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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients with ptosis, external ophthalmoplegia, and ragged-red fibers on muscle biopsy were found to have decreased ventilatory responses to hypoxia and hypercapnia. Respiratory muscle weakness was not responsible for these findings since these responses were normal in muscle disease control patients. An altered metabolic state also can cause diminished ventilatory response, but overall oxygen consumption data in the ragged-red fiber patients were normal. The decreased ventilatory responses may be clinically significant because two of the ragged-red fiber patients had episodes suspicious of hypoventilation with poor response to hypoxia.
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PMID:Depressed ventilatory response in oculocraniosomatic neuromuscular disease. 94 69

The authors reported five cases of eyelid ptosis with progesssive external ophthalmoplegia. They emphasize infra-clinic diffusion, fatigability and variability impairment of extra-ocular muscles; coexistence of myogenic E.M.G. and single potential recurring at high frequency in the same patient; mitochondrial abnormalities in type I fibers, intense oxydative activity in superior oblique muscle and normal motor end-plates.
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PMID:[Study of 5 cases of ocular myopathy]. 95 3

Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.
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PMID:Congenital myasthenia gravis: clinical and HLA studies in two brothers. 101 Oct 24

Large penetrating transorbital foreign bodies may initially appear to be of a devastating character to the ocular tissues. However, several reports of such large foreign bodies have proved to spare the eye. A case report of a large wooden foreign body with transorbital penetration into the right frontal lobe is reported. The globe remained intact and was only displaced, with a final visual acuity of 20/40. However, complete ophthalmoplegia and ptosis persisted. A low pressure hydrocephalus ensued following intracranial debridement.
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PMID:Penetrating transorbital foreign body with ocular preservation. 113 84

For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.
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PMID:[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 115 Feb 40

Six members of a family--the mother, three daughters, and two sons--have a unique syndrome consisting of congenital external ophthalmoplegia, bilateral facial weakness, lingua scrotalis, progressive chorioretinal sclerosis, and an intellectual deficit. Bilateral ptosis and almost complete ophthalmoplegia were found in three of the family members, bilateral facial weakness in two, and Parinaud's syndrome and convergence paresis in one. Electromyographically, a lesion of the lower motor neurons--"nuclear ophthalmoplegia"--was found. Three members of the family had different stages of progressive chorioretinal sclerosis and two had myopia. All the family members had lingua scrotalis, and all of those who had ophthalmoplegia had low IQs. Electroretinographic reactions were subnormal or absent in patients with chorioretinal degeneration. It was concluded that an extensive abiotrophic process, genetically conditioned, was a possibility.
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PMID:Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family. 116 9

A girl of 10-5/12 years is described, who had diabetes mellitus from the age of 5 years on and who developed bilateral ptosis, pigment degeneration of the retina and bilateral impairment of hearing at the age of nine years. A few weeks before death she suffered from an acute gastrointestinal infection which was successfully treated by a hydroxyquinoline derivative. In the days following a severe encephalopathy and signs of cardiac involvement appeared. A month later the girl died of bulbar paralysis and acute heart failure. Histology showed remnants of a granulomatous inflammation in the heart, the kidneys, the pancreas and the skeletal muscles. Furthermore there was a widespread spongiosis in the white substance of the brain, with large astrocytes, and partly also in the basal ganglia, the brain stem and the cerebellum. Foci of sudanophilic tissue necrosis resembling Wernicke's Encephalopathy were found in the medulla oblongata and the spinal cord. The peripheral nerves appeared partially demyelinated and showed axonal lesions. This case is classified as a Juvenile Type of so-called Canavan's Disease. It shows some resemblence to the "Progressive Chronic Ophthalmoplegia with Spongiform Encephalopathy described by Daroff, Kearn and Sayre. The possible neurotoxical effects of the hydroxyquinoline therapy are discussed.
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PMID:[Juvenile spongy dystrophy of CNS with necrosis of the medulla. A. complication of hydroxyquinoline therapy (author's transl)]. 124 13

In senile ptosis and late-acquired hereditary ptosis, the Fasanella-Servat procedure is dependable and successful. However, levator resection by the posterior approach is appropriate for the more severe problems. In senile ptosis, a search should be made for signs that might prompt disinsertion repair. The decision for surgery in patients with chronic progressive external ophthalmoplegia or myotonic dystrophy should be made cautiously, and the "optical tarsectomy" should be considerable before conservative levator resection or fascia lata suspension. The patient with myasthenia gravis should be identified, medical evaluation initiated, and except in rare instances, surgery avoided. The more unusual forms of myogenic ptosis should be treated surgically only when the ptosis persists and has stabilized.
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PMID:Management of myogenic (myopathic) ptosis. 124 46

Exophthalmos occurs in more than half of the patients with childhood Graves' disease, while severe Graves' ophthalmopathy is uncommon in children. Myasthenia gravis is even more rare in association with Graves' disease. A 7-year-old girl is reported; she had ptosis for two years; this was treated irregularly, and she then developed exophthalmos, ophthalmoplegia and thyroid goiter. Her laboratory tests showed T3 496 ng/dl, T4 17.05 ug/dl, TSH < 0.1 uU/ml, fT4 > 4.2 ng/dl. Antithyroglobulin antibody was 1:25600 and antimicrosomal antibody was 1:102400. Myasthenia gravis was confirmed by a positive neostigmine test. Due to allergic reaction to propylthiouracil, she was treated with carbimazole and propranolol. Thereafter the thyrotoxicosis was was well controlled. The ocular-type myasthenia gravis remained stable with minimum medical treatment.
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PMID:Graves' disease associated with myasthenia gravis: report of one case. 130 32

Twenty cases of severe progressive ophthalmoplegia (Myopathic ptosis) with significant ptosis were treated by various procedures, including levator resection with blepharoplasty or frontalis suspension using temporalis fascia. Surgical indications were generally limited to cases with poor or absent levator function. The results are analysed after an average follow-up of 6 months. The particular problems concerning surgery of myopathic ptosis are discussed.
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PMID:[Surgical treatment of myopathic ptosis. Apropos of 20 surgically treated cases]. 130 71


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