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)

Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. Abnormalities on neurologic examination included elevated creatine phosphokinase and aldolase, slowed distal sensory latencies, type II muscle fiber atrophy, and a plasma vitamin E level of 8 microgram per deciliter (normal, 550-1500 microgram per deciliter). Treatment with oral water-solubilized vitamin E (400 IU daily; greater than 50 times the normal daily intake) was begun, with repeat laboratory studies at 3-month intervals. Over a 16-month period, plasma vitamin E content gradually increased to 350 microgram per deciliter, associated with declining sarcoplasmic enzyme activities and clinical improvement.
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PMID:Reversibility of human myopathy caused by vitamin E deficiency. 57 10

Two young Arab women presented with a very rapid loss of vision, ophthalmoplegia, florid papilledema, areflexia of the lower limbs, and normal mentation. Lumbar puncture pressure was above 60 cm H2O, but no intracranial structural lesion was found in either patient. An exhaustive evaluation as to an etiology was negative in both. Under continuous lumbar cerebrospinal fluid drainage and administration of steroids, furosemide, and acetazolamide, both patients had significantly improved vision and ocular movement. In both, lumboperitoneal shunting was considered but only one eventually underwent this procedure. These two patients with pseudotumor cerebri are unique in their fulminant clinical course and severely increased intracranial pressure. Virtually inevitable blindness was prevented by timely intervention.
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PMID:Malignant pseudotumor cerebri. Report of two cases. 276 95

In 1949, amphetamine sulfate was replaced by propylhexedrine in the nasal decongestant agent Benzedrex because of psychosis, sudden death, and widespread abuse. Propylhexedrine is not without risks, and reported cases of psychosis, myocardial infarction, pulmonary vascular disease and pulmonary hypertension, and sudden death are well documented in the medical literature. We are reporting 2 cases of definite brainstem dysfunction and 5 cases of transient diplopia secondary to IV abuse of Benzedrex. This widely abused drug is prepared by heating Benzedrex and hydrochloric acid, and the resulting crystals are dissolved in water for injection. This agent is called "stove-top speed". All 7 patients had transient diplopia, within seconds after injection. One patient had evidence of a right-internuclear ophthalmoplegia, and another had a depressed right gag reflex and paralysis of the right half of the tongue. The deficits in these two patients, persisted for many months. In young adults with history of drug abuse, the IV use of Benzedrex should be considered in the differential diagnosis of transient or permanent focal brainstem deficits.
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PMID:Intravenous abuse of propylhexedrine (Benzedrex) and the risk of brainstem dysfunction in young adults. 287 25

Gaze palsies following severe destruction or irritative lesions of the cerebral hemispheres are rare. This report describes a patient with supranuclear ophthalmoplegia secondary to stroke which was rapidly resolved by cold caloric vestibular stimulation. The patient had a severe infarction of the right cerebral hemisphere and had a fixed deviated gaze to the right 3 months after onset. Cold caloric vestibular stimulation was used in an attempt to evaluate brain stem integrity. Following three successive injections of cold water at OC-5C into the external auditory canal, the patient regained full voluntary extraocular eye movements. The improvement continued for more than 12 months after the last treatment. A literature review of the neuroanatomy and neurophysiology of voluntary and reflex ocular movements is presented. A possible explanation for the improvement in this case is that vestibular input inhibits the tonic phase of antagonistic extraocular muscles while facilitating agonistic extraocular muscles.
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PMID:Vestibular stimulation for supranuclear gaze palsy: case report. 683 Apr 24

Two rare cases of Wernicke's encephalopathy (WE) in non-alcoholic patients on hemodialysis (HD) are reported. They presented with the clinical triad of WE (ophthalmoplegia, ataxia and disturbance of consciousness) and intravenous administration of thiamine led to complete elimination of these manifestations. Reduced plasma thiamine levels prior to the administration confirmed the diagnosis of WE. Interestingly, a reduction in plasma thiamine levels by about half was seen in one of the patients on HD, suggesting that thiamine, a water-soluble vitamin, can be depleted with HD. In the literature, nine HD-dependent patients have been reported to develop WE, seven of whom were diagnosed postmortem. Their premortem diagnoses included uremic encephalopathy, dysequilibrium syndrome and dialysis dementia, which can often complicate HD and present symptoms similar to those of WE. We therefore emphasize that WE, even though a rare complication, should be suspected in all patients on HD who present with at least one of the clinical triad of WE.
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PMID:Wernicke's encephalopathy associated with hemodialysis: report of two cases and review of the literature. 1046 8

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a maternally inherited disease due to mitochondrial DNA (mtDNA) point mutations. The clinical phenotype varies in relation to the systems affected, age at onset and disease severity. The characteristic signs of MELAS are nausea and vomiting due to acidosis, headache, epilepsy, ataxia or generalized weakness, ophthalmoplegia, motor and sensory focal neurological deficits. The clinical course may improve due to partial regression of the typical lesions, but the prognosis is usually adverse. A 19-year-old man with a diagnosis of benign occipital epilepsy and resumption of seizure activity with focal occipital attacks since the age of 14 years came to our attention for the recent onset of drug-resistant electroclinical seizures of long duration with complex symptoms, where the dominant clinical feature was an intense, persistent bilateral periorbital migraine with nausea and vomiting, scintillation scotomata and blurring of vision. MR studies were performed at our institution in the immediate post-seizure phase and then at one week, three and six months. The acute-phase morphological scans showed a right cortical-subcortical area with altered signal in the occipitopolar region that was hypointense on T1 and hyperintense on T2 and FLAIR, with cortical thickening and effacement of the sulci. Contrast-enhanced scans did not demonstrate BBB alterations. The DWI scans showed a right temporo-occipital cortical area with higher signal intensity. In the subsequent examinations the area with altered signal shrank gradually and significantly in parallel with improvement in clinical conditions. The diagnostic hypothesis of benign occipital epilepsy was consistent neither with the clinical course, characterized by persistent headache, visual disturbance and refractoriness to antiepileptic drugs, nor with the temporal-occipital cortical MR findings, which resembled ischemic lesions but displayed a non-territorial pattern as well as reversibility over time. These elements guided in the diagnosis of MELAS, which was subsequently confirmed by identification of the typical gene mutation. On DWI the stroke-like lesions of MELAS are seen more frequently as focal hyperintense areas compared with healthy parenchyma. Such high signal intensity likely corresponds to T2 shine-through rather than cytotoxic edema. Indeed, several studies have demonstrated that in acute-phase scans of MELAS stroke-like lesions DWI hyperintensity is associated with increased ADC values that are not associated with restricted water diffusivity, reflecting the metabolic rather than anoxic-ischemic nature of these changes. In the present case, morphological MR associated with DWI was very helpful in guiding the diagnosis by demonstrating some pathognomonic features of MELAS stroke-like lesions such as cortical-subcortical involvement of the posterior hemispheres, the non-territorial pattern, lesion reversibility and the pathophysiological role of vasogenic edema in inducing an increase in extracellular water and thus in diffusion values.
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PMID:Atypical Clinical Picture in a Patient with Benign Occipital Epilepsy: Diagnostic Contribution of Morpho-Functional MR. A Case Report. 2429 88

A 6-year-old girl experienced nausea and vomiting for 3 weeks and double vision for 1 week prior to her first visit to our hospital. She had bilateral ophthalmoplegia from sixth cranial nerve palsy and papilledema. Her brain MRI showed normal brain parenchyma. The lumbar cerebrospinal fluid (CSF) opening pressure was 1000 mm of water measured with normal CSF contents. From these findings, she was diagnosed with idiopathic intracranial hypertension (IIH). Initial lumbar puncture (LP) immediately improved her symptoms, but acetazolamide, a first line drug for the treatment of IIH, failed to maintain the remission, and three more periodical LP were required to relieve her symptoms every 2 weeks. After the fourth LP, acetazolamide was switched to a second line drug for IIH, topiramate, which was found to be highly effective in controlling IIH in a short time period. The long process of IIH causes vision loss, therefore, its prompt treatment is vital. In cases refractory to medical treatment, surgical treatments such as CSF shunt are considered. Acetazolamide is used in most IIH cases after the initial diagnosis, but in this case, it was ineffective, and topiramate was highly effective. Both acetazolamide and topiramate are inhibitors of carbonic anhydrase isoforms involved in CSF secretion. Inhibition of choroid plexus carbonic anhydrase by these drugs leads to decreased CSF secretion and the consequent control of intracranial pressure. Higher isoform specificity and increased lipophilic nature of topiramate, which are advantageous for passing through the blood brain barrier, may be the reasons for better activity than acetazolamide, at least in the present case. Topiramate might be effective and should be considered for refractory IIH cases before surgical treatments.
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PMID:[Successful treatment with topiramate in a case of idiopathic intracranial hypertension refractory to acetazolamide]. 3011 99