1/15. Common deletion of mitochondrial dna in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers.A girl aged 4 years and 10 months presented with failure to thrive, ptosis, ragged-red fibers and the common 4.9 kb mitochondrial dna deletion. She had elevated serum lactic and pyruvic acids. The onset was at around 18 months. There were no signs of retinitis, and abnormal renal, liver or pancreatic functions. She later developed mild ophthalmoplegia at 6 years of age. Additional features of chronic progressive external ophthalmoplegia (CPEO) or kearns-sayre syndrome (KSS) are the conditions that should be watched and investigated in the long-term follow-up of this girl.- - - - - - - - - - ranking = 1keywords = chronic progressive (Clic here for more details about this article) |
2/15. Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia.PURPOSE: To report chronic exposure keratopathy related to surgical ptosis correction in patients with chronic, progressive, external ophthalmoplegia. methods: case reports of three patients with chronic exposure keratopathy following blepharoptosis surgery. RESULTS: We report three patients with chronic progressive external ophthalmoplegia with chronic corneal complications after surgical ptosis repair. All three gave a history of blepharoptosis and extraocular muscle dysfunction. Each presented with chronic corneal ulceration. All had histories suggestive of ophthalmoplegia. Treatment of corneal ulceration necessitated hospitalization and surgical intervention. CONCLUSION: patients with chronic, progressive, external ophthalmoplegia have little ability to properly protect the eye from exposure and are at risk for corneal damage. A thorough ophthalmic history and examination before ptosis surgery may prevent the corneal complications resulting from surgical intervention.- - - - - - - - - - ranking = 4keywords = chronic progressive (Clic here for more details about this article) |
3/15. multiple sclerosis with caudate lesions on MRI.A 31-year-old woman displayed sleepiness and impairment of recent memory. T2-weighted MRI revealed high signal intensity lesions in the bilateral basal ganglia, thalamus, and brainstem. Although remission was achieved with corticosteroid therapy, she again displayed memory dysfunction and emotional disturbance one year later, at which time MRI disclosed new lesions in the right caudate nucleus and left frontal white matter. Corticosteroid therapy lead to improvement, and she suffered no recurrence on maintenance steroid therapy. These findings suggest that caudate lesions do occur in multiple sclerosis, the manifestations of which can be abulia and memory dysfunction, as in the present case.- - - - - - - - - - ranking = 0.0017088431732734keywords = sclerosis (Clic here for more details about this article) |
4/15. Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.BACKGROUND: Chronic Progressive External ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so. CASE REPORT: We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.- - - - - - - - - - ranking = 4keywords = chronic progressive (Clic here for more details about this article) |
5/15. Diagnostic value of mitochondrial dna mutation analysis in juvenile unilateral ptosis.PURPOSE: To highlight the diagnostic relevance of mitochondrial dna (mtDNA) mutation analysis in acquired juvenile unilateral upper eyelid ptosis. methods: A 13-year-old boy presented with acquired, slowly progressive unilateral ptosis. We performed ophthalmological and neurological examinations, laboratory testing, skeletal muscle biopsy including histological and histochemical investigations, biochemical analysis of respiratory chain enzymes in skeletal muscle homogenate and molecular genetic testing of skeletal muscle dna. RESULTS: Though clinical, laboratory, histological and biochemical analyses did not reveal any hints suggesting a mitochondrial cytopathy, molecular genetic testing by Southern blot analysis of total dna from skeletal muscle tissue showed a 5.8 kb mtDNA deletion thus proving the diagnosis of mitochondrial chronic progressive external ophthalmoplegia (CPEO). CONCLUSIONS: In patients with unexplained acquired juvenile unilateral ptosis, an underlying mitochondrial cytopathy should be considered even in cases of inconspicuous ancillary examinations comprising skeletal muscle histology and biochemistry. To establish the diagnosis, molecular genetic testing of dna derived from skeletal muscle tissue is essential in those patients.- - - - - - - - - - ranking = 1keywords = chronic progressive (Clic here for more details about this article) |
6/15. Eyelid leishmaniasis in a patient with neurogenic ptosis.A patient with chronic progressive external ophthalmoplegia contracted cutaneous leishmaniasis of the upper eyelid. infection of this site is rare because eyelid movements usually prevent the sandfly vector from biting the skin there. It is postulated that the relative immobility of the upper eyelid in this patient was a major predisposing factor for the infection.- - - - - - - - - - ranking = 1keywords = chronic progressive (Clic here for more details about this article) |
7/15. Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia.Chronic progressive external ophthalmoplegia (CPEO) is a neuromyopathic disorder characterized by progressive weakness of the extraocular and levator muscles, which causes blepharoptosis and impairment of ocular motility. Because of the risk of worsening of lagophthalmos and exposure keratitis due to an associated poor Bell phenomenon or weak orbicularis function, surgical treatment of the blepharoptosis caused by CPEO is problematic. We present our experience with a case of blepharoptosis in CPEO. CASE: A 61-year-old woman presented with slowly progressive bilateral blepharoptosis. A muscle biopsy of the rectus femoris revealed mitochondrial abnormalities, which satisfied the definition of the diagnosis of CPEO as mitochondrial encephalomyopathy. The lid opening was 2 mm, with maximal frontalis contraction, the levator function was zero, and the eyeball movement was severely limited. The blow movement was about 6 mm. Combination of modest blepharoplasty and frontalis suspension using a monofilament suture was performed. The postoperative result was satisfactory, and the patient's quality of life was markedly improved.- - - - - - - - - - ranking = 4keywords = chronic progressive (Clic here for more details about this article) |
8/15. orbital pseudotumor of the levator muscle.A 58-year-old white man with chronic progressive external ophthalmoplegia developed proptosis and an improvement in his ptosis from a mass in the superior orbit. A biopsy showed the mass to consist of an inflammatory mass of the levator palpebrae superioris muscle. As the inflammatory mass responded to periorbital and systemic steroids, the ptosis recurred. Inflammatory pseudotumor of the levator muscle is extremely unusual and has not been reported previously in patients with chronic progressive external ophthalmoplegia.- - - - - - - - - - ranking = 2keywords = chronic progressive (Clic here for more details about this article) |
9/15. multiple sclerosis, euthyroid restrictive Grave's ophthalmopathy, and myasthenia gravis. A case report.A 53-year-old physician with a 13-year history of multiple sclerosis presented with the subacute onset of an atypical, restrictive, euthyroid Grave's ophthalmopathy. The hypotropia and monocular upgaze restriction responded to a course of systemic and local steroids. Three months later, the patient developed ocular and systemic features of myasthenia gravis. This is the second reported case of coincident multiple sclerosis, myasthenia gravis, and thyroid-related disease complex.- - - - - - - - - - ranking = 0.002050611807928keywords = sclerosis (Clic here for more details about this article) |
10/15. A modified silicone frontalis sling for the correction of blepharoptosis.We devised a frontalis sling by using two No. 40 silicone bands. Each free end was sutured to the tarsus and joined in the central brow area. We used pulley sutures in the medial and lateral brow incisions to prevent migration of the bands. With this method, adjustment of the eyelid level can be made anytime postoperatively through the central eyebrow incision because of the ease in finding the overlapped ends of the silicone bands. This is particularly useful for patients with chronic progressive ophthalmoplegia where poor closure and exposure keratopathy are potential postoperative problems.- - - - - - - - - - ranking = 1keywords = chronic progressive (Clic here for more details about this article) |
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