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)

Two typical cases of the Kearns and Shy syndrome are reported. Some of the authors have previously published observations on simple ocular myopathy and oculo-pharyngeal dystrophy associated with abnormalities of the mitochrondria in skeletal muscle cells. This disease, which is still called "ophthalmoplegia plus", combines a progressive external ophthalmoplegia, muscular defects and varied neurological signs with other symptoms particularly retinal, endocrine and cardiac. Histo-enzymological and ultra-structural studied of a fragment of skeletal muscle confirm the presence of mitochondrial anomalies.
Arch Ophtalmol Rev Gen Ophtalmol
PMID:[Drachman's "ophthalmoplegia plus" or Kearns and Shy syndrome. Apropos of 2 cases with mitochondrial abnormality ultrastructurally demonstrated in the muscle]. 13 Aug 79

Progressive supranuclear palsy (PSP) is characterized by supranuclear ophthalmoplegia mainly affecting vertical gaze, nuchal dystonia in extension, pseudobulbar palsy, and mental changes. The literature on PSP has been neurologically oriented whereas the psychiatric aspects have been relatively neglected. A review of the literature shows that psychiatric disturbance in PSP is common but with no characteristic pattern. Cognitive impairment, nonspecific affective and behavioral disturbances are commonly found, whereas frank psychosis or bipolar disorder are rare. Misdiagnoses with psychiatric disorders are common and a heightened awareness of the condition is necessary for early diagnosis.
Gen Hosp Psychiatry 1995 Mar
PMID:Psychiatric aspects of progressive supranuclear palsy. 778 84

Clinically, we most often associate Wernicke's encephalopathy (WE) with an alcohol abusing population. However, it is important to consider other causes of malnutrition and vitamin deficiency as risk factors for the development of this disorder. We present a case of a 51-year-old man with schizophrenia and malnutrition who presented with delirium, ophthalmoplegia, and seizures. He responded rapidly to the administration of IV thiamine. Because of the high rate of mortality and morbidity, WE should be high on the differential of any patient at risk for malnutrition or with ophthalmoplegia, regardless of alcohol history. This is particularly important in psychiatric patients where the syndrome may be masked and thus treatment delayed.
J Gen Intern Med 2006 Dec
PMID:Wernicke's encephalopathy in a patient with schizophrenia. 1692 99

The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with localized herpes zoster is rarely reported and may be under-appreciated. We describe two diabetic men with herpes zoster ophthalmicus (HZO) who developed hyponatremia (114 and 116 mmol/L) during acute illness. Both were euvolemic and had elevated urine osmolality (435 and 368 mmol/kg.H(2)O) and sodium (Na(+)) concentration (61 and 63 mmol/L) along with normal cardiac, renal, liver, and endocrine function consistent with the diagnosis of SIADH. Thorough investigation for other causes of SIADH, including detailed physical examination, laboratory studies, and computed tomography of the brain, chest, and abdomen, were negative. Despite antiviral therapy (acyclovir) for herpes zoster, ophthalmoplegia, keratitis, and post-herpetic neuralgia (PHN) developed. Even with fluid restriction and high salt diet, SIADH lasted for 3 to 4 months and resolved concomitantly with resolution of PHN, suggesting an association between SIADH and HZO. These two cases raise the potential for herpes zoster infection, especially HZO, to involve the regulatory pathway of ADH secretion, contributing to SIADH. The presence of PHN, which reflects greater neural damage may, at least in part, explain the prolonged ADH secretion and hyponatremia.
J Gen Intern Med 2011 Feb
PMID:Syndrome of inappropriate secretion of antidiuretic hormone associated with localized herpes zoster ophthalmicus. 2087 95