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)

We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes mellitus and hearing loss we have sequenced all mitochondrial tRNA genes from two patients with the Wolfram syndrome, a rare congenital disease characterized by diabetes mellitus, deafness, diabetes insipidus and optic atrophy. In each patient, a single different mutation was identified. One is an A to G transition mutation at np 12,308 in tRNA(Leu(CUN)) gene in a region which is highly conserved between species during evolution. This mutation has been described by Lauber et al. (1) as associating with chronic progressive external ophthalmoplegia (CPEO). The other is a C to T transition mutation at np 15,904 in tRNA(Thr) gene. Both mutations are also present in the general population (frequency tRNA(Leu(CUN)) mutation 0.16, tRNA(Thr) mutation 0.015). These findings suggest that evolutionarily conserved regions in mitochondrial tRNA genes can exhibit a significant polymorphism in humans, and that the mutation at np 12,308 in the tRNA(Leu(CUN)) gene is unlikely to be associated with CPEO and Wolfram syndrome.
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PMID:Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. 154 64

From 1962 to 1987, 126 patients underwent trans-sphenoidal surgery for primary treatment of pituitary adenomas unassociated with clinical or biochemical evidence of hormonal overproduction. There were 73 male and 53 female patients (mean age, 50 +/- 12 years). Before surgery, 56% of the patients (70 of 124) had headaches, 74% (94 of 126) had deterioration of vision, and 12% (15 of 126) had ophthalmoplegia. Endocrine evaluation revealed the presence of hypogonadism in 75% (87 of 115), adrenal insufficiency in 36% (46 of 126), and hypothyroidism in 18% (21 of 122). Plasma prolactin was increased in 65% (56 of 86) with a mean level of 39 +/- 14 micrograms/l (normal, 3 to 20 micrograms/l). Radiologic enlargement of the sella turcica was documented in all cases: 67% (84 of 126) had enclosed and 33% (42 of 126) had invasive adenomas. After surgery, vision was normalized or improved in 75% (71 of 94) of the patients. Thyroid, adrenal, and gonadal functions were improved in 14% (three of 22), 41% (19 of 46), 11% (ten of 87), were unchanged in 82% (100 of 122), 77% (97 of 126), 89% (102 of 115), and worsened in 15% (19 of 22), 8% (ten of 126), 3% (102 of 115), respectively. Permanent diabetes insipidus occurred in 5% (seven of 126). Two patients died during the immediate postoperative period. The recurrence rate in patients with a mean follow-up of 6.4 +/- 4.2 years was 21% (15 of 71). These data indicate that trans-sphenoidal microsurgery is an effective and safe initial treatment for patients with nonsecreting pituitary adenoma and may reverse hypopituitarism.
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PMID:The clinical and endocrine outcome to trans-sphenoidal microsurgery of nonsecreting pituitary adenomas. 185 85

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
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PMID:Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. 185 94

Although metastatic tumors of the pituitary gland and the sellar region are not common, they may radiographically mimic a pituitary tumor. Because the metastasis frequently involves the posterior lobe and because lateral extension to the cavernous sinus is common, patients may present with ptosis, diplopia, or diabetes insipidus. Decrease in anterior pituitary function is less common. Metastatic tumors contain abundant vascular networks, as evidenced by frequent blush on cerebral angiography and increased bleeding at operation. We report the case of a 57-year-old woman who presented with rapid onset of bilateral ptosis and ophthalmoplegia and was found to have a metastatic carcinoma within the pituitary gland.
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PMID:Metastatic tumor of the pituitary gland. 343 67

We report here two cases in a family with pleomorphic clinical features which include mitochondrial myopathy, encephalopathy, stroke-like episodes, episodic disturbances of consciousness and other multisystemic abnormalities. The other signs observed in multisystemic abnormalities were ophthalmoplegia, short stature, diabetes mellitus, diabetes insipidus, renal dysfunction, optic atrophy, retinal degeneration, impairment of hearing and mental retardation or deterioration. A symptomatological variation was observed in cases in the same family. It is suggested that these widely varying symptoms may be expressions caused by a common biochemical defect which involves different tissues in different individuals in the family. The syndromes observed in the present cases were compared with other possibly-related mitochondrial encephalomyopathies.
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PMID:Familial mitochondrial encephalomyopathy with stroke-like episodes and episodic disturbances of consciousness: a study of pedigree including three generations with multisystemic abnormalities. 362 95

Three cases of acute necrosis of a hypophyseal adenoma are reported with a review of the medical literature. The clinical presentation as an acute parasellar compression syndrome was the result of aseptic meningitis in 2 cases and of cavernous sinus thrombosis in the other; the usual symptoms of headaches, oculomotor paralysis and impairment of consciousness were observed. The diagnosis was suspected on clinical grounds, by the radiological changes of the pituitary fossa and confirmed by computerised axial tomography. All three patients had a favourable outcome. Surgery was only required in one case with threatening visual complications. Dissociated anterior pituitary deficiency persisted in all cases; two patients also had diabetes insipidus. In one case, the pituitary necrosis stabilised an acromegaly for a two year period.
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PMID:[Acute parasellar compression syndrome disclosing hypophyseal adenoma. 3 cases]. 383 9

A 52-year-old woman was admitted to our hospital presenting with subarachnoid hemorrhage, left ophthalmoplegia, and right hemiparesis. Previous symptoms and signs suggested the presence of panhypopituitarism. A giant intracranial aneurysm of the internal carotid artery, diagnosed by magnetic resonance imaging, showed the characteristic flow void phenomenon with black appearance. Analysis of endocrine function disclosed panhypopituitarism and hyperprolactinemia. After proximal balloon occlusion of the aneurysm, diabetes insipidus developed. Pituitary function reassessed 6 months after initial admission confirmed anterior and posterior hypopituitarism and hyperprolactinemia. Possible mechanisms are discussed. A review of the literature on pituitary dysfunction caused by carotid artery aneurysms discloses that the pituitary-gonadal axis is the most frequently involved (67.5% of cases), followed by the pituitary-adrenal axis (48.6%) and the pituitary-thyroid axis (40.5%). These frequencies are very similar to those described in other types of hypopituitarism.
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PMID:Giant intrasellar aneurysm presenting with panhypopituitarism and subarachnoid hemorrhage: case report and literature review. 804 78

We report a case of painful ophthalmoplegia (Tolosa-Hunt syndrome), which was complicated with diabetes insipidus (DI) and pituitary-adrenal axis hypofunction. A 42-year-old man hospitalized for left orbital pain and impairment of left cranial nerves III, IV, V, VI, developed diabetes insipidus during the corticosteroid treatment. Neuroimaging studies disclosed a thickened, highly contrast-enhanced pituitary stalk, swollen pituitary gland and widened left cavernous sinus up to the superior orbital fissure, which were accompanied by diabetes insipidus and hypofunction of the pituitary-adrenal axis. These were indicative of an extension of granulomatous inflammation of the cavernous sinus to the pituitary portal system and the gland itself.
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PMID:Inflammatory involvement of the hypophysis in Tolosa-Hunt syndrome. 877 71

We describe a 60-year-old man with a history of Tolosa-Hunt syndrome associated with intermittent painful ophthalmoplegia and a visual disturbance on the left side, who presented with signs and symptoms of severe hypoadrenalism and diabetes insipidus. Magnetic resonance imaging demonstrated enlargement of the hypophysis and infundibulum and left cavernous sinus. An endocrinologic study revealed anterior pituitary dysfunction and diabetes insipidus. The patient underwent a transsphenoidal biopsy which revealed chronic inflammation in the hypophysis, mucosa of the sphenoid sinus, and dura mater. The patient was treated with steroids that decreased the size of the hypophysis and infundibulum, but the symptoms of anterior pituitary insufficiency and diabetes insipidus have persisted. The chronic inflammation of the hypophysis and infundibulum is thought to have spread from the cavernous sinus.
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PMID:Parasellar chronic inflammatory disease presenting Tolosa-Hunt syndrome, hypopituitarism and diabetes insipidus: a case report. 898 Aug 89

Only 1% of all pituitary surgeries are performed to treat tumors that have metastasized to the pituitary gland; however, in certain cases of malignant neoplasms pituitary metastases do occur. Breast and lung cancers are the most common diseases that metastasize to the pituitary. Breast cancer metastasizes to the pituitary especially frequently, with reported rates ranging between 6 and 8% of cases. Most pituitary metastases are asymptomatic, with only 7% reported to be symptomatic. Diabetes insipidus, anterior pituitary dysfunction, visual field defects, headache/pain, and ophthalmoplegia are the most commonly reported symptoms. Diabetes insipidus is especially common in this population, occurring in between 29 and 71% of patients who experience symptoms. Differentiation of pituitary metastasis from other pituitary tumors based on neuroimaging alone can be difficult, although certain features, such as thickening of the pituitary stalk, invasion of the cavernous sinus, and sclerosis of the surrounding sella turcica, can indicate metastasis to the pituitary gland. Overall, neurohypophysial involvement seems to be most prevalent, but breast metastases appear to have an affinity for the adenohypophysis. Differentiating metastasis to the pituitary gland from bone metastasis to the skull base, which invades the sella turcica, can also be difficult. In metastasis to the pituitary gland, surrounding sclerosis in the sella turcica is usually minimal compared with metastasis to the skull base. Treatment for these tumors is often multimodal and includes surgery, radiation therapy, and chemotherapy. Tumor invasiveness can make resection difficult. Although surgical series have not shown any significant survival benefits given by tumor resection, the patient's quality of life may be improved. Survival among these patients is poor with mean survival rates reported to range between 6 and 22 months.
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PMID:Metastases to the pituitary gland. 1519 37


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