Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
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BACKGROUND: The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) is a hereditary motor and sensory neuropathy linked to a variety of mutations in the connexin32 (Cx32) gene. Clinical and genetic features of CMTX have not previously been reported in Taiwanese. METHODS: Clinical evaluations and electrophysiological studies were carried out on 25 family members of a Taiwanese family group. Molecular genetic analysis of the Cx32 gene was performed. A sural nerve biopsy was obtained from 1 patient. RESULTS: Nine patients had clinical features of X-linked dominant inheritance and a moderate Charcot-Marie-Tooth (CMT) neuropathy phenotype. Molecular genetic analysis showed no mutation of the Cx32 coding region, but revealed a G-to-A transition at position -215 of the nerve-specific promoter P2 of the Cx32 gene. Ptosis is 1 clinical manifestation of neuropathy in this probable CMTX family. Familial hyperthyroidism is an additional independent feature of the family. Electrophysiological and histological studies showed features of axonal neuropathy. Multimodality evoked potential studies revealed normal central motor and sensory conduction velocities. CONCLUSIONS: The presence of ptosis in this family illustrates the existence of clinical heterogeneity among related family members with CMTX similar to that in CMT of autosomal inheritance. Electrophysiological and histological findings revealed normal central conduction and axonal neuropathy. (+info)
A case of surgical repair in strabismus fixus with ptosis.
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Strabismus fixus is very rare and the convergent form is rarely accompanied by blepharoptosis. We successfully treated one patient with high myopia whose convergent strabismus fixus, accompanied by blepharoptosis, became severe after cataract surgery. We report the case with a discussion of its pathology. We performed levator advancement operation, bilateral lateral rectus 11 mm resection, and bilateral medial rectus 8 mm recession. The suture was removed after maintaining temporary traction suture for 6 days. Blepharoptosis was completely corrected by postoperative 2 months. Esodeviation was 15PD, which was not increased compared with immediately after surgery. Satisfactory cosmetic outcome was obtained. (+info)
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
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PURPOSE: High-resolution orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of ocular motility abnormalities in humans with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) due to missense mutations in the developmental kinesin KIF21A. METHODS: Clinical ophthalmic and motility findings in 19 volunteers from six unrelated CFEOM1 pedigrees harboring four of the six reported KIF21A mutations and 23 normal control subjects were correlated with MRI studies demonstrating extraocular muscle (EOM) size, location, contractility, and innervation. RESULTS: Subjects with CFEOM1 had severe bilateral blepharoptosis, limited supraduction, and variable ophthalmoplegia. In affected subjects, MRI demonstrated atrophy of the levator palpebrae superioris and superior rectus EOMs and small or absent orbital motor nerves. The oculomotor nerve was most severely hypoplastic, but the abducens was also affected. EOMs exhibited variable atrophy and an abnormally bright T1 signal. Subjects with the R954W and R954Q substitutions frequently exhibited A-pattern strabismus, with misinnervation of the lateral rectus muscle by an oculomotor nerve branch. Rectus pulley locations were generally normal. Subjects with CFEOM1 exhibited subclinical but highly significant reduction from normal in mean optic nerve size (P < 0.001). Comparing clinical and MRI phenotypes did not reveal distinguishing features among KIF21A mutations. CONCLUSIONS: Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit. These findings suggest that neuronal disease is primary in CFEOM1, with myopathy arising secondary to abnormal innervation and minimal rectus pulley abnormality secondary to reduced EOM forces. (+info)
Efficacy and efficiency of a new involutional ptosis correction procedure compared to a traditional aponeurotic approach.
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PURPOSE: This was a retrospective study to compare the efficacy and efficiency of a new small anterior incision, minimal dissection ptosis procedure with that of a traditional anterior aponeurotic approach for the correction of aponeurotic ptosis. METHODS: The results of a chart and photograph review of 36 patients with 49 ptotic eyelids who had ptosis correction by a small-incision, minimal dissection procedure were compared with those of 36 patients with 49 ptotic eyelids who had ptosis correction by a traditional aponeurotic approach. RESULTS: The successful correction of the eyelid height and the rate of recommendation for reoperation were not significantly different for the 49 lids corrected in each arm of the study. The incidence of attaining good eyelid contour was significantly better in the small-incision group, where 41 (97.6%) of 42 lids evaluated by photographs had good contour compared with 29 (78.4%) of 37 lids in the traditional group. Operating time per lid was significantly less for the small-incision, minimal dissection group, 25.3 +/- 13.0 minutes (range, 13 to 68 minutes), compared with 55.4 +/- 16.6 minutes (range, 35 to 119) for the traditional group. CONCLUSIONS: Compared with the traditional aponeurotic approach, the new small-incision, minimal dissection technique for ptosis correction is equally efficacious in correcting eyelid height, superior in producing desirable eyelid contour, and much quicker to perform. (+info)
The use of apraclonidine eyedrops to treat ptosis after the administration of botulinum toxin to the upper face.
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A side effect of the injection of botulinum toxin into the upper third of the face is ptosis or lid droop. A therapy recommended to treat ptosis resulting from administration of botulinum toxins A and B is Iopidine (apraclonidine 0.5 %) eye drops. Apraclonidine is an alpha2-adrenergic agonist, which causes Muller muscles to contract quickly elevating the upper eyelid 1-3 mm. Little published data discusses the use of apraclonidine to treat such ptosis. This communication discusses the extant literature on this usage. Research needs to be done to establish the utility and dosing of apraclonidine for botulinum toxin-induced ptosis. (+info)
Pharmacological characterization of RP 62203, a novel 5-hydroxytryptamine 5-HT2 receptor antagonist.
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1. RP 62203 (2-[3-(4-(4-fluorophenyl)-piperazinyl)propyl]naphto[1,8- ca]isothiazole-1,1-dioxide) is a novel naphtosultam derivative which shows very high affinity for 5-HT2 receptors in the rat cerebral cortex (Ki = 50.0 pM). 2. RP 62203 is relatively selective for this sub-type of 5-hydroxytryptamine (5-HT) receptor, having lower affinity for the 5-HT1A receptor and very low affinity for the 5-HT, receptor. RP 62203 displayed low to moderate affinity for alpha 1-adrenoceptors, dopamine D2 receptors and histamine H1 receptors. 3. In vivo binding experiments demonstrated that oral administration of low doses of RP 62203 led to a long-lasting (greater than 6 h) occupation of cortical 5-HT2 receptors (ID50 = 0.39 mgkg-1). 4. In cortical slices from the neonatal rat, RP 62203 potently inhibited inositol phosphate formation evoked by 5-HT, with an IC50 of 7.76 nM. 5. The activity of neurones in the raphe and their responses to microiontophoretically applied 5-HT were studied with extracellular recording electrodes in the anaesthetized rat. RP 62203 potently and dose-dependently blocked excitations evoked by 5-HT when administered at doses of 0.5-4.0 mg kg-1, i.p. In contrast, neither 5-HT-evoked depressions nor glutamate-evoked excitations of raphe neuronal firing were blocked by RP 62203 at doses as high as 8.0 mg kg-1, i.p. 6. Head twitches induced by 1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane (DOI) could be abolished by low doses of RP 62203 in mice (ED50 = 0.44 mg kg-1, p.o.) and in rats (ED50 = 1.54 p.o.). Similar results were obtained with mescaline and 5-hydroxytryptophan (5-HTP). 7. The potency of RP 62203 was compared with that of three other 5-HT2 receptor antagonists, ritanserin, ICI 169,369 and ICI 170,809. In all models, RP 62203 showed similar activity to ritanserin, whilst either ICI 169,369 or ICI 170,809 was several fold less active. 8. It is concluded that RP 62203 is a potent and selective antagonist at 5-HT2 receptors in the rodent central nervous system. (+info)
A Korean case of Cornelia de Lange syndrome.
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PURPOSE: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance. She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect. In addition, she showed psychological lag and developmental impairment. RESULTS: We performed entropion correction surgery, administered medical therapy for superficial keratitis and prescribed glasses for her myopia. CONCLUSIONS: This is the first case report on the successful correction of entropion with Cornelia de Lange syndrome in Korea. (+info)
Congenital oculo-bulbar palsy.
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A girl developed progressive weakness of bulbar and ocular muscles starting before the age of two years. Electromyography revealed a widespread subclinical myopathy. An intercostal muscle biopsy showed complex abnormalities including occasional neurofilamentous accumulations and honeycomb-like membranous material in terminal axons. Endplates were small and some secondary synaptic clefts were abnormally deep. Acetylcholine receptors extended unusually deeply into the clefts of the junctional folds. Muscle fibres showed subsarcolemmal vacuolation at some places. This form of congenital oculo-bulbar palsy does not appear to have been described previously. (+info)