Aicardi's syndrome. A clinicopathological report.
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Agenesis of Corpus Callosum↗
Biomedical subjects
R C Polomeno
Publications and source records attributed to R C Polomeno.
Human strabismus: evaluation of the interhemispheric transmission time and hemiretinal differences using a reaction time task.
Experimentally induced strabismus in visually immature cats leads to abnormal development of the posterior corpus callosum. This, in turn, should lead to abnormal interhemispheric integration of unilaterally presented visual information. To test whether strabismus produces deficits in the human commissural visual system, the interhemispheric transmission time (ITT) was compared in strabismic and normal subjects. Simple unimanual reaction times (RT) were tested in 30 subjects in response to a lateralized target presented monocularly at 4 degrees and 35 degrees nasally and temporally from the fovea along the horizontal meridian. This method was also used to examine the effect of strabismus on the central and peripheral portions of each hemiretina. The results showed that in strabismic subjects with or without amblyopia, the ITT did not differ significantly from normals at both eccentricities. In non-amblyopic strabismic patients, RTs in the central and peripheral portions of hemiretina were comparable to normals. However, a reduced speed of response was found in the central visual field (4 degrees) in the amblyopic eye. Our results suggest that the ITT is normal in strabismic subjects and that the longer RTs in the central portion of the nasal and temporal hemiretina of the amblyopic eye may be associated with the severe amblyopic condition.
Adolescent↗
Congenital orbital teratoma: a clinicopathological case report including immunohistochemical staining.
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Cytoskeletal Proteins↗
Ocular findings and visual evoked potential response in the Prader-Willi syndrome.
It has recently been suggested that aberrant misrouting of retino-geniculate-cortical (RGC) projections, a finding previously noted only in albinism, may be an additional feature of the Prader-Willi syndrome. To determine the prevalence of ocular abnormalities in patients with the syndrome and to look for evidence of misrouted RGC projections by means of testing of the pattern-onset visual evoked potential (VEP) response, we examined 12 patients with Prader-Willi syndrome, 8 albino subjects and 5 healthy control subjects. Ocular findings in the first group included telecanthus (in five subjects), strabismus, nystagmus, foveal hypoplasia, visual field defects and cataract. However, the VEP asymmetry typically seen in albinism was not noted in any of the patients with Prader-Willi syndrome. Our findings do not support previous claims of abnormal optic nerve fibre decussation in Prader-Willi syndrome.
Adolescent↗
The importance of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.
We describe a family with familial adenomatous polyposis (FAP) and congenital hypertrophy of the retinal pigment epithelium (RPE). Three of five members with FAP showed flat, well-demarcated, round to oval pigmented patches of congenital hypertrophy of the RPE. We stress the importance of congenital hypertrophy of the RPE as a clinical marker in identifying patients with FAP since they are at risk for cancer.
Adenomatous Polyposis Coli↗
Jaw muscle tension after succinylcholine in children undergoing strabismus surgery.
The increases in tension at the masseter and adductor pollicis muscles following succinylcholine, 1 mg.kg-1, during halothane anaesthesia were measured in eight children, 3-10 yr, with strabismus. The results were compared with those obtained in a control group of general surgical patients. Supramaximal train-of-four (TOF) stimulation was applied to the ulnar nerve and the nerve to the masseter simultaneously. Jaw closure was measured by a force transducer system. In all patients, succinylcholine caused an increase in resting tone at the jaw and at the thumb. In the strabismus group, the magnitude of this increase was 55.7 +/- 23.2 g, mean +/- SD, at the jaw and 11.3 +/- 5.6 g at the thumb. This was not significantly different from the values obtained in controls, 45.3 +/- 33.4 g and 7.9 +/- 4.2 g, respectively. The duration of the phenomenon was 1-2 min in both muscles studied, and was not statistically different in the strabismus group. Time to complete neuromuscular blockade was significantly faster at the masseter, 31 +/- 6 sec--control groups; 39 +/- 11 sec--strabismus group, than at adductor pollicis, 61 +/- 34 sec--control groups; 75 +/- 28 sec--strabismus group (P less than 0.05 and 0.013 respectively). It is concluded that succinylcholine causes similar increases in jaw tension and comparable degrees of neuromuscular blockade in patients undergoing strabismus surgery as in other children.
Anesthesia, Inhalation↗
The effect of diphenylhydantoin on the electroretinogram.
Acute administration of diphenylhydantoin (DPH) in rabbits produces a significant increase in the amplitude of the a-wave. A marked increase in the amplitude of the b-wave is also noted but the time course is slower than that for the a-wave. While in controls the oscillatory potential (OP) recordings essentially consist of three major types, recordings taken after DPH injection consist of one major OP (OP2), which appears to be a result of the fusion of the original OP2 with another OP produced by the DPH injection. A similar blend of OPs was also seen in ERGs recorded from three human subjects on DPH therapy.
Adolescent↗
Postoperative vomiting following strabismus surgery in paediatric outpatients: spontaneous versus controlled ventilation.
The study was designed to compare the frequency and severity of postoperative vomiting in paediatric out-patients receiving controlled ventilation (IPPV) or breathing spontaneously (SV) during anaesthesia for strabismus repair. One hundred and twenty unpremedicated children (ages 2-12 years) were studied in a randomized fashion. After intravenous induction of anaesthesia and tracheal intubation, patients breathed halothane 1-1.5 per cent inspired and N2O 66 per cent in O2 spontaneously (n = 60), or received IPPV, halothane 0.5-1 per cent, N2O 66 per cent, and pancuronium 0.05 mg.kg-1, which was reversed with neostigmine and atropine (n = 60). The incidence of vomiting with SV was 50 per cent (95 per cent confidence limits: 34.5-65.5 per cent) compared with 40 per cent (24.5-55.5 per cent) with IPPV (p greater than 0.25). Patients in the SV group experiencing emesis had longer operations than those not vomiting (mean +/- SEM = 1.5 +/- 0.1 vs 1.2 +/- 0.1 hours, p less than 0.005). This was not the case with IPPV. There was no correlation between age, sex, duration of surgery, or number of extraocular muscles repaired, and frequency or severity of vomiting or time to discharge. No significant advantage was afforded by IPPV over SV in the present study.
Child↗
Herpes zoster ophthalmoplegia. Report of six cases.
Ophthalmoplegia occurs infrequently in herpes zoster ophthalmicus. The third nerve appears to be the most commonly affected and the fourth nerve the least. We describe herein the clinical course of six patients with herpes zoster ophthalmoplegia. Spontaneous recovery occurred in four patients. The pathogenesis and clinical features of this syndrome are described.
Abducens Nerve↗
Abnormal dark-adapted electroretinogram in Best's vitelliform macular degeneration.
It is generally well accepted that in Best's vitelliform macular degeneration (BVMD) the electroretinogram (ERG) is normal whereas the electro-oculogram (EOG) is markedly abnormal. We describe a patient in whom BVMD was suspected on the basis of the clinical findings, EOG and family history (one of her daughters had the typical vitelliform lesion). However, her dark-adapted ERG was markedly abnormal. Similar anomalies were found in the dark-adapted ERG of the daughter. While the temporal features of the various ERG waves were well preserved, a substantial decrease in the amplitude of specific segments of the ERG signal was observed. A similar decrease in the amplitude of the oscillatory potentials was also found. We believe that this unusual combination of BVMD and abnormal dark-adapted ERG may be due to the reported reduced penetrance and variable expressivity of the BVMD gene(s).
Adult↗
Autosomal recessive Duane's retraction syndrome.
The first two cases of probable autosomal recessive Duane's retraction syndrome, in two siblings, are reported.
Child↗
Nonhealing corneal defects due to herpes simplex in children.
Two young children with unilateral photophobia, redness, blepharospasm and corneal epithelial defects unresponsive to conservative therapy were seen between December 1982 and June 1983. Herpes simplex virus was established as the causal agent in both cases, only after the children had been examined under general anesthesia and appropriate cultures obtained. The difficulties in diagnosing herpetic keratitis in children and the treatment and long-term prognosis are discussed.
Child, Preschool↗
Norrie's disease in a French-Canadian kindred: attempt to detect carriers by DNA analysis.
In a French-Canadian kindred four male cousins are affected with Norrie's disease, a rare X-linked recessive disorder. Three have university education, and the fourth has some developmental delay. Only one is microcephalic. All have mild to severe hearing deficit, although only three were aware of their hearing loss. Linkage analysis of DNA from family members with the probe L1.28 failed to detect female carriers.
Adult↗
Traumatic disinsertion of the superior rectus.
The authors report the findings and management of traumatic disinsertion of the superior rectus occurring in a 55-year-old woman.
Diplopia↗
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.
We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence. A fifth had preaxial polydactyly. Duane anomaly was present in two sixth-degree relatives. This appears to be an autosomal dominant trait. Singly or in combination the abnormalities seen in this family have all been described in association with Duane anomaly. Their occurrence in the same family suggests that they are not independent entities but represent pleiotropic effects of the same gene.
Abnormalities, Multiple↗
Waardenburg syndrome--penetrance of major signs.
We have estimated that 83% of individuals carrying the gene for Waardenburg syndrome type I show penetrance of the gene as measured by dystopia canthorum. This is lower than previous estimates, which failed to consider the frequency of equivocal dystopia in the general population. The addition of three other major signs (hearing loss, white forelock, and premature graying of the hair or vitiligo) does not substantially increase the discrimination of gene carriers (85% versus 83%). We estimate that about 75% of the first-degree relatives of probands can be assigned as normal or a gene carrier on the basis of the four major signs.
Abnormalities, Multiple↗
Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies.
Lenz microphthalmia is a syndrome of microphthalmia accompanied by multiple congenital anomalies, none of which is unique to the syndrome. The patient described in this paper had, in addition to the microphthalmia, dysmorphic facies and dental anomalies, several features not previously described in this syndrome: synophrys, an isolated cleft of the soft palate, a webbed neck and sacral pits. Other congenital syndromes associated with microphthalmia (oculodentodigital dysplasia, cryptophthalmos and the 10q+ syndrome) were excluded. The frequency of the anomalies described in 22 case reports is presented as a guide to diagnosis in isolated cases.
Abnormalities, Multiple↗
The photopic electroretinogram in congenital stationary night blindness with myopia.
Previous studies have reported that subjects affected with congenital stationary night blindness and myopia demonstrated some photopic (cone) abnormalities in their electroretinogram (ERG). By comparing the photopic ERG elicited with a threshold and a suprathreshold stimulus it was found that, at threshold, no significant differences were noted both in the peak time and in the amplitude of ERGs evoked from CSNB and normal subjects. However, a more powerful stimulus (16 times the threshold) yields a significant difference in the ERGs recorded from the two groups. ERGs recorded from CSNB patients are decreased in amplitude with a b-wave peak time that remains normal. First derivative analysis of the ERG wave along with a selective recording of the oscillatory components of the ERG suggest that the only visible anomaly in the suprathreshold photopic ERG of CSNB patients is an absence of the two oscillations normally seen on the ascending portion of the b-wave. Data obtained on normal subjects are also reported that try to explain the functional significance of these two oscillatory potentials.
Electroretinography↗