Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231530 (twitching)
 2,043 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) often presents with a history of migraine with aura and eventual manifestations of dementia with unrelenting, repeated cerebral vascular insults. Only 6-10% of patients with CADASIL have been reported to develop seizures, and status epilepticus (SE) is exceedingly rare. Here, we describe a patient who presented with recurrent SE, with eventual biopsy diagnosis of CADASIL. An 80-year-old woman presented to our hospital three times in two years with decreased level of consciousness and subtle intermittent right-sided upper extremity and facial twitching. There was no known significant family history and no past medical history for seizures, stroke, migraine headache, or overt dementia. Electroencephalography revealed recurrent focal seizures with left hemispheric onset and evolution, fulfilling the criteria for focal SE each time. All three admissions required sedation with midazolam to control seizure activity, in addition to high doses of multiple antiepileptic drugs. Brain MRI repeatedly showed extensive abnormalities in the periventricular and deep white matter, subcortical white matter, and bilateral basal ganglia. Skin biopsy was obtained on the third admission, and electron microscopy showed numerous deposits of granular osmiophilic material, which are pathognomonic for CADASIL. Detailed investigations failed to reveal any other etiology for the patient's condition. This case illustrates the potential for nonconvulsive SE to be the sole manifestation of CADASIL. With the appropriate brain MRI findings, CADASIL should be added to the list of rare causes of SE.
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PMID:Recurrent status epilepticus as the primary neurological manifestation of CADASIL: A case report. 2587 Jul 89

Background. Topiramate (TPM) is a psychotropic drug, which is used mainly as an antiepileptic drug and now over the years is used for a wider range of indications, including migraine prophylaxis and binge eating disorders. Although ocular side effects of Topiramate have been frequently reported, neuroophthalmologic manifestations such as myokymia are rarely reported. Case Presentation. This case report presents a case of a 47-year-old woman who had begun TPM for binge eating problem. She developed unilateral long standing lower eyelid twitching, which progressed to upper eyelid and eyebrow at the same side. The patient was not a smoker or excessive alcohol or caffeine abuser. Increasing the resting time and changing life style made no significant changes in her eyelid twitching. There was no definite evidence by neuroimaging and clinical or laboratory evaluations causing eyelid myokymia. The symptoms resolved with discontinuation of TPM. Conclusion. Although eyelid myokymia is a benign and self-limited condition, it sometimes becomes a source of distress in chronic long standing cases. Physicians should be aware of the neuroophthalmologic side effects of this drug.
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PMID:Topiramate-Induced Persistent Eyelid Myokymia. 2729 43

BACKGROUND Anti-LGI1 encephalitis is a type of autoimmune limbic encephalitis. This case report elucidates features of anti-LGI1 limbic encephalitis, focusing on clinical findings and outcome as well as on rarely reported sinus arrest and its pathophysiology. CASE REPORT A 49-year-old female patient presented at the Emergency Department (ED) because of twitching and an acute confusional state. Initial neurological examination revealed cognitive disturbance with disorientation, inattention, and amnestic deficits. While in the ED, twitching of the right arm was observed and shortly thereafter she experienced a sinus arrest. A temporary cardiac pacemaker was implanted. Laboratory investigations demonstrated mild hyponatremia and positive LGI1-IgG antibodies in serum. An initial head MRI was unremarkable and electroencephalography showed epileptic seizure activity starting focally in the left hemisphere synchronous with the intermittent twitching of the right arm. A seizure-suppressant therapy with levetiracetam, valproate, and gabapentin was initiated, as well as an immunosuppressive pulse therapy with methylprednisolone followed by a tapering oral regimen of prednisolone. Within a few days, the seizures ceased. One month later, neurocognitive test results were back to normal. At 2 years, mild depressive symptoms and anxiety disorder were the main clinical problems, as well as episodic migraine-like headaches. CONCLUSIONS Repetitive focal dystonic seizures, confusion, amnestic deficits, sinus arrest, and mild-to-moderate hyponatremia are pathognomonic features of anti-LGI1 limbic encephalitis. Sinus arrest may occur because of a direct pathophysiological dysfunction of the structures involved in autonomic cardiac rhythm control or as an ictal or postictal phenomenon. Early diagnosis and initiation of immunosuppressive therapy are both of utmost importance for favorable clinical outcome.
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PMID:Syncope and Twitching at the Emergency Department. 3144 80