nystagmus is very rare.
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PMID:[Ipsilateral oculomotor nerve palsy and contralateral downbeat nystagmus due to unilateral paramedian thalamopenduncular infarction--a case report]. 893 7

Medial medullary infarctions (MMI) were reported in less than 40 patients with satisfactory clinicotopographic documentation. We studied seven patients with MRI-proven acute MMI seen in two neurologic departments over a 5-year period (1990-1994). MMI represented less than 1% of ischemic strokes in the posterior circulation. Five patients had an infarction above the pyramidal decussation. All patients had contralateral hemiparesis and lemniscal sensory loss, accompanied by ipsilateral lingual palsy (Dejerine's syndrome) in three. Two patients had infarction below the pyramidal decussation, with ipsilateral hemiparesis and lemniscal sensory loss. Accompanying symptoms and signs of MMI were vertigo and nausea (n = 5), mild ipsi- or contralateral decrease in pain sensation (n = 6), headache (n = 4), ipsilateral limb ataxia (n = 6), contralateral truncal lateropulsion (n = 5), mild ipsilateral ptosis (n = 4), nystagmus (n = 4), dysarthria (n = 3), and somnolence (n = 2). Presumed causes of MMI were stenosis, occlusion or dissection of the ipsilateral vertebral artery (n = 5), and cardioembolism (n = 1). Outcome at 3 months was favorable in five patients. In conclusion, the clinical features of MMI are more heterogeneous than commonly thought, whereas its etiology seems fairly constant (vertebral artery disease).
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PMID:Medial medullary stroke: report of seven patients and review of the literature. 971 65

The authors present ocular symptoms in 116 drug abusers. They have observed optic atrophy and defects in visual field in 9 cases, reduced convergence in 8 cases, slow pupillary reaction in 9 cases, ptosis in 3 cases, nystagmus in 2 cases, retinal haemorrhages in the nerve fibre layer in 2 cases, myopia in 45 cases and blepharoconjunctivitis in most of cases. The authors want to indicate the principal ocular signs in drug abusers in our country.
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PMID:[Examination of ocular lesions in drug abusers in Poland]. 964 21

The author presents an account on different causes of ophthalmological torticollis and rotational nystagmus in paresis of the trochlear nerve and abducent nerve, in Duan's syndrome I or acute Brown's syndrome or in bilateral ptosis combined with paresis of the levators. He recommends different surgical techniques and prefers combined operations performed with a single anaesthesia in pareses of the levators, the abducent nerve and trochlear nerve. For release of the horizontal direct muscles within the framework of paretic affections of the eye he recommends adjustable elongations as described by Gonin-Hollwich. In ptosis he uses frontotarsal suspension as described by Fox, using lyophilized fasciae. The paper contains also a family history of congenital fibrous syndrome.
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PMID:[Ocular torticollis]. 972 81

The ophthalmic, neurologic, and neuro-ophthalmic literature over the past year have included a wide variety of interesting case reports, patient series, and reviews involving eye movement abnormalities. This review highlights some of the more important articles and how they contribute to our understanding, diagnosis, and treatment of these disorders. A few topics will receive particular emphasis. In patients with sixth nerve palsies, botulinum toxin injection of the ipsilateral medial rectus muscle has been advocated. Recent results suggest that this treatment has no beneficial effect in acute sixth nerve palsies, but it may have a role in chronic cases. Two groups of authors, each supplying retrobulbar botulinum toxin injection for patients with acquired nystagmus and debilitating oscillopsia, obtained mixed results. One group of patients was moderately satisfied, whereas in the other group, no patients elected to repeat the treatment because of side effects such as ptosis, diplopia, or discomfort from keratitis. Finally, skew deviation is becoming a more recognized cause of vertical double vision from a central or peripheral basis. Articles published recently showed that cyclodeviation may be seen in skew deviation, and that binocular cyclotorsion distinguishes this motility abnormality from a fourth nerve palsy, which exhibits monocular excyclotorsion.
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PMID:Eye movement disorders. 1016 Apr 15


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