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)

In children with painful ophthalmoplegia, the diagnosis of Tolosa-Hunt syndrome or of ophthalmoplegic migraine should only be considered when tumoral, infectious, inflammatory or vascular causes have been excluded by appropriate investigations. Both entities are classified as "neuralgia" by the International Headache Society, and seem to share a similar pathogenic mechanism. Both diseases have many clinical similarities with slight differences concerning pain characteristics or ocular associated symptoms. High resolution CT scan or contrast enhanced MRI can be necessary to exclude other causes of painful ophthalmoplegia. They can sometimes objectify an inflammatory process of the cavernous sinus in Tolosa-Hunt syndrome or a reversible enhancement and thickening of the cisternal segment of the oculomotor nerve during an ophthalmoplegic migraine. Pain and ophthalmoplegia quickly resolve with corticosteroids. Such treatment may decrease the risk of recurrence. It is important to follow-up these patients for a 2 years period and to repeat the etiologic assessment. We report here 2 cases of children with painful ophtalmoplegia.
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PMID:[Painful ophthalmoplegia in children: Tolosa-Hunt syndrome or ophthalmoplegic migraine?]. 1745 15

We describe a patient with ophthalmoplegic migraine and internal ophthalmoplegia with alternating unilateral involvement and bilateral involvement in whom brain MRI scan showed alternating gadolinium enhancement on the cisternal portion of the oculomotor nerve.
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PMID:Ophthalmoplegic migraine with alternating unilateral and bilateral internal ophthalmoplegia. 1750 57

Ophthalmoplegic migraine (also recognized as a cranial neuralgia) is a form of migraine characterized by recurrent episodes of headache with ophthalmoplegia related to paresis of cranial nerves III, IV, or VI, with onset typically in childhood. These symptomatic episodes may persist for several hours or for several weeks, months, or permanently. To date, the exact etiology of ophthalmoplegic migraine remains unknown. In previous case reports, ophthalmoplegic migraine may or may not be associated with changes seen on magnetic resonance imaging. Contrast-enhanced magnetic resonance imaging performed during symptomatic and postsymptomatic periods in patients with ophthalmoplegic migraine may hold great value in identifying the pathophysiologic features of oculomotor nerve palsies. Of cases demonstrating abnormal magnetic resonance imaging, a majority show improved but persistent changes on repeat imaging. The present report describes a case of recurrent ophthalmoplegic migraine in a 16-year-old girl. Although the patient presented with ophthalmoplegic migraine during this episode in the same manner as her prior episodes, enhancement of the cranial nerve III on magnetic resonance imaging was evident during the eighth episode whereas previous imaging had been normal. Complete resolution of enhancement of the oculomotor nerve on repeat imaging adds to the few cases that have shown such findings in patients with recurrent ophthalmoplegic migraine. A review of previous reported cases of ophthalmoplegic migraine is offered.
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PMID:MRI findings in pediatric ophthalmoplegic migraine: a case report and literature review. 1762 25

The differential diagnosis of painful ophthalmoplegia is extensive and consists of numerous sinister etiologies, including neoplasms (ie, primary intracranial tumors, local or distant metastases), vascular (eg, aneurysm, carotid dissection, and carotid-cavernous fistula), inflammatory (ie, orbital pseudotumor, giant cell arteritis, sarcoidosis, and Tolosa-Hunt syndrome), and infectious etiologies (ie, fungal and mycobacterial), as well as other miscellaneous conditions (ie, ophthalmoplegic migraine and microvascular infarcts secondary to diabetes). A systematic approach to the evaluation of painful ophthalmoplegia can lead to prompt recognition of serious disorders that can be associated with significant morbidity or mortality if left untreated. Inflammatory conditions such as Tolosa-Hunt syndrome and orbital pseudotumor are highly responsive to corticosteroids but should be diagnoses of exclusion.
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PMID:An approach to the patient with painful ophthalmoplegia, with a focus on Tolosa-Hunt syndrome. 1768 98

Although linked with cardiac dysfunction, the association of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and pulmonary artery hypertension (PAH) has not been previously described. PAH and right ventricular heart failure were identified by echocardiography in a 3-year-old boy with a history of hypotonia, microcephaly and developmental delay. He initially presented with a 10-day history of dyspnoea, dependent oedema and reduced oral intake. Lactic acidosis was noted on serial arterial blood sampling and cerebrospinal fluid. Muscle biopsy demonstrated cytochrome-c oxidase-positive 'ragged-red' fibres consistent with MELAS; subsequent analyses revealed the m.3243A>G point mutation most commonly associated with MELAS. The mutation was heteroplasmic, representing 92% of the total mtDNA from a lung sample. Nitric oxide and epoprostenol were administered without significant clinical or echocardiographic improvement of his PAH. A 'mitochondrial cocktail' including biotin, riboflavin, carnitine and coenzyme Q10 also was provided. Five months after presentation, he developed seizures; MRI imaging of his brain demonstrated multiple focal lesions. His clinical status worsened with increasing cardiopulmonary failure. He died two months later. Although therapy for both MELAS and PAH remains limited, recent investigations suggest a beneficial role for l-arginine in both conditions, implying a possible common pathophysiology. Mitochondrial diseases such as MELAS should be considered in cases of idiopathic PAH, particularly when associated with multisystem involvement including short stature, hearing loss, renal dysfunction, retinopathy, diabetes mellitus, migraines, seizures, ophthalmoplegia, fatigability and weakness.
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PMID:Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G). 1818 Oct 29

The International Headache Society (IHS) defines ophthalmoplegic migraine (OM) as recurrent attacks of headache with migrainous characteristics, associated with paresis of one or more ocular cranial nerves (commonly the third cranial nerve), and in the absence of any demonstrable intracranial lesion other than MRI changes within the affected nerve. According to the IHS criteria, it is diagnosed when at least two attacks with migraine-like headaches are accompanied with, or followed within 4 days of onset by, paresis of one or more of the third, fourth or sixth cranial nerves. Parasellar, orbital fissure and posterior fossa lesions should be ruled out by appropriate investigations. It is unlikely that OM is a variant of migraine, since the headache often lasts for a week or more and there is a latent period of up to 4 days from the onset of headache to the onset of ophthalmoplegia. Furthermore, in some cases MRI shows gadolinium uptake in the cisternal part of the affected cranial nerve and this suggests that the condition may be a recurrent demyelinating neuropathy. In general, patients demonstrated a: (1) prolonged time for symptom resolution to occur (median time 3 weeks); (2) tendency for recurrent episodes to have more severe and persistent nerve involvement; (3) evidence of permanent neurological sequelae with recurrent episodes (30% of patients); (4) rapid improvement and shortened duration with corticosteroid therapy and; (5) transient, reversible MRI contrast enhancement of the affected cranial nerve (86% of patients). Different pathogenetic mechanisms, which include compressive, ischemic and inflammatory, have been suggested for OM. Here, a 15-year-old Ethiopian with recurrent attacks of headache and third nerve palsy is presented. The subsequent discussion focuses on current evidences with regard to the clinical characteristics, possible pathogenetic mechanisms and treatment. Finally, a brief discussion of the situation in Africa will be presented.
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PMID:Ophthalmoplegic migraine in a 15-year-old Ethiopian: case report and literature review. 1912 69

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenotypes resemble those associated with recessive POLG1 mutations. We have previously described patients with infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C) or compound heterozygous (Y508C and A318T) Twinkle mutations. Our earlier reports focused on the spinocerebellar degeneration, but the 20-year follow-up of 23 patients has shown that refractory status epilepticus, migraine-like headaches and severe psychiatric symptoms are also pathognomonic for the disease. All adolescent patients have experienced phases of severe migraine, and seven patients had antipsychotic medication. Epilepsia partialis continua occurred in 15 patients leading to generalized epileptic statuses in 13 of them. Eight of these patients have died. Valproate treatment was initiated on two patients, but had to be discontinued because of a severe elevation of liver enzymes. The patients recovered, and we have not used valproate in infantile onset spinocerebellar ataxia since. The first status epilepticus manifested between 15 and 34 years of age in the homozygotes, and at 2 and 4 years in the compound heterozygotes. The epileptic statuses lasted from several days to weeks. Focal, stroke-like lesions were seen in magnetic resonance imaging, but in infantile onset spinocerebellar ataxia these lesions showed no predilection. They varied from resolving small cortical to large hemispheric oedematous lesions, which reached from cerebral cortex to basal ganglia and thalamus and caused permanent necrotic damage and brain atrophy. Brain atrophy with focal laminar cortical necrosis and hippocampal damage was confirmed on neuropathological examination. The objective of our study was to describe the development and progression of encephalopathy in infantile onset spinocerebellar ataxia syndrome, and compare the pathognomonic features with those in other mitochondrial encephalopathies.
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PMID:Recessive twinkle mutations cause severe epileptic encephalopathy. 1930 94

Ophthalmoplegic migraine (OM) is a rare disorder characterized by childhood onset, ophthalmoplegia and migraine headaches. The 3rd cranial nerve is commonly involved in recurrent attacks. Involvement of the sixth and fourth nerves is uncommon. GdMRI discloses enhancement of the nerves. Adult cases are rare and confined to case reports. A viral pathogenesis is considered to be the cause of OM in view of nerve enhancement. We look at the various aspects of OM in children and adults.
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PMID:Ophthalmoplegic migraine: past, present and future. 2022 57

Migraine is associated with stroke-like episodes in mitochondrial encephalomyopathy, lactic acidosis, stroke-like syndrome (MELAS). Moreover, abnormalities of oxidative phosphorylation are also reported in migraine. We studied two maternal lineages with MELAS and chronic progressive external ophthalmoplegia (CPEO) affected probands carrying the 3243 A>G tRNA(Leu) (MELAS) mutation, remarkable for a high frequency of subjects suffering only migraine. Thus, migraine could be a monosymptomatic expression of the MELAS mutation. We assessed the 3243 A>G tRNA(Leu) mutational load in skeletal muscle and other somatic tissues from the migraine-only subjects, as well as lactic acid levels after exercise. All migraine-only subjects did not carry the MELAS mutation. Muscle biopsy showed mild mitochondrial abnormalities in the non-mutant, migraine-only subjects and, occasionally, abnormal lactic acid. Clear features of mitochondrial myopathy and pathological lactic acid characterised the subjects carrying the MELAS mutation. Our study demonstrates that migraine-only subjects lacked the MELAS mutation, but still had a possible mtDNA-associated genetic predisposition, being maternally related and having some evidence of impaired mitochondrial oxidative phosphorylation.
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PMID:High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. 2065 3

We describe the case of a young woman suffering from migraine. After some years, the headache started to be accompanied by internal ophthalmoplegia. Mydriasis was unilateral and after a few months became bilateral. The ophthalmoplegic migraine is a rare type of headache and it is characterized by paresis of one or more of the third, fourth or sixth cranial nerves. Migraine attacks associated with mydriasis (internal ophthalmoplegia) are extremely rare. Triptan therapy resolved mydriasis, but not the headache.
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PMID:Unilateral headache with bilateral internal ophthalmoplegia. 2218 66


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