Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41-yr-old man was admitted with acute headache, neck stiffness, and febrile sensation. Cerebrospinal fluid examination showed pleocytosis, an increased protein level and, a decreased glucose concentration. No organisms were observed on a culture study. An imaging study revealed pituitary macroadenoma with hemorrhage. On the 7th day of the attack, confusion, dysarthria, and right-sided facial paralysis and hemiparesis were noted. Cerebral infarction on the left basal ganglia was confirmed. Neurologic deficits gradually improved after removal of the tumor by endoscopic transnasal transsphenoidal approach. It is likely that the pituitary apoplexy, aseptic chemical meningitis, and cerebral infarction are associated with each other. This rare case can serve as a prime example to clarify the chemical characteristics of pituitary apoplexy.
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PMID:Pituitary apoplexy complicated by chemical meningitis and cerebral infarction. 1816 29

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms according to the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). The prevalence of HM is one in 10,000 with FHM and SHM being equally frequent. Typical HM attacks include a motor weakness that is always associated with other aura symptoms, the most frequent being sensory, visual and speech disorders. In addition, basilar-type symptoms occur in up to 70% of the patients. Severe attacks may occur in FHM as well as in SHM with prolonged hemiplegia, confusion, coma, fever and seizures. The clinical spectrum also includes permanent cerebellar signs (nystagmus, ataxia, dysarthria) and less frequently various types of seizures and intellectual deficiency. FHM is the only variety of the autosomal dominant migraine and all three know genes encode ion-transporters. A genetic diagnosis is now possible by screening the three known genes involved in FHM (CACNA1A, ATP1A2 and SCNA1). Prognosis is usually good. Treatment is similar to approaches used in other varieties of migraine with aura, excepted for triptans that are contraindicated in MHF/MHS. Based on new pathophysiological insight, preventive treatments by various antiepileptic agents seem promising.
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PMID:[Familial and sporadic hemiplegic migraine]. 1840 71

A case of brainstem encephalitis in a man positive for both anti-Hu and anti-Ri antibodies is reported. This case had an unusual double step evolution and progressive involvement of different CNS subdivisions at MRI. Brainstem encephalitis developed abruptly, mimicking a posterior vascular deficit with vertigo and dizziness. These symptoms transiently remitted completely after a few days to relapse acutely 1 month later with sudden loss of consciousness, followed by confusion, disorientation, dysarthria, dysphagia and reduced thermic sensation on the right side. Within another few days, the patient developed acute respiratory failure and died some weeks later. MRI was negative at the beginning but later showed a progressive ascending involvement of the brainstem and thalamus. At autopsy, this picture corresponded to lymphocytic infiltration, preferentially B cells into the perivascular spaces and T cells in the brainstem parenchyma, confirming that T cells could be the effector of cytotoxicity, probably in the presence of cooperation with B cells that were well represented in this setting.
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PMID:Double step paraneoplastic brainstem encephalitis: a clinicopathological study. 1944 98

A 29-year-old man, with no significant past medical history, was in his usual state of health until the afternoon of admission. The patient was seated at work eating lunch when he suddenly noticed that his vision became blurry. He covered his right eye and had no visual difficulty but noted blurry vision upon covering his left eye. At this point, the patient tried to stand up, but had difficulty walking and noticed he was "falling toward his left." Facial asymmetry when smiling was also appreciated. The patient denied any alteration in mental status, confusion, antecedent or current headaches, aura, chest pains, or shortness of breath. He was not taking any prescribed medications and had no known allergies. The patient denied any prior hospitalization or surgery. He denied use of tobacco, alcohol, or illicit drugs, and worked as a maintenance worker in a hotel. His family history is remarkable for his father who died of pancreatic cancer in his 50s and his mother who died of an unknown heart condition in her late 40s. Vital signs on presentation to the emergency department included temperature of 97.6 degrees F; respiratory rate of 18 per minute; pulse of 68 per minute; blood pressure of 124/84 mmHg; pulse oximetry of 99% on ambient air. His body mass index was 24 and he was complaining of no pain. The patient had no carotid bruits and no significant jugular venous distention. Cardiovascular exam revealed a regular rate and rhythm with no murmurs. Neurological exam revealed left-sided facial weakness, dysarthria, and preserved visual fields. He was able to furrow his brow. Gait deviation to the left was present, and Romberg sign was negative. Deep tendon reflexes were 2+ throughout, and no other focal neurological deficit was present. The patient was admitted to the hospital with a diagnosis of stroke. Electrocardiogram, fasting lipid profile, computed tomography (CT) scan of head, magnetic resonance imaging (MRI) of head and neck, and transthoracic echo with bubble study were ordered. The initial head CT did not reveal bleeding. He was started on aspirin (ASA). On the second hospital day, the symptoms improved with resolution of dysarthria. His ataxia had also improved. Fasting lipid profile revealed mildly elevated low-density lipoprotein and total cholesterol. His head MRI revealed an acute right thalamic stroke. Echocardiography was significant only for a patent foramen ovale (PFO) with transit of agitated saline "bubbles" from right atrium to left heart within three cardiac cycles (Figure). Doppler ultrasound of extremities revealed no evidence of deep venous thrombosis. A complete resolution of symptoms occurred by the third hospital day. The patient was discharged on full dose aspirin and a statin and was referred for consideration of enrollment in a PFO closure versus medical management trial.
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PMID:Clinical case of the month. A 29-year-old man with acute onset blurry vision, weakness, and gait abnormality. Stroke. 2010 23

We describe a patient with a giant MS plaque developing during natalizumab administration whose clinical presentations mimicked PML. This 27year-old man developed new onset confusion, altered behavior, left hemianesthesia and worsening dysarthria, gait and balance with a new, large, rim-enhancing, temporoparietal subcortical lesion after four infusions of natalizumab. Cerebrospinal JC virus polymerase chain reaction was negative. No neutralizing antibody to natalizumab was detected. Following discontinuation of natalizumab, plasma exchange, and a single dose of 1000mg of methylprednisolone, he demonstrated clinical and radiographic improvement. Distinguishing PML from MS may be very difficult in some instances. The frequency with which an aggressive demyelinating disorder due to MS occurs during treatment with natalizumab remains to be determined.
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PMID:A giant MS plaque mimicking PML during natalizumab treatment. 2014 66

Topiramate is used to treat a variety of neurologic and psychiatric diseases due to its benign safety profile. Data regarding the toxicity and toxicokinetics of topiramate in acute overdose are limited. A case of massive, acute ingestion resulting in the highest reported topiramate level is presented, including toxicokinetic evaluation. A 37-year-old woman presented with coma unresponsive to naloxone following topiramate ingestion. She had normal vital signs without respiratory depression. She was intubated for airway protection, given 3.5 mg lorazepam IV for facial and neck muscle twitching, and transferred to our facility. No additional sedation was required for 18 h on the ventilator. Following mental status improvement, the patient was extubated. Confusion, dysarthria, and imbalance resolved over the next 2 days. Nonanion gap metabolic acidosis persisted for 3 days. Peak serum topiramate level was 356.6 microg/ml (reference range, 5-20 microg/ml). Massive topiramate ingestion led to prolonged coma with normal vital signs and nonanion gap metabolic acidosis. Coma of this severity has not been previously reported. Serum half-life, which has not been studied after overdose, was 16 h. Despite the large ingestion and significant presenting symptoms, the patient recovered fully with supportive intensive care alone. Massive acute topiramate ingestion may lead to nonanion gap metabolic acidosis and prolonged coma which resolves with intensive supportive care. Toxicokinetic data following large, suicidal ingestion of topiramate were similar to previously published pharmacokinetic information.
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PMID:Clinical effects and toxicokinetic evaluation following massive topiramate ingestion. 2037 93

Mexiletine is a class IB antiarrhythmic agent. Although it is primarily used in treating ventricular arrhythmias, recent indications for use of mexiletine include chronic and neuropathic pains. At high doses, mexiletine causes drowsiness, confusion, nausea, hypotension, sinus bradycardia, paresthesia, seizures, bundle branch block, atrioventricular heart block, ventricular arrhythmias, asystole, cardiovascular collapse, and coma. A 23-year-old male patient presented to the emergency department with intentional ingestion of high-dose mexiletine. Despite decontamination and supportive treatment, his vitals deteriorated during the observation period; and he developed stupor and dysarthria. Patient then underwent hemodialysis. His vital signs and overall condition improved rapidly following hemodialysis treatment. In this case report, we aimed to emphasize hemodialysis as a useful alternative therapy for severe mexiletine intoxications.
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PMID:Hemodialysis as an alternative treatment of mexiletine intoxication. 2097 96

Migraine is amongst the oldest of diseases known to mankind. Migraine is a heterogenous entity, usually characterised by periodic attacks of headache on one or both sides of the head. These may be accompanied by nausea, vomiting, increased sensitivity of the eyes to light (photophobia), increased sensitivity to sound (phonophobia), dizziness, blurred vision, cognitive disturbances, and other symptoms. Migraines are not always preceded by an aura and some migraines may not include headache. If migraine does not manifest itself in the form of headache but in some other form such as paroxysmal episodes of prolonged visual auras, atypical sensory, motor, or visual aura, confusion, dysarthria, focal neurologic deficits with or without a headache, it is labelled a Migraine Variant (MV). MV is therefore diagnosed by the history of paroxysmal symptoms with or without cephalgia and a prior history of migraine with aura, in the absence of other medical disorders that may contribute to the symptoms. Many of the MVs have been included and redefined in the revised edition of The International Classification of Headache Disorders (ICHD-II) 2004 classification. These include hemiplegic migraine, basilar migraine, childhood periodic syndromes, retinal migraine, complicated migraine and ophthalmoplegic migraine. Even though conditions such as vertiginous migraine, acute confusional migraine of childhood and nocturnal migraine are well recognized entities, they have not yet been included in IHCD-II, but will be discussed here in brief because they are relatively common conditions.
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PMID:Migraine variants and beyond. 2104 1

We report a case of primary diffuse leptomeningeal gliomatosis (PDLG) in a 76-year-old male presenting with confusion, dysarthria, diplopia, lumbal pain and headaches of recent onset. Neurological examination revealed nuchal rigidity and bilateral sixth cranial nerve palsy. The cerebrospinal fluid showed a marked hyperproteinorachia (4711 mg/L) and mild cytorachia (5-10 leucocytes/mm3) with a few atypical lymphoid cells. On admission, brain CT scan and MRI demonstrated diffuse and nodular leptomeningeal contrast enhancement predominant at the skull base and several osteolytic lesions in the right parietal bone. Extensive serological studies for infectious, autoimmune or neoplastic diseases were negative. The work-up diagnosis was neurosarcoidosis or multiple meningeal and osseous metastases of an unknown primary cancer. Surgical biopsy of the right parietal bone lesion showed only fibrous tissue with no evidence of tumour or inflammation. The patient was treated with high dose corticosteroids but its neurological status progressively worsened and he died of aspiration pneumonia 35 days after admission. Post-mortem examination revealed a PDLG, a rare fatal tumour with about 60 cases reported. PDGL is characterized by the diffusion of neoplastic glial cells throughout the leptomeninges without evidence of a primary intra-parenchymal lesion. Recognition of this rare brain tumour is important as recent reports suggest that radiotherapy and chemotherapy can improve patient survival.
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PMID:Primary diffuse leptomeningeal gliomatosis: an autopsy case and review of the literature. 2130 63

A 27-year-old Royal Marine presented to his sickbay following two episodes of sudden onset visual disturbance. A subsequent MRI Scan demonstrated ischaemic changes in the territory of his right posterior cerebral artery. Transthoracic echocardiography was normal but a bubble contrast study was strongly positive indicating the presence of a relatively large patent foramen ovale (PFO). He underwent endovascular closure of his patent foramen ovale and was subsequently upgraded back to full duties. A 35-year-old Army Sergeant presented with sudden onset collapse, right sided weakness, dysarthria and confusion. He was airlifted to a Host Nation hospital and following a normal CT head underwent thrombolysis in the Emergency Department. This was unsuccessful but a CT guided embolectomy led to complete resolution of symptoms. Subsequent transthoracic echo revealed a PFO. He underwent endovascular closure and has since been returned to full duties. The incidence of PFO is common affecting 27% of the population but the incidence of ischaemic stroke in young adults (aged 15-45 years old) is rare. This maybe linked to the size of the PFOs in symptomatic individuals. These case reports emphasise the requirement for further investigation of individuals presenting with collapse and persisting neurology. Differential diagnosis and initial management for primary care and pre-hospital clinicians is also reviewed.
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PMID:Significant neurological presentations in commando trained personnel: case studies and consideration of differential diagnosis. 2297 Jun 41


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