Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 59 year-old female with hypercereatinekinasemia associated with pituitary apoplexy was presented. The patient showed headache, nausea, vomiting and pyrexia. On admission, slight nuchal rigidity and photophobia were observed. However all the cranial nerves were intact; neither ophthalmoplegia nor visual defect were observed. Cerebrospinal fluid analysis revealed an elevated protein concentration of 164 mg/dl. There were 157 cells/mm2 (30% neutrophils). Skull X-P disclosed the ballooning of the sella turcica. CT scan, endocrinological examination and angiography lead us to the diagnosis of pituitary apoplexy. By the sphenoidal approach necrotic tissue with a little chromophobe adenoma were removed. No haematoma was detected. The isozyme pattern of serum CK showed 100 percent MM type. Serum CK concentration reached as high as 2502 IU/l on the fifth day from the onset of the symptom and then normalized in 12 days. Though the cause of the hypercreatinekinasemia uncertain, the similar pattern of hypercreatinekinasemia is known in the acute stage of cerebrovascular accident, and it is more often observed in thalamic hemorrhage. We assumed that the hypercreatinekinasemia in our case was caused by hypothalamic irritation, which lead hyperpermeability of sarcolemma and leakage of the enzymes of muscle origin.
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PMID:[Pituitary apoplexy with hypercreatinekinasemia]. 235 Sep 34

A 57-year-old woman developed pain behind and above her left eye. She had a partial oculomotor nerve paresis manifest by slight blepharoptosis and a dilated pupil. Both anterior chamber angles were narrow but the left was partially occluded. There was no photophobia or corneal edema. Though the moderately increased intraocular pressure was controlled by medication, pain persisted and the oculomotor nerve palsy became complete 12 hours later. Cerebral angiography was done. She had an aneurysm of the left posterior communicating artery. The aneurysm was treated by neurosurgical techniques and the oculomotor paralysis resolved within a few months except for misdirection in regeneration.
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PMID:Acute angle-closure glaucoma secondary to an aneurysm of the posterior communicating artery. 738 66

An 11-year-old girl manifested with photophobia, ptosis, external ophthalmoplegia, hypotonia, weakness of proximal limb muscles, hyporeflexia, and generalized seizures (six months). Her elder sister had had uncontrolled seizures and photophobia and died at seven years of age. In the patient, serum lactate was high (55 mg/dl). Muscle biopsy revealed characteristic ragged red and ragged blue fibers, diagnostic of mitochondrial cytopathy. Sequencing of the complete mitochondrial genome of the DNA obtained from the muscle biopsy of the patient did not show any characteristic mutation. Four months later, the girl was admitted with a one-week history of epilepsia partialis continua (EPC). EEG revealed Periodic Lateralized Epileptiform Discharges (PLEDs), once in 2-4 seconds, over the right temporo-occipital leads. MRI revealed signal change of right motor cortex, which had restricted diffusion. MR spectroscopy (MRS) from this region revealed lactate peak. EPC remained refractory to multiple anti-epileptic drugs, immuno-modulators, coenzyme-Q, and carnitine. This thought provoking report expands the spectrum of mitochondrial cytopathies.
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PMID:Epilepsia partialis continua in mitochondrial dysfunction: Interesting phenotypic and MRI observations. 1989 69

Herein, we report a case of nasal natural killer T-cell lymphoma (NKTL) with intraocular involvement. A 57-year-old woman was referred due to a three-day history of photophobia and diplopia in the left eye. One-month previously, she was diagnosed with nasal NKTL of the right nasal cavity. Ophthalmic examination revealed conjunctival injection and ptosis. The left pupil was fully dilated and non-reactive to light. Ocular motion was restricted on left-upper gaze. Five days later, anterior uveitis developed and persisted despite topical steroid treatment. An orbital magnetic resonance imaging was without specific findings, however, ophthalmoplegia, vitreous opacity, and an iris mass were observed. A diagnostic anterior chamber aspiration was performed. Aqueous humor aspiration revealed 35% morphologically atypical lymphocytes. After an intravitreal triamcinolone injection, radiotherapy and chemotherapy were administered; this resolved the uveitis and iris mass. When refractory uveitis or orbital pseudotumor occurs in patients with nasal NKTL, ocular and orbital involvement of the NKTL should be considered.
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PMID:Intraocular involvement of a nasal natural killer T-cell lymphoma: a case report. 2232 87

Tolosa-Hunt syndrome (THS) is a rare disorder, especially in the pediatric population, characterized by unilateral painful ophthalmoplegia with a relapsing-remitting course. Because the diagnosis of THS is based on the exclusion of other causes of painful ophthalmoplegia, attention should be paid to possible alternative diagnoses. Thallium-201 chloride ((201)Tl) scintigraphy has been used to evaluate tissue histology in clinical oncology with a marker, the retention index (RI). A higher value indicates histological malignancy. Although its utility in pediatric THS has not been discussed, we suggest that (201)Tl scintigraphy may be informative as a marker in the diagnosis. We present an 11-year-old boy with THS who was evaluated with (201)Tl scintigraphy before treatment with corticosteroids, when he had headache, photophobia, and diplopia. The RI of (201)Tl indicated that the lesion would be benign. Although his clinical symptoms did not fulfill the THS criteria completely, his eye symptoms disappeared 2 weeks after corticosteroid treatment, which was not within the 72 h as in the diagnostic criteria of THS. He has been symptom-free for more than 2 years with only an initial 4-week corticosteroid therapy. This report not only shows the potential of (201)Tl scintigraphy to contribute to the correct diagnosis of pediatric THS but also suggests the possibility that the diagnosis of THS could be supported uniquely even in a pediatric THS-suspicious patient who did not fulfill the current THS criteria completely. In conclusion, we suggest that (201)Tl scintigraphy may be useful for making the diagnosis of THS, especially in pediatric patients.
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PMID:Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome. 2329 11

We report a recent case of common adder (Vipera berus) envenoming causing paralytic signs and symptoms. A 12-year-old girl was bitten by the nominate subspecies of the common adder (V. berus berus) in eastern Hungary on May 2, 2012, 22 km away from where the first neurotoxic V. berus berus envenoming was reported in 2008. The patient developed unambiguous cranial nerve disturbances, manifested in bilateral impairment characterized by oculomotor paralysis with partial ptosis, gaze paresis, and diplopia. Drowsiness and photophobia were her additional symptoms; both occurred only during the first day of envenoming. Until now among viper envenomings in Europe, photophobia has only been documented by victims of Vipera aspis. Supportive and symptomatic treatments were administered during 3 days of hospitalization. Although case reports of V. berus berus envenomings are often published, clinical experience with neurotoxicity by this subspecies still remains rare. Population-based and geographic variation of venom composition in V. berus berus seems to include neurotoxic envenomings in certain populations. This second authenticated case provides new clinical evidence for the existence of a possible neurotoxic V. berus berus population in a restricted geographical area in eastern Hungary.
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PMID:Further clinical evidence for the existence of neurotoxicity in a population of the European adder (Vipera berus berus) in eastern Hungary: second authenticated case. 2407 91

Although visual function is thought to be preserved in patients with locked-in syndrome (LIS), enabling them to communicate through vertical or lateral eye movements or blinking of the upper eyelid, nothing is known about the actual visual function of patients with LIS. The goal of this study is to evaluate the visual function of patients with LIS which may enable better evaluation of the state of consciousness of these patients. Patients with LIS seen in a single neurovascular unit of a tertiary center between 1997 and 2013 were retrospectively reviewed. Each patient had a specialized neuro-ophthalmological evaluation under optimal environmental conditions (light, contrast, examination distance, head position, best ergonomic adaptation, and establishment of a means of communication with help from the patient's friends/family). Visual acuity, extraocular eye movements, confrontational visual field, slit lamp and fundus examination were performed. Thirteen patients (6M/7F) were included in this study. Mean visual acuity was 20/60. Oculomotor examination was abnormal in 77%. Forty-six percent of patients presented binocular diplopia mainly related to a VIth nerve palsy. One patient presented complete ophthalmoplegia. Forty-six percent of patients had nystagmus responsible for oscillopsia (oculopalatal tremor). An abnormal visual field was observed in 17% of patients, and abnormal pupillary light response leading to photophobia was present in 22% of patients. Keratitis or dry eye syndrome was present in most patients and was a major cause of pain and visual impairment. Our results suggest that the visual function is impaired in all patients with LIS. This impairment is multifactorial including mostly binocular diplopia or oscillopsia but also refractive errors, dry eye syndrome, keratitis or visual field defect. This altered visual function may alter the ability of the patient to interact with his environment and lead to underestimation of their state of consciousness. An ophthalmologic evaluation would allow for improvement of these patients' comfort, their ability to communicate, and the assessment of their state of consciousness.
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PMID:Evaluation of the visual function of patients with locked-in syndrome: Report of 13 cases. 2715 1