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 case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with corneal endothelial abnormality is reported. A 22-year-old woman had retinitis pigmentosa, external ophthalmoplegia, complete heart block, ataxia, muscle weakness, dementia, sensorineural hearing loss, and was of short stature. Renal dysfunction, diabetes mellitus, and amenorrhea were also observed. Biopsy revealed decreased cytochrome c oxidase (complex IV) activity in muscle mitochondria. The corneal endothelium examined by specular microscope showed decreased cell density, severe polymegathism, and pleomorphism in both eyes. To our knowledge, this is the first report concerning primary corneal endothelial abnormality in a case with mitochondrial encephalomyopathy. The corneal endothelium is one of the tissues that could be affected by the enzyme deficiency present in this disease.
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PMID:Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). 274 82

Pituitary abscess is a rare entity and the correct diagnosis is still difficult before surgery. More than 210 cases have been reported in the medical literature, mostly in the form of isolated case reports. We report two cases of pituitary abscess treated endoscopically and we review the literature. A 30-year-old woman and a 35-year-old man were admitted with a history of pituitary dysfunction. Patient 1 presented with polyuria, polydipsia, amenorrhea, headache, and visual impairment. Magnetic resonance imaging showed a cystic intra- and supra-sellar lesion with ring enhancement after contrast injection. Patient 2 presented with frontal headache, proptosis, painful ophthalmoplegia, visual impairment, and fever. Eight years before the patient had undergone a transphenoidal surgery for Prolactinoma. Magnetic resonance imaging revealed a sellar lesion extending into the cavernous sinus and carotid artery bilaterally. Both patients underwent endoscopic transnasal-transsphenoidal exploration. Intraoperative diagnosis of pituitary abscess was made. The postoperative courses were uneventful. Antibiotic therapy was performed in both cases. Only three cases of endoscopic treatment of pituitary abscess have been reported in the literature. We recommend early management by endoscopic transphenoidal surgery for pituitary abscess: this technique is safe, with minimal blood loss, short operating time, low morbidity, and brief hospital stay.
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PMID:Endoscopic treatment of pituitary abscess: two case reports and literature review. 1789 32

Sarcoidosis is a chronic disease of unknown aetiology. Neurosarcoidosis is registered in 5% of patients with sarcoidosis. Clinical manifestations of sarcoidosis are numerous and diverse. Manifestation of Neurosarcoidosis includes partial- and grand-mal seizures, low-grade fever, headache, increased intracranial pressure, visual disturbances, diabetes insipidus, amenorrhea- galacterorrhea syndrome and pituitary failure, hypogonadotropic hypogonadism, hyperprolactinemia, unilateral and bilateral facial palsy, infiltration of meninges (aseptic meningitis) and nerve roots, leptominingitis, pachymeningitis with cranial neuropathies, pseudotumor, mild cognitive disorder, psychosis, delirium, dementia, disorientation, amnesia, progressive visual deterioration and proptosis, axonal polyneuropathies, mononeuropathies, chronic polyradiculoneuritis, peripheral neuropathy, cranial nerve abnormalities, radiculopathies, peripheral neuropathy, mononeuritis multiplex, progressive numbness and deep sensation disturbance in bilateral lower extremities, hemiplegia, hyperreflexia with pathological reflexes and hypesthesia, upward gaze palsy, spinal cord compression, dysarthria, dysphagia, weakness, episodes of blurred vision, diplopia, intracerebral hemorrhage, neuro-ophthalmic manifestations, intranuclear ophthalmoplegia, dysorientation, vasculitis presenting with strokes, intracranial hypothalamic lesion, paresthesis, hemiparesis, myelopathy in the cervico-thoracic region, lumbar pain, sensory level and inability of lateral gaze (Tab. 2, Ref. 60).
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PMID:Clinical manifestations of neurosarcoidosis. 1982 43