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)

The authors give a very complete description of the Kearns and Sayre syndrome : external ophthalmoplegia, pigmentary retinitis, cardiac conduction disorders, cerebellar syndrome, hypacusis, reduced height, raised CSF protein levels, mitochondrial anomalies in muscle, skin, and conjunctivae, and low density zones on scanning. They emphasize the not-infrequent association of endocrine anomalies : hypoparathyroidism, which may be the first manifestation of the disease, and diabetes. The etiology of this syndrome, which occurs sporadically and starts in infancy, is still unknown.
Sem Hop
PMID:[Kearns and Sayre syndrome with hypoparathyroidism and diabetes (author's transl)]. 625 52

Painful ophthalmoplegia occurred in a twelve-year-old boy, with repeated attacks over five years. This fits the description of Tolosa-Hunt syndrome which has only infrequently been described in children. Tolosa-Hunt syndrome combines severe lasting orbital pain and paralysis of one or more oculomotor nerves (extrinsic or intrinsic III, IV, VI). Pain is dramatically alleviated by high doses of corticosteroids, while the ophthalmoplegia improves more slowly. For some authors, this effect of corticosteroids is diagnostic. Repeated attacks occur over several years and resolve spontaneously with or without sequellae. Diagnosis can only be ascertained after careful ruling out of a general or locoregional etiology through clinical and paraclinical investigations. Differential diagnosis with ophthalmoplegic migraine may be difficult.
Sem Hop 1983 Jun 09
PMID:[Painful Tolosa-Hunt ophthalmoplegia. Apropos of a case in a child]. 630 8