Chronic Progressive External Ophthalmoplegia and Muscular Dystrophy

Lind, Ingemar; Frame, Göran

doi:10.1111/j.1755-3768.1963.tb03562.x

Cited by 23 publications

(1 citation statement)

References 40 publications

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“…This view was upheld until Sandifer (1946) and Kiloh & Nevin (1 95 I), using muscle biopsies, demonstrated degenerative changes in the extraocular muscles histologically compatible with a myopathy, and introduced the term ocular myopathy. This opinion was supported by Erdbrink (1957), Kearns & Sayre (1958), 'Thorson & Bell (1959), Davidson (1960), Lind & Prame (1963), Tarkkanen & Tommila (1965), Bastiaensen et al (1974). Daroff et al (1966) recorded a case of ophthalmoplegia, retinopathy, and heart block in which muscle biopsy suggested an ocular myopathy, but raised CSF protein and abnormal EEG pointed to a neurogenic cause.…”

Section: Discussionmentioning

confidence: 87%

Chronic Progressive External Ophthalmoplegia, Pigmentary Retinopathy, and Heart Block (Kearns‐sayre Syndrome)

Lowes

1975

Acta Ophthalmologica

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Chronic progressive external ophthalmoplegia associated with a pigmentary retinopathy and heart block was described by Kearns & Sayre in 1958. They suggested that the triad represented a syndrome. The cases recorded since then are reviewed and summarised, and several common features are noted. Little attention has previously been paid to the retinopathy. A similar case is presented, and the pigment changes, retinal function, annd fluorescein angiography are examined. There is no clinical evidence for the diagnosis of classical retinitis pigmentosa. The prognosis and aetiology of the condition are discussed.

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Section: Discussionmentioning

confidence: 87%

Chronic Progressive External Ophthalmoplegia, Pigmentary Retinopathy, and Heart Block (Kearns‐sayre Syndrome)

Lowes

1975

Acta Ophthalmologica

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Myotubular Myopathy

Spiro¹

1966

Arch Neurol

343

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FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1 the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.Since this unusual pathological occurrence appears to be unique, it is the purpose of this report to present the clinical, pathological, cytochemical, and electron microscopic studies of this disease. An attempt will also be made to correlate these findings with previously reported studies in myogenesis. MethodsBiopsy specimens of gastrocnemius muscle were removed on two separate occasions (September 1962 and January 1965) after infiltration of the overlying skin with a local anesthetic. The initial specimen was removed with sutures and fixed in Zenker's solution; the second specimen was removed with a C-shaped clamp designed for that purpose, and fixed in Bouin's solution. Both specimens were oriented in a manner whereby both cross and longitudinal sections could be made. The fixed sections from the first biopsy were stained with hematoxylin and eosin. In addition to this, the sections from the second biopsy were stained with the hematoxylin-van Gieson, Gomori trichrome, periodic acid-Schiff (PAS) and Lillie allochrome techniques.2 During the second biopsy, a muscle specimen was frozen in isopentane cooled to \p=m-\160 C by liquid nitrogen. Thin sections cut in a cryostat were stained unfixed for histochemical and cytochemical studies. Sections were stained with the modified Gomori trichrome technique for morphological de¬ tail.3 Mitochondrial oxidative enzymatic activity and enzymes involved in electron transport were studied with the cytochrome oxidase,1 nicotinamide adenine nucleotide dehydrogenase (NADH),5 and succinic dehydrogenase (SDH) reactions." Myofibrillary activity was sudied using adenosine triphosphatase (ATPase).7 Individual sarcoplasmic contents were studied utilizing amylophosphorylase and the periodic acid-Schiff stain.Lipids were stained using scharlach-R and Sudan black. Sections were also stained for acid phosphatase.8 Immunofluorescence studies were done using rabbit anti-human myosin and fluorescein labelled anti-rabbit globulin.8 Electron Microscopy.-For electron microscopy, tissue immediately frozen at -160 C in liquid nitrogen and stored at -4 C for four weeks was thawed at room temperature and fixed in 1'% osmium tetroxide in barbital (Veronal) acetate buffer10 for two hours. Dehydration was carried on in ascending solutions of acetone, and English Araldite * was used for embedding. A microtome was used for sectioning of the blocks. The sections were examined in an electron microscope.A 12-year-old white boy was admitted to Chil¬ dren's Hospital of Philadelphia in January 1965 for evaluation of muscle weakness and repeat muscle biopsy. This was prompted by uniquely abnormal fibers found in routine review of the patient's muscle biopsy done in 1962.This boy (Fig 1) was the product of his then 30-year-old mother's fifth...

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Ophthalmoplegia Plus

Drachman¹

1968

Arch Neurol

232

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CONSIDERABLE interest has been focused on the entity of progressive external ophthalmoplegia (PEO) since the report of Kiloh and Nevin in 1951.1 These authors were primarily concerned with the pathogenesis of the ocular muscle weakness, concluding that it was virtually always the result of a myopathic process. They regarded PEO as a distinctive and relatively isolated disorder, although occasionally associated with mild myopathy elsewhere; they considered its association with other neurodegenerative findings to be "extremely rare," citing only the cases of Marburg2 and of Walsh.3 More recently, however, PEO has been linked with a variety of neurologic abnormalities in increasing numbers of reports. In addition to myopathic involvement of limb musculature, other neurologic symptoms including pharyngeal weakness, peripheral neuropathy, cerebellar ataxia, spasticity, deafness, optic atrophy, and dementia have been observed in conjunction with PEO. Other organ systems also involved have included the heart, endocrine glands, skin, bony skeleton, and eye.Based on the various combinations of clin¬ ical signs and laboratory findings, a number of "new syndromes" have been described in which PEO occurs as a constant or variable feature. New reports of older, well-known syndromes have also shown that PEO may occur in association with disorders long re¬ garded as cerebellar or neuropathic degener¬ ative conditions. Because of the overlap of clinical and laboratory findings among these conditions, the separation and classification of degenerative disorders in which PEO oc¬ curs has become deeply entangled; the con¬ ditions reported as new syndromes by one author are "variants" or "formes frustes" of a different syndrome to another author. Add¬ ing to the confusion has been an underlying concern for the purity of distinction between myopathie and neurodegenerative disorders.We have recently studied four unrelated patients in whom PEO occurred in combina¬ tion with extensive involvement of the nerv¬ ous system and other organs. Certain of the clinical and laboratory findings were closely similar; others differed. The concordant and discordant features provided an illuminating example of the difficulty of basing a system of nosology primarily on the semiology (symptoms and signs) of these degenerative conditions.The purpose of this report is to note the findings in these cases of "ophthalmoplegia plus"; to call attention to the range of ab¬ normalities that have been reported in asso¬ ciation with PEO; and, in light of these findings, to review and evaluate the classifi¬ cation of related degenerative disorders. Report of CasesCase 1.-History.-A 16-year-old girl was seen because of ocular motor weakness and un¬ steadiness of gait. She had been entirely well until age 8, when she was noted to have droop¬ ing of the eyelids and limitation of gaze in all directions. Within two years she developed difficulty in swallowing, faintness of the voice, and a hearing loss. In school she was consid¬ ered below average intellectually. At age...

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Chronic Progressive External Ophthalmoplegia and Muscular Dystrophy

Cited by 23 publications

References 40 publications

Chronic Progressive External Ophthalmoplegia, Pigmentary Retinopathy, and Heart Block (Kearns‐sayre Syndrome)

Chronic Progressive External Ophthalmoplegia, Pigmentary Retinopathy, and Heart Block (Kearns‐sayre Syndrome)

Myotubular Myopathy

Ophthalmoplegia Plus

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