Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old boy presented with uniocular proptosis and ophthalmoplegia. Investigation revealed a mass involving the right orbit with extension into the left orbit and paranasal sinuses, and intracranial extension involving both frontal lobes. Biopsy of an enlarged cervical node and the intranasal mass revealed esthesioneuroblastoma. This tumor has been reported rarely in a child this age, and only 12 case reports document patients under 10 years of age. The presentation as an orbital mass is previously unreported and must now be considered in the differential diagnosis of proptosis in childhood. The usual clinical, radiological, and pathological features of olfactory esthesioneuroblastoma are reviewed.
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PMID:Esthesioneuroblastoma presenting as an orbital mass in a young child. 810 59

Pituitary apoplexy (PA) is a rare but potentially life-threatening event. Typically, it results from hemorrhage into a pituitary adenoma, although cases affecting the intact gland have been reported. PA may occur spontaneously or in a setting of certain diagnostic and therapeutic procedures. The association of PA and contrast administration in the setting of neuroimaging have been postulated. The authors report a case of PA following coronary angiography. To the best of the authors' knowledge, this scenario has not been previously reported. A 66-year-old woman with a congenital septal defect underwent coronary angiography that was technically uncomplicated. After the procedure, the patient experienced retro-orbital pain and developed ophthalmoplegia. Magnetic resonance imaging (MRI) showed a hemorrhagic sellar mass extending into the cavernous sinus. A 3-month follow-up MRI revealed cystic changes. The patient expired 4 months later because of cardiorespiratory failure. PA in the absence of adenoma was confirmed on autopsy. The authors hypothesize that apoplexy here was related to the administration of Omnipaque in combination with the anticoagulation effect of heparin.
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PMID:Pituitary apoplexy in the setting of coronary angiography. 1288 78

A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory chain enzymes except complex II. Muscle histochemistry revealed diffuse cytochrome c oxidase deficiency. Southern blot analysis of mitochondrial DNA from muscle, liver, and blood showed a heteroplasmic single mitochindrial DNA deletion of 2.4 kb, which removed the genes for cytochrome c oxidase I and II and the transfer ribonucleic acid genes for serine and aspartic acid. Single large-scale deletions in mitochondrial DNA have been associated with Pearson's syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. This patient's presentation is unusual and suggests an overlap between Pearson's syndrome and Kearns-Sayre syndrome.
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PMID:Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy. 1516 90