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)

In a 19-year-old man sudden Bell's palsy developed and after 2 days vertigo and peripheral-type nystagmus supervened. ENG demonstrated presence of spontaneous nystagmus on right gaze and lack of excitability of the left horizontal canal. The cerebrospinal fluid was normal, virological examination failed to demonstrate presence of antibodies to zoster virus or a rise of antibodies to enteroviruses. Vertigo and nystagmus disappeared within several days. Bell's palsy regressed later. The results of virological investigations cast doubt on the views of these authors who regard Frankl-Hochwart syndrome as a variety of Ramsay Hung Syndrome. In the presently reported case the possibility of zoster virus being the cause of the disease has been ruled out.
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PMID:[Case of Frankl-Hochwart syndrome (polyneuritis cranials menieriformis)]. 88 15

Auditory and vestibular functions were investigated in a patient with atypical Cogan's Syndrome. The brainstem auditory evoked response revealed bilateral severe distortion of morphology and voltage diminution after potential I, greater in right ear recordings. Interwave latency I-III was increased bilaterally. Electronystagmographic studies showed nonfatigable direction changing positional nystagmus greater with right ear undermost and bilateral failure of optic suppression. Findings suggested bilateral pontocerebellar dysfunction. Correlation was found with the side of greater clinical manifestations. The patient had excellent recovery of auditory and vestibular functions with administration of corticosteroids within 2 weeks of the onset of hearing impairment. She was followed up with auditory and vestibular studies for 30 months.
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PMID:Evidence of central vestibulo-auditory dysfunction in atypical Cogan's syndrome: a case report. 201 1

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
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PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

5 members of a family with periodic cerebellar dysfunctions are described. This rare disorder occurred in the early childhood and is characterised by episodes lasting minutes to hours with severe cerebellar ataxia, dysarthria, diplopie, nystagmus, vertigo and vegetative symptoms. The examinations between attacks are almost normal. The inheritance appears to be autosomal dominant. An atrophy of the cerebellar vermis was found in two patients. Syndrome and investigation results were compared to the seven papers according this disorder, which were published until now.
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PMID:[Familial episodic ataxia]. 407 4

We report the case of a mature newborn infant, which aroused attention 8 hours after birth due to an unexplainable paroxysmal tachypnea together with subsequently prolonged apnea. The combination of tachypnea, athetoid movement patterns, apraxia of the tongue, nystagmus and dysplasia of the cerebellum with dilation of the 4th ventricle, led to the diagnosis of Joubert-Syndrome. The child also showed a variation of a connatal unilateral facial nerve palsy, which has not previously been described in connection with a Joubert-Syndrome.
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PMID:[Joubert syndrome combined with unilateral facial paralysis: a rare variant of Joubert syndrome]. 779 18

In the Royal Victoria Hospital dizziness clinic, 1194 of 9767 (12.22%) patients were 70 years of age or older on the day of the first visit. There were 750 women and 444 men, with no difference in age distribution (p > 0.9). In 367 (27.04%) cases (percentages given as "cases" refer to the number of diagnoses [N = 1357], not the number of patients [N = 1194]), the symptoms were nonspecific, and the diagnosis was uncertain. In 530 (39.13%) patients, paroxysmal positional vertigo was either confirmed or strongly suspected. In the 241 of 254 (94.88%) confirmed cases, the observed paroxysmal nystagmus was compatible with excitation of the posterior semicircular canal. In 119 (8.77%) patients, the dizziness could not be attributed to neurologic or vestibular disease. Meniere's disease, vestibular neuronitis, vascular episodes, and tumors were next in prevalence. The following conclusions were reached: (1) although no difference was found in age distribution between women and men, dizziness was more prevalent among women, which may be because of the higher survival rate of women; (2) the prevalence of paroxysmal positional vertigo was high, with apparent involvement of the posterior semicircular canal in most cases (it is strongly suspected that paroxysmal positional vertigo is frequently misdiagnosed as vascular disease in advanced age); and (3) multisensory deficits, drugs, or systemic diseases, common in the elderly, may cause dizziness. Syndromes affecting the vestibular function, however, may be more prevalent in advanced age than is generally estimated.
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PMID:Dizziness in aging: a retrospective study of 1194 cases. 813 40

The analysis of twenty-one observations with Peter Syndrome, shows that the disease was established by a disorder in the development of the mesoderm who gives birth at the posterior, stratum of cornea, iris stroma and angle of the posterior chamber. The disease was associated with cataract (nine cases), strabismus (seven cases), congenital glaucoma (five cases), microophthalmia (three cases), microcornea (four cases), remainders of the pupillary membrane (one case), vitreous opacities (one case), facial malformations (one case), congenital dacryocystitis (one case), nystagmus (four cases). The presence at the same patient of the posterior keratoconus or staphiloma of cornea at one eye and Peter syndromme at the other eye, is possible to say that these diseases are evolutionary stages by one and the same mesodermal disgenesia.
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PMID:[Ocular manifestations in Peters' syndrome]. 871 80

We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. Review of the literature depicted phenotypic variability of BGS. The presence of affected sibs the offspring of consanguineous parents confirms autosomal recessive inheritance. The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. Awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS.
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PMID:Expanding the phenotypic spectrum of the Baller-Gerold syndrome. 1457 74

Behr syndrome was first described in 1909 as a syndrome of heredofamilial optic atrophy, visual disturbances, nystagmus, and variable pyramidal tract signs. The syndrome has been reported in both sexes. So far, tremor has not been reported to be part of Behr Syndrome. We present the case of a 51-year-old man with a rare complicated dominant inherited cerebellar ataxia with accompanying visual loss and tremor (CICALVT) resembling a Behr Syndrome variant who suffered from advanced visual deterioration since childhood and progressive spastic paraparesis for 15 years. Furthermore, the patient presented increasing tremor of both hands for 5 years. The successful treatment of the tremor using deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus (VIM) is reported. Our case indicates that deep brain stimulation of the ventral intermediate nucleus is an adequate operative intervention that can help to reduce tremor even in patients with complicated movement disorders.
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PMID:Behr syndrome variant with tremor treated by VIM stimulation. 1577 Mar 48

Vertebral artery dissection is one of the more frequent cerebral-vascular disorders in the young adult. The initial symptoms rarely consist of vertigo with clinical characteristics of Selective Monolateral Acute Vestibular Deficit Syndrome. The case is described of a patient, who arrived with intense rotatory vertigo associated with neurovegetative symptoms and spontaneous nystagmus, which we initially diagnosed as right neuronitis. About 48 hours later, the symptoms of vertigo disappeared spontaneously, and prevalently nuchal cephalea appeared. Since the symptoms were atypical and the otoneurologic study revealed normal canalar and otholithic function, a cerebral nuclear magnetic resonance, with contrast, was carried out which showed the presence of multiple areas of cerebellar ischaemia, prevalently on the left, and at the level of the right occipital lobe. Study of the patient was completed with an intracranial angio-nuclear magnetic resonance of the neck arteries and cerebral angiography the findings of which were compatible with left vertebral artery dissection. It is important to emphasize, as reported in the literature, that in cases in which atypical evolution of the pathology appears, or instrumental data do not confirm initial suspicions, a more scrupulous study is always necessary in order to find a possible central cause. Among the central causes, it should not be forgotten that multiple small cerebellar strokes (more frequent in elderly patients) and even more rarely also vertebral artery dissection (which is typical of younger patients) may become evident in a clinical picture that is almost identical to that seen in selective monolateral acute vestibular deficit syndrome.
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PMID:Vertebral artery dissection as a rare cause of vertigo: case report. 1587 10


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