Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Of 185 patients with myopathy, 22 showed abnormal muscle mitochondria. In 12 of the 22 patients, all of whom had ocular myopathy or the ophthalmoplegia-plus syndrome, muscle biopsies contained 5%-25% "ragged red" fibers. In 4 patients with a facioscapulohumeral distribution of weakness, ragged red fibers were less numerous (3%-8%). In both groups, routine histology showed almost normal muscle. The remaining 6 patients were clinically heterogeneous, all without ptosis or ophthalmoplegia. The biopsies of three of these patients showed severely affected muscle. It is possible that mitochondrial changes in these muscles were nonspecific. Electromyography indicated or suggested a myogenic lesion in 21 of the 22 patients; in 10, the serum creatine kinase was increased.
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PMID:Myopathies with abnormal mitochondria: a clinicopathologic classification. 26 80

Seven patients with acquired ptosis were treated with a tuck in the aponeurosis of the levator palpebrae superioris muscle. Although the etiology for the ptosis was not always clear, associated conditions included progressive external ophthalmoplegia, prior ocular irradiation, prior ocular surgery and enucleation. One patient with progressive external ophthalmoplegia had good functional results. All of the other patients had good cosmetic, as well as good functional results. Since local infiltrative anesthesia was used, patients were able to cooperate during surgery by elevating and lowering their eyelids. The amount of tuck necessary to sufficiently elevate the eyelid could therefore be determined at surgery. The amount of lid elevation attained at surgery closely resembled the final postoperative result.
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PMID:Levator aponeurosis tuck: a treatment for ptosis. 26 96

A child with a myopathy that started in the pelvic girdle, non-obstructive cardiomyopathy and retinitis pigmentosa is described. There was a progressive neurological deterioration with external ophthalmoplegia and ptosis. The clinical course could be predicted from the appearance of the muscle biopsy.
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PMID:[Oculocraniosomatic neuromuscular disease]. 49 42

To our knowledge, the juvenile form of spongy degeneration of the CNS (SD-CNS); van Bogaert-Bertrand disease) has been described previously only three times. We report the case of 21 1/4-year-old Japanese woman who was first seen at the age of 11 with growth retardation, ptosis, and ophthalmoplegia. Her progressive neurodegenerative disease included retinitis pigmentosa, blindness, partial deafness, cerebellar dysfunction, hyporeflexia, and muscle wasting. Simultaneous endocrine defects were diabetes mellitus and probable hyperaldosteronism. Heart block developed later. She died of bronchopneumonia. Autopsy showed CNS stigmas typical of spongy degeneration. Additional findings included peripheral nerve demyelination, neurogenic muscle atrophy, pituitary and pancreatic atrophy, right adrenal agenesis, and a left adrenal coritcal lipid-cell adenoma. To our knowledge, our patient was the oldest survivor, the first patient of Japanese ancestry, and had a unique concurrence of certain oculoendocrine defects.
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PMID:Spongy degeneration of the CNS: an instance of the rare juvenile form. 50 59

Myasthenia gravis developed in two children at 2 and 3 years of age respectively. Minimal improvement followed chronic oral administration of cholinesterase inhibitors. Patient 1 had ptosis and ophthalmoplegia but no clinical or electromyographic involvement of muscles of the extremities, although a quadriceps muscle biopsy revealed lymphorrhages. Patient 2 had progressive generalized myasthenia for 3 1/2 years. Both children were given a 3-month course of prednisone followed by thymectomy. They both are in remission, 12 and 8 months after thymectomy, with only minimal residual ocular weakness, but this weakness is much more responsive to anticholinesterase drugs than before thymectomy. Long-term administration of steroids, with the attendant complication of growth retardation, is avoided.
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PMID:Effective treatment of infantile myasthenia gravis by combined prednisone and thymectomy. 55 63

The case of a 16-year-old boy with progressive external ophthalmoplegia ("Ophthalmoplegia plus") is reported. Clinical symptoms consisted of complete external ophthalmoplegia, ptosis, short stature, atrophy and weakness of skeletal muscles, and elevated csf protein. Abnormal mitochondria were found by electron microscopy in scattered atrophic fibres of the muscle biopsy. The syndrome and it's relevance for paediatric differential diagnosis is discussed.
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PMID:[Progressive External Ophthalmoplegia (authors transl)]. 56 96

The authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings--the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery--supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.
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PMID:Centronuclear myopathy: possible central nervous system origin. 75 9

A pharmacological study was performed in the involved pupils to demonstrate the site of lesion in a patient with Fisher's syndrome who showed marked ptosis, complete external ophthalmoplegia, pupillary involvement with anisocoria, facial paresis, ataxia, areflexia, and albuminocytological dissociation in the cerebrospinal fluid. The instillation of 2.5% methacholine produced mild constriction of one pupil. This response was not detectable in the recovery stage. The instillation of 1.25% l-epinephrine produced marked bilateral dilation of the pupils, in both the early and recovery stages. Instillation of 5% tyramine produced pupillary dilation as in the normal pupil. The response to 5% cocaine, tested only in the recovery stage, was weak in one pupil. These results imply that the pupillary involvement was due to peripheral involvement of the sympathetic and parasympathetic nervous systems. The lesion in the sympathetic nervous system was preganglionic, but in the parasympathetic nervous system the precise localization could not be determined.
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PMID:Fisher's syndrome: a pharmacological study of the pupils. 90 Sep 8

A 7-year-old girl developed bilateral ptosis, total ophthalmoplegia, and fixed, dilated pupils associated with bulbar paralysis and generalized weakness six days after she sustained a compound supracondylar fracture of the right humerus. Nerve conduction studies showed a facilitated muscle action potential after repetitive nerve stimulation. Blood cultures were negative. Although the wound site appeared noninfected, the wound was explored. Clostridium botulinum, type B, grew from cultures taken from the depths of the wound. The patient recovered fully with supportive care, and EEG abnormalities present during the acute phase of the illness disappeared.
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PMID:Ocular involvement in wound botulism. 91 Dec 50

A boy aged five and a girl aged one year suffering from myasthenia gravis are described. Both cases had respiratory complications and were treated erroneously until their ptosis was noticed and the diagnosis of myasthenia gravis confirmed. The etiology, types, symptomatology, and treatment of the diseases are described. Attention of the pediatric ophthalmologists is called to the fact that they should consider myasthenia gravis in the differential diagnosis of ptosis and external ophthalmoplegia.
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PMID:Childhood myasthenia gravis. 92 39


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