Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).
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PMID:18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male. 51 88

A 41-year-old man was doing well until July 1989, when he noted numbness over soles, followed 4 months later by difficulty in walking. These symptoms were progressively getting worse, and he was admitted to our department on June 12, 1990. General physical examination was unremarkable. Neurologically cranial nerves were intact except old right, traumatic strabismus. Muscle tone and deep tendon reflexes were normal throughout, but bilateral Babinski and Chaddock reflexes were present. Mild weakness of lower extremities were found on muscle testing (4/5). In sensory system, superficial sensory disturbance below T10 was seen, and markedly diminished vibration and position senses of lower extremities were noted. Cerebellar test was intact, although unsteadiness was found on heel-shin test. Romberg sign was definitely positive. His gait was wide-based and ataxic. Laboratory data showed no abnormalities in CBC, chemistry, urinalysis, serological tests and endocrinological examinations. Spinal MRI (Siemens 1.5 Tesla) showed abnormal deposition of epidural fatty tissues compressing spinal cord with flattening of cord from T4 to T8. Spinal ataxia as compressive myelopathy due to epidural lipomatosis was considered and he underwent laminectomy from T4 to T8 with improvement in walking. Epidural lipomatosis is an unusual cause of spinal cord compression, presenting compressive myelopathy, radiculopathy, cauda equina syndrome, intermittent claudication, or back pain. Most of cases were associated with long-term administration of adrenocortical steroid hormone, or underlying diseases, except only 3 cases including ours. This is the first case of spinal epidural lipomatosis presenting progressive gait disturbance due to spinal ataxia.
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PMID:[A case of epidural lipomatosis presenting spinal ataxia]. 206 Feb 46

A congenital myope developed a 20 delta left esotropia at 8 months of age. His eyes aligned immediately with a -4.00 D correction and would become esotropic when the glasses were removed. Before eyeglass wear best corrected acuity was reduced for both eyes with the left eye acuity significantly lower than the right. From age 8 to 12 months with part-time eyeglass wear, acuity improved and became equal for the two eyes. At 12 months of age the eyeglasses were lost and within 1 month the strabismus no longer responded to minus lenses and amblyopia reappeared in the left eye. This indicates that a myopic infant may stop bifixating blurred images beyond his far point and then cease to be able to relax convergence thereafter. It has the broader implication that tonic vergence posture and AC/A ratio may develop according to the visual experience of each infant.
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PMID:Congenital myopic esotropia: a case study. 394 93

1. Guillery has recently shown that the Siamese cat has a grossly abnormal lateral geniculate body. His anatomical study suggested that certain fibres originating in the temporal retina of each eye cross in the chiasm instead of remaining uncrossed. They thus reach the wrong hemispheres, but in the geniculate they terminate in the regions that the missing fibres from the ipsilateral eye would normally have occupied. The result is that each hemisphere receives an input from parts of the ipsilateral field of vision, this input being entirely from the opposite eye. The purpose of the present work was to study the physiological consequences of this aberrant projection, in the lateral geniculate body and visual cortex.2. Single-cell recordings from the lateral geniculate body confirmed the presence of projections from the ipsilateral visual field of the contralateral eye. The part of layer A(1) receiving these projections was arranged so that the receptive fields of the cells were situated at about the same horizontal level and at the same distance from the vertical meridian as the fields of cells in the layers above and below (layers A and B), but were in the ipsilateral visual field instead of the contralateral. They thus occupied a region directly across the mid line from their normal position.3. In the cortex of all animals studied, we found a systematic representation of part of the ipsilateral visual field, inserted between the usual contralateral representations in areas 17 and 18. When the visual cortex was crossed from medial to lateral the corresponding region of visual field moved from the contralateral periphery to the mid line, and then into the ipsilateral field for 20 degrees . The movement then reversed, with a return to the mid line and a steady progression out into the contralateral field. The entire double representation was, with some possible exceptions, a continuous one. The point of reversal occurred at or near the 17-18 boundary, as judged histologically, and this boundary was in about the same position as in ordinary cats.4. Cells in the part of the cortex representing the ipsilateral fields had normal receptive fields, simple, complex, or hypercomplex. These fields tended to be larger than those in corresponding parts of the contralateral visual fields. Receptive-field size varied with distance from the area centralis, just as it does in the normal cat, so that cells with the smallest fields, in the area centralis projection, were situated some distance from the 17-18 border.5. Projections originating from the first 20 degrees from the midvertical in both visual half-fields had their origin entirely in the contralateral eye, as would be expected from the abnormal crossing at the chiasm. Beyond this visual-field region, and out as far as the temporal crescents, there were projections from both eyes, but we found no individual cells with input from the two eyes. The cells were aggregated, with some groups of cells driven by one eye and some by the other.6. From previous work it is known that ordinary cats raised with squint show a decline in the proportion of cells that can be driven binocularly, whereas animals raised with both eyes closed show little or no decline. A Siamese cat raised with both eyes closed had binocular cells in the regions of 17 and 18 subserving the peripheral visual fields, suggesting that the absence of binocular cells seen in the other Siamese cats was indeed secondary to the squint.7. In two Siamese cats there were suggestions of an entirely different projection pattern, superimposed upon that described above. In the parts of 17 and 18 otherwise entirely devoted to the contralateral visual field, we observed groups of cells with receptive fields in the ipsilateral field of vision. The electrode would pass from a region where cells were driven from some part of the contralateral visual field, to regions in which they were driven from a part of the ipsilateral field directly opposite, across the vertical mid line. The borders of these groups were not necessarily sharp, for in places there was mixing of the two groups of cells, and a few cells had input from two discrete regions located opposite one another on either side of the vertical mid line. The two receptive-field components of such cells were identical, in terms of orientation, optimum direction of movement, and complexity. Stimulation of the two regions gave a better response than was produced from either one alone, and the relative effectiveness of the two varied from cell to cell. These cells thus behaved in a way strikingly reminiscent of binocular cells in common cats.8. The apparent existence of two competing mechanisms for determining the projection of visual afferents to the cortex suggests that a number of factors may cooperate in guiding development. There seems, furthermore, not to be a detailed cell-to-cell specificity of geniculocortical connexions, but rather a tendency to topographic order and continuity, with one part of a given area such as 17 able to substitute for another. Whether or not these tentative interpretations are ultimately proved correct, it seems clear that this type of genetic anomaly has potential usefulness for understanding mechanisms of development of the nervous system.
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PMID:Aberrant visual projections in the Siamese cat. 513 Jun 20

Treatment of retinoblastoma with argon laser photocoagulation in a five-month-old boy is described. His right eye had been enucleated for a large retinoblastoma. A small lesion in the left eye was successfully treated with argon laser. The patient has retained good vision without any complication and there has been no evidence of recurrence for four years.
J Pediatr Ophthalmol Strabismus
PMID:Treatment of retinoblastoma with argon laser photocoagulation. 654 37

We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.
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PMID:A new X-linked multiple congenital anomalies/mental retardation syndrome. 671 4

A male, born on December 8, 1956, during the period when many Minamata diseases broke out in a district. His parents who ate much fish and shell fish taken in Minamata Bay suffered from the light, incomplete Minamata disease showing sensory disturbance, the constriction of the visual field, muscular weakness, etc. He weighed 3,225 gr. upon the normal birth given 10 months after pregnancy. His abnormalities were noted since his head was not stabilized on the neck even six months after the birth. Because of the delay in the development of the motor function, he became barely able to sit, stand up and begin walking at the ages of 3, 5 and 6 respectively. In 1962 (at the age of 6), his congenital Minamata disease was diagnosed in view of his clinical symptoms and epidemiological conditions. The mercury value in the hair and blood upon the birth is not known because a considerable time had elapsed after the birth when his mercury poisoning was discovered. However, the clinical symptoms included intelligence disturbance, character change, dysarthria, primitive reflexes, strabismus, hypersalivation, ataxia and hyperkinesia, indicating a typical congenital Minamata disease. Until he became 13 years old (1969) or so, his mental and motor function developed, both gradually. In the same year, he was admitted to a special class for the handicapped. EEG examination revealed that there was a slow alpha activity in the basic pattern and that 6 Hz positive spike was found in the sleep EEG. The constriction of the visual field was classified through examination.2+
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PMID:[Congenital Minamata disease accompanied by arachnoid cyst (author's transl)]. 709 64

The auditory brainstem response (ABR) was studied in an infant with Gaucher's disease. The infant was normal until the age of three months. His illness began with stridor, strabismus, inguinal hernia and failure to thrive. Thereafter, muscular rigidity with opisthotonus, ocular palsies, difficulty in swallowing and respiratory failure due to central origin developed. He died of respiratory failure due to central origin developed. He died of respiratory failure at the age of one year and four months. The ABR was abnormal at six and eight months of age. Initially, at the age of six months, there was a lengthening of the peak latencies of wave I, II and III and disappearance of the waves after IV. But at eight months, more marked lengthening of the peak latencies of the waves and the disappearance of waves after III were noted as his general condition deteriorated. The autopsy revealed relative preservation of the nuclei and tracts of the auditory pathways in the brainstem. The ABR was useful for monitoring the progress of the disease in this patient because it made detection of brainstem lesions possible.
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PMID:Auditory brainstem response (ABR) in infantile Gaucher's disease. 715 5

We report on a 3-year-old boy with an interstitial duplication of 7(q22-->q34), confirmed with fluorescent in-situ hybridization. He had post-natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22-->q31).
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PMID:Interstitial duplication of 7(q22-->q34). 813 85

The authors describe two cases of penetrating ocular trauma in children resulting from ninja stars. In the first case, despite a scleral laceration, loss of iris tissue, and a vitreous hemorrhage, the child had a good result with a final best corrected visual acuity of 20/20. Unfortunately, the child in the second case did not fare as well. In this case, the child suffered a large corneal laceration and traumatic cataract. He ultimately required a penetrating keratoplasty, and he is currently being treated for amblyopia, strabismus, and elevated intraocular pressures. His best corrected visual acuity is 20/70.
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PMID:Severe penetrating ocular injury from ninja stars in two children. 1147 3


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