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)

The records of 469 institutionalised mentally retarded subjects were examined. Keratoconus and blindness were present in 8 per cent and 4 per cent of the ninety-one subjects with Down syndrome. Only one case of keratoconus was found among the 378 subjects with mental deficiency of other aetiology. The incidence of strabismus, nystagmus and cataract was also increased in subjects with Down syndrome, especially in females. Cases of acute keratoconus associated with Down syndrome reported in the world literature are summarised. A total of about forty cases has ben reported between the ages of nine and fifty-three years. Sight has been preserved equally well after both conservative management and keratoplasty in eyes with and without cataracts.
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PMID:Keratoconus and blindness in 469 institutionalised subjects with Down syndrome and other causes of mental retardation. 646 Jan 9

Visual functions were examined in 18 survivors of perinatal hypoxia/ischemia with mild to severe neurological sequelae, aged between 3 months and 17 years, and in two patients, aged 8 and 13 years, who had suffered postnatal hypoxic events. All but two patients showed clear visual deficits ranging from mild defects in visual acuity, visual field size, and/or optokinetic nystagmus to blindness. In 5 patients, the visual field was restricted to tunnel vision, a finding which appeared to be specifically related to the hypoxic/ischemic nature of the brain damage. The severity of the visual defects after perinatal hypoxia was related to the occurrence of neonatal seizures, later neurological outcome, and gestational age at birth. This is discussed in relation to previous studies of the effects of perinatal hypoxia/ischemia.
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PMID:Visual defects in children after cerebral hypoxia. 652 37

A previously healthy young woman presented with sudden onset of quadriplegia, anesthesia below the C3 dermatome, respiratory paralysis, vertical nystagmus, ocular bobbing and cortical blindness. After partial resolution of the latter deficits, she remained quadriplegic, with a C3 level of anesthesia, and in respiratory paralysis until death from complications of a fulminant pulmonary infection. Autopsy disclosed bilateral infarctions of the medial aspect of the medulla and the upper cervical cord, in the distribution of the anterior spinal artery. Multiple sites of arterial occlusion by fibrocartilaginous material were found in branches of the anterior spinal artery, in correspondence with the sites of infarction. A review of the literature disclosed only 2 examples of medial medullary syndrome from embolism to the anterior spinal artery.
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PMID:Medial medullary infarction from fibrocartilaginous embolism to the anterior spinal artery. 665 10

A 34-year-old woman showing the Riddoch phenomenon was studied by the technique of dynamic topography of visual evoked potential (VEP). This case had cortical blindness which developed during the process of massive intestinal hemorrhage, shock and surgery. The visual acuity was limited to hand movement, and perception of white and colored light was present, but there was no form recognition. Tracking eye movement for a flashlight was possible and optokinetic nystagmus (OKN) also appeared. CT-scan showed a diffuse low density area in the white matter of the occipital lobe. The VEPs by flash and a checkerboard of 60'-100' were detectable. Dynamic topography of the VEP showed that a strong negative deflection from the brainstem appeared at around 30 msec and this deflection expanded to the parietal region at about 90 msec. Subsequently, a positive deflection extending from the frontal region to the occipital region continued at 100 msec to 150 msec. Such a process of reaction is not observed in the normal subject. These findings suggest that the visual reaction was conducted abnormally through the extrageniculate system; from the brainstem to the parietal area and then to the occipital area.
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PMID:Dynamic topography of visual evoked potentials and extrageniculate projection in case of Riddoch phenomenon. 674 58

Congenital ocular toxoplasmosis is a significant cause of blindness. Retinochoroiditis is the most common finding, but other ocular manifestations include microphthalmus, nystagmus, strabismus, and ptosis. The serologic tests and lymphocyte stimulation test are the most useful aids in making the diagnosis. Pyrimethamine, sulfonamides, and corticosteroids are useful to treat active lesions. Primary care physicians, obstetricians, and ophthalmologists may help to prevent transmission of the disease and its serious ocular sequelae.
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PMID:Congenital ocular toxoplasmosis. 682 9

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.
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PMID:Bilateral optic nerve hypoplasia. 692 92

We investigated a group of patients who were blind because of disease affecting the anterior visual pathways. All subjects showed an inability to maintain steady eye position, with a consequent jerk nystagmus. Blindness from birth was associated with an impaired vestibuloocular reflex and inability to voluntarily initiate saccades, although quick phases of nystagmus were maintained. Acquired blindness was associated with relatively preserved vestibulo-ocular responses and the ability to initiate voluntary saccades and smoothly track self-moved targets. Certain features of the eye movements of the blind are similar to those due to cerebellar dysfunction.
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PMID:Eye movements of the blind. 696 68

The records of 37 patients with systemic lupus erythematosus (SLE) followed at The Children's Hospital of Philadelphia between 1968 and 1978 were reviewed for evidence of central nervous system (CNS) involvement. Criteria for CNS involvement included evidence of organic brain syndrome, electroencephalographic abnormalities with symptoms referable to CNS, or objective neurologic signs. Sixteen of 37 children had CNS involvement (43%). Thirteen patients had CNS involvement at the onset of SLE. Three patients had late onset CNS manifestations 1 to 2 years after the diagnosis of SLE. The most frequently observed symptoms were headache, behavior disorder, lethargy, diplopia, blurred vision, memory alteration, dizziness, and alteration of consciousness. The most frequently observed neurologic signs were seizures, cranial nerve palsy, ataxia, papilledema, nystagmus, meningitis, tremor, rigidity, cortical blindness, and coma. Neuropsychiatric manifestations included organic brain syndrome, functional psychosis, and personality disorder. Laboratory tests showed elevated cerebrospinal fluid opening pressure and protein, negative cultures, and abnormal electroencephalograms and computerized axial tomography scans. Fourteen of 16 children with CNS manifestations are alive. Thirteen had a mean IQ of 89 by the Wechsler Intelligence Tests. Twelve are in educational programs. One required long-term psychiatric care. A residual neurologic abnormality, a seizure disorder, was present in 3. CNS involvement with SLE in children carries a favorable prognosis.
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PMID:Central nervous system involvement in childhood systemic lupus erythematosus. 731 16

The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.
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PMID:Leber's congenital amaurosis with associated nephronophthisis. 739 8

Several birds in a flock of 40 Roller canaries (Serinus canaria) from an outdoor aviary in Victoria, Australia, developed central nervous system signs that included blindness, nystagmus, ataxia, and head rotation. Four died, and four were euthanatized. Two euthanatized birds were submitted for microscopic examination of tissues. Brain lesions in both birds consisted of scattered foci of nonsuppurative meningoencephalitis with gliosis, mild to moderately extensive lymphocytic/plasmacytic perivascular cuffs, and a patchy increased prominence of cerebral blood vessels associated with hypertrophy of the vascular endothelium and/or thickening of their connective tissue walls. These lesions were associated with the presence of Toxoplasma gondii tissue cysts. Lesions in the eyes of both birds were bilateral and consisted of severe plasmacytic/granulomatous ophthalmitis. Surviving birds were treated with trimethoprim and sulfadiazine, no subsequent deaths occurred, and no new cases developed over an 8-month period.
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PMID:Central nervous system toxoplasmosis in Roller canaries. 779 85


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