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

A 9-year-old boy presented with symptoms and signs of marked postganglionic cholinergic autonomic dysfunction manifested by bilateral internal ophthalmoplegia, impaired secretion of tears and saliva, lack of gastrointestinal motility, atony of the bladder, generalized absence of sweating, and hypertension. Clinical and pharmacological studies confirmed that the abnormalities were restricted mainly to the postganglionic cholinergic autonomic system and showed evidence of postdenervation supersensitivity to parasympathomimetic drugs. The patient was treated in the early phase of his illness by the administration of carbachol, and eventually he made a slow and partial spontaneous recovery. Histoimmunofluorescent studies on a skin biopsy specimen suggested an autoimmune origin for his disease, with IgG antibodies being produced against postganglionic cholinergic autonomic fibers.
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PMID:Postganglionic cholinergic dysautonomia. 36 43

A 20-year-old woman presented with bilateral ptosis, total ophthalmoplegia, cerebellar symptoms, and hyporeflexia, indicating Fisher's syndrome. She had been diagnosed with infectious mononucleosis 2 months previously. Increased Epstein-Barr virus (EBV) titer was noted, and the Epstein-Barr virus-associated nuclear antigen (EBNA) became positive during the clinical course. Apparent light-near dissociation of the pupils was noted and accommodation was intact. During pharmacological tests with topical application to the eye by sympathomimetic or parasympathomimetic drugs, the pupils showed no supersensitivity, indicating possible central disorder. Enhanced ptosis was noted in each eye and this condition was aggravated by manually lifting the eyelids. The recovery latency time of this enhanced ptosis was approximately 180 ms, indicating a central polysynaptic process to possibly be the cause. Although this condition is considered specifically associated with peripheral neural or muscle diseases, the present case would indicate a central disorder as a possible mechanism.
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PMID:Enhanced ptosis in Fisher's syndrome after Epstein-Barr virus infection. 216 1