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

A 21 year old patient was operated for bilateral ptosis and external ophthalmoplegia at 13 years of age. At this time there were no signs of retinitis pigmentosa or atrioventricular block, features of the Kearns and Sayre Syndrome (1958) which were detected five years later. His bundle recording showed an intrahisian block (1 degree proximal and a complete distal block) with a trifascicular block, the latter persisting alone during a brief return to sinus rhythm. This is one of the rare cases of the Kearns and Sayre Syndrome with documented His bundle recordings and the only reported case with intrahisian block. The patient also suffered from bilateral neural deafness. The patient's condition remains stable after implantation of an isotopic cardiac pacemaker and he now leads a normal life. A review of 52 previously published cases shows that this rare condition appears to be caused by a mitochondrial abnormality, which, for an unknown reason, affects only the neuromuscular and cardiac conduction systems. The prognosis is poor when swallowing and respiration are affected, but this does not occur in all cases. As cardiac conduction abnormalities are the other life-threatening complication, cardiac pacing has greatly improved the prognosis of these patients.
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PMID:[Auriculo-ventricular block in the Kearns-Sayre syndrome. Apropos of a case]. 640 30

The author reports the case of a 47-year-old man who developed an acute polyneuritis in the course of the chronic Chagas' disease. Neurological examination on admission forty-five days after onset showed total ptosis of the left eyelid without internal and external ophthalmoplegia. There was moderate diffuse weakness in the limbs. Tendon reflexes were depressed. Plantar responses were normal. The cerebrospinal fluid cell count and protein level were raised. The relationship between chronic Chagas' disease and peripheral polyneuritis is discussed.
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PMID:[Acute atypical polyneuropathy in chronic Chagas' disease: report of a case]. 642 85

Of 27 patients with ptosis and ophthalmoplegia or both, and abnormal mitochondria in proximal limb muscles, 13 were elderly females, in whom symptoms began late in life. Clinical, electrophysiological, and morphological findings are presented, and possible etiological factors are discussed. The ocular mitochondriopathy in post-menopausal females seems to represent a separate, previously not described syndrome.
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PMID:Mitochondrial myopathy as a cause of ptosis and ophthalmoplegia in elderly females. 646 89

We describe a patient with an isolated mesencephalic dorsal tegmental infarct affecting the oculomotor nuclear complex and medial longitudinal fasciculus, documented by high-resolution computed tomography, after undergoing percutaneous transluminal coronary artery angioplasty. Clinically, the patient exhibited bilateral ptosis, bilateral internuclear ophthalmoplegia, transient convergence retractory nystagmus, and minimal somnolence. We believe the combined clinical and radiological findings favor the presence of a caudal, dorsal, and paramedian embolic infarct in the territory of the paramedian branches of the mesencephalic artery as the most likely mechanism for these exceptional findings and correlate them with Warwick's scheme of the oculomotor subnuclei.
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PMID:Oculomotor nuclear complex infarction. Clinical and radiological correlation. 647 33

A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and "ragged-red fibers." On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood.
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PMID:Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome. 648 80

Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.
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PMID:Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. 649 99

A clinical study of 50 Southern Chinese myasthenic children observed for periods of two to 18 years (six years on average) revealed manifestations different from those of caucasian patients. Onset was early, at an average of 4.8 years. 82 per cent had ocular myasthenia. Ophthalmoplegia followed ptosis between three months and 10 years later. Additional facial and isolated limb-muscle fatigability developed in only 6 per cent within three months to 3 1/2 years. Only 12 per cent developed generalized myasthenia. Although extension from ocular to the generalized form did not occur later than 20 months after onset, a deterioration in ocular symptoms, without extension into generalized myasthenia, occurred in nine of 18 children during adolescence. Ptosis and generalized myasthenia responded better to anticholinesterase and/or prednisone. Ophthalmoplegia was difficult to treat. The natural clinical course was benign. Spontaneous remission occurred in 62 per cent of cases, but 54.8 per cent of these relapsed, all confined to ocular muscles. Although there was no familial occurrence of myasthenia gravis, an association was found between myasthenia and thyroid disorders in some patients and their relatives. The association with HLA BW46 antigen was striking. Acetylcholine receptor antibodies were absent in the majority, but mildly elevated titres were found in three of five patients whose ocular symptoms deteriorated during adolescence, without extension into generalized myasthenia.
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PMID:Myasthenia gravis in Chinese children. 651 56

Two cases of myasthenic pseudointernuclear ophthalmoplegia are reported. The diagnosis of this rare peripheral oculomotor syndrome is established on the variability of the clinical signs, their improvement by pharmacological testing, the combined impairment of convergence, the usual association of ptosis, and in some cases the presence of specific electromyographic signs. The nystagmus of the abducting eye could result from a selective damage to the tonic muscle fibres mediating fixation, the phasic fibres (performing saccades) being spared.
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PMID:[Myasthenic internuclear pseudo-ophthalmoplegia]. 664 6

The surgical procedure using frontalis muscle and autogenous fascia lata suspension (Beard, Crawford) gives good results in the correction of severe blepharoptosis. Personal experience of 34 operations (23 patients) is reported. The level of the palpebral margin remains stable and there is no long-term undercorrection. The autogenous fascia lata is, in our experience, better than the other sling procedures. There is good tissular adhesion and less necrosis. The disadvantages are the constant lid lag in downward gaze and the scar on the thigh. The lagophthalmos is well tolerated and needs neither drops nor ointments 3 months post-operatively. Complications were infection (1 case) and corneal ulceration in a patient with traumatic ptosis and complete ophthalmoplegia. The sling must be deep and must support the suspensor ligament of Whitnall without perforating the conjunctiva. This step requires the use of a Reverdin needle, and is controlled by a finger applied in the superior fornix.
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PMID:[Treatment of severe ptosis by suspension of the upper eyelid using the autogenic frontal muscle and fascia lata. Analysis of 34 interventions]. 667 55

A new visceral myopathy family was identified. The disease in this family is transmitted by an autosomal recessive gene. Only 3 patients were identified from approximately 1500 family members. All 3 patients are the products of intermarriage. The patients had gastric atony, dilatation of the entire small bowel, and multiple diverticula throughout. Pathology of the jejunum showed fibrosis and degeneration, mainly of the longitudinal muscle layer, indistinguishable from that of previously reported families. Two of the patients also had ptosis and external ophthalmoplegia. Jejunal manometric studies were performed on the proband's asymptomatic mother and five siblings. All had normal esophageal manometric studies and upper gastrointestinal x-rays. The mother and three siblings had abnormal jejunal manometric studies characterized by the absence of phase 1 in some of the migrating motor complexes and increased motility indices in phase 2. We conclude that familial visceral myopathy can be transmitted by an autosomal recessive gene, and that jejunal manometry is a sensitive technique to identify asymptomatic heterozygotes.
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PMID:A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. 668 59


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