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)

An unclassified type of ophthalmoplegia, composed of sixth-nerve paresis and Horner's syndrome without facial anhidrosis, was studied in an 18-year-old woman following cranial trauma. Carotid angiography disclosed a traumatic intracavernous carotid aneurysm. According to previous anatomical reports, an important sympathetic nerve joins the sixth cranial nerve in the posterior part of the cavernous sinus. An expansive process into the cavernous sinus at this point may cause this unclassified neurological syndrome. A review of the literature and a detailed clinical study were made.
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PMID:An unrecognized neurological syndrome: sixth-nerve palsy and Horner's syndrome due to traumatic intracavernous carotid aneurysm. 728 Sep 87

Mitochondrial DNA syndromes are an emerging class of diseases that can present at any age. Clinical findings are legion and may include renal tubulopathy, growth retardation, myopathy, seizures, and ophthalmoplegia. Mitochondrial DNA syndromes have presented with symmetric cervical lipomas, poikiloderma, and anhidrosis. We describe a child with a novel mitochondrial DNA syndrome who had poikiloderma on sun-exposed areas. We also reviewed 274 patients with mitochondrial DNA disorders for skin findings. Symmetric cervical lipomas were consistently associated with myoclonic epilepsy as part of 1 syndrome. With the exception of lipomas, skin findings were reported in 16 patients.
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PMID:Skin manifestations of mitochondrial DNA syndromes: case report and review. 981 Sep 6