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 67-year-old woman developed gait disturbance, dysarthria, cognitive impairment and incontinence at age 65, and became bedridden. She showed mutism, stupor and lower limb spasticity. Cranial CT and MRI revealed marked ventricular enlargement and a cerebellopontine angle tumor. CSF study showed normal pressure (125 mmH2O) and elevated protein (143 mg/dl). Radionuclide cisternography showed redistribution of radionuclide to the ventricles and intraventricular residual radionuclide after 72 hours, which allowed a diagnosis of normal pressure hydrocephalus. After removal of the tumor, ventricle size and CSF protein decreased, and the symptoms of cognitive impairment and motor dysfunction resolved. Histological examination showed acoustic neurinoma. Over the half of hydrocephalus following acoustic neurinoma shows a tendency to improve by surgical resection of the tumor. Neurologists who see cognitively impaired spastic bedridden patients should not overlook this pathology.
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PMID:[An improved case of bedridden mental impairment with normal pressure hydrocephalus associated with acoustic neurinoma after tumor resection]. 1893 77

A 71-year-old man presented with quadriplegia, seizures, dysarthria, motor aphasia and urinary incontinence lasting for several years. The development of proteinuria and increased susceptibility to infections brought the physician's attention to possible underlying autoimmune diseases. Laboratory investigations revealed evidence for systemic lupus erythematosus (SLE) and antiphospholipid syndrome. Imaging studies showed obstructive hydrocephalus. Several courses of methylprednisolone therapies followed by maintenance therapy with low-dose steroid, ventriculoperitoneal shunt, and antihypertensives improved the proteinuria and dysarthria but not the urinary incontinence or dementia. A thromboembolic event in the central nervous system secondary to phospholipid antibodies or lupus activity may represent a pathogenetic basis for hydrocephalus. When encountering a patient with hydrocephalus but without apparent predisposing factors, it is always important to include SLE as a differential diagnosis.
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PMID:Hydrocephalus in an elderly man with systemic lupus erythematosus. 1951 33

A 50-year-old epileptic woman affected by hydrocephalus due to aqueductal stenosis was admitted to the hospital because of headache, dysarthria, and mild lateral pulsion. Cranial computed tomography (CT) revealed left cerebellar hemorrhage. Subsequent magnetic resonance imaging (MRI) of the brain demonstrated an enlarged ventricular system unchanged from prior studies. Flow-sensitive phase-contrast (PC) cine magnetic resonance imaging showed flow absence through the aqueduct and flow pulsations through the third ventricle floor in systole and diastole, consistent with spontaneous third ventricle patency. On stationary tissue images, the third ventricle floor and the mamillary body were displaced downward at systole and upward at diastole. Stenosis of the cerebral aqueduct of Sylvius was also shown. Retrospective evaluation of the sagittal T2-weighted images disclosed flow void at the level of the third ventricle floor. On-off movements of the third ventricle floor could account for chronic hydrocephalus persistence by an en valve mechanism. Spontaneous third ventriculostomy (STV) was diagnosed on the basis of these findings. STV is a rare condition occurring in chronic obstructive hydrocephalus patients as a result of longstanding pulsations against the walls of the third ventricle, the floor in particular. We reviewed the literature to establish which imaging and clinical findings could improve the identification of STV in patients affected by obstructive hydrocephalus.
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PMID:Phase-contrast cine MRI revealing en valve mechanism in spontaneous third ventriculostomy: report of a case and literature review. 2164 16

We observed a patient with subcutaneous seeding from gliomatosis cerebri with a low-grade histopathology. A 33-year-old woman with neurofibromatosis type 1 presented with progressive headache, diplopia, dysphagia, and a rightward instability. On neurological examination dysarthria, gait ataxia, and left-sided central facial and hypoglossal palsies were determined. MRI of the brain demonstrated diffuse, infiltrative non-enhancing lesions in the pons, both cerebellar hemispheres, the parahippocampal gyrus, and the thalamus. A stereotactic biopsy demonstrated an astrocytoma WHO grade 2. These characteristics confirmed gliomatosis cerebri. Three months later, the patient presented with hydrocephalus and a subcutaneous swelling directly underneath the surgical scar. The subcutaneous swelling was removed and the hydrocephalus was treated by ventriculoperitoneal shunting. Histopathological examination confirmed a subcutaneous manifestation of low-grade oligoastrocytoma. Gliomatosis cerebri with low-grade histology can seed subcutaneously.
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PMID:Subcutaneous tumor seeding after biopsy in gliomatosis cerebri. 2183 41

Acute cerebellar ataxia and acute cerebellitis represent a process characterized by parainfectious, postinfectious, or postvaccination cerebellar inflammation. There is considerable overlap between these entities. The mildest cases of acute cerebellar ataxia represent a benign condition that is characterized by acute truncal and gait ataxia, variably with appendicular ataxia, nystagmus, dysarthria, and hypotonia. It occurs mostly in young children, presents abruptly, and recovers over weeks. Neuroimaging is normal. Severe cases of cerebellitis represent the other end of the spectrum, presenting with acute cerebellar signs often overshadowed by alteration of consciousness, focal neurological deficits, raised intracranial pressure, hydrocephalus, and even herniation. Neuroimaging is abnormal and the prognosis is less favorable than in acute cerebellar ataxia. Acute disseminated encephalomyelitis may be confused with acute cerebellitis when the clinical findings are predominantly cerebellar, but lesions on neuroimaging are usually widespread. Paraneoplastic opsoclonus-myoclonus syndrome is often initially misdiagnosed as acute cerebellar ataxia, but has very specific features, course, and etiopathogensis.
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PMID:Acute cerebellar ataxia, acute cerebellitis, and opsoclonus-myoclonus syndrome. 2280 51

Here, we report a rare case of an anaplastic astrocytoma masquerading as a hypertensive basal ganglia hemorrhage. A 69-year-old woman who had been under medical management for hypertension during the past 3 years suddenly developed right hemiparesis with dysarthria. Brain computed tomography (CT) scans with contrast and CT angiograms revealed an intracerebral hemorrhage (ICH) in the left basal ganglia, without an underlying lesion. She was treated conservatively, but underwent a ventriculoperitoneal shunt operation 3 months after the initial attack due to deteriorated mental status and chronic hydrocephalus. Three months later, her mental status deteriorated further. Magnetic resonance imaging (MRI) with gadolinium demonstrated an irregular enhanced mass in which the previous hemorrhage occurred. The final histological diagnosis which made by stereotactic biopsy was an anaplastic astrocytoma. In the present case, the diagnosis of a high grade glioma was delayed due to tumor bleeding mimicking hypertensive ICH. Thus, a careful review of neuroradiological images including MRI with a suspicion of tumor bleeding is needed even in the patients with past medical history of hypertension.
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PMID:Glioma mimicking a hypertensive intracerebral hemorrhage. 2417 27

An 84-year-old male with a 3-month history of headache and elevated C-reactive protein levels was admitted for biopsy of the superficial temporal artery, which led to the diagnosis of giant cell arteritis (GCA). Two days after prednisolone therapy was initiated, the patient began to experience transient vertigo attacks. Two days later, dysarthria, left-sided hemiparesis, right abducens palsy, and horizontal nystagmus developed. Magnetic resonance (MR) imaging disclosed fresh infarctions in the vertebrobasilar territory. Since the patient became drowsy because of brainstem compression and hydrocephalus due to cerebellar swelling, emergency suboccipital decompression surgery and ventricular drainage were performed. Subsequently, the patient's consciousness levels improved. MR angiography revealed right vertebral artery (VA) occlusion and left VA stenosis due to arteritis. Ischemic stroke is a serious though relatively rare complication of GCA. Similar cases have been reported, in which ischemic stroke developed despite or possibly due to steroid therapy. To our knowledge, this is the first description of vertebrobasilar infarction associated with GCA in the Japanese population. The merits and potential demerits of steroid therapy are briefly discussed.
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PMID:Vertebrobasilar infarction related to giant cell (temporal) arteritis: case report. 2439 Jan 82

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.
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PMID:Spinocerebellar ataxia 15: A phenotypic review and expansion. 2790 16

Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical symptoms associated with CM-I, including suboccipital headache, weakness in the upper extremities, facial numbness, loss of temperature sensation, ataxia, diplopia, dysarthria, dysphagia, vomiting, vertigo, nystagmus, and tinnitus. Syncope is one of the rarest presentations in patients with CM-I. There are many hypotheses regarding the causes of syncope in patients with CM-I; however, the mechanisms are not clearly understood. Although surgical decompression for CM-I in patients with syncope has yielded good clinical results in some studies, such cases are rarely reported. We report a case of orthostatic syncope in a patient with CM-I who was treated with surgical intervention.
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PMID:Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery. 2801 69

A 38-year-old woman presented with cervical dystonia in the context of a recent surgery to remove a vestibular schwannoma. She initially presented to neurology with pain in the right arm, and MRI of the brain showed an incidental right-sided vestibular schwannoma (Video 1, Segment 1). An elective gamma-knife procedure was performed, which failed. Hydrocephalus requiring ventriculoperitoneal shunt insertion developed, and 3 years following the initial procedure the lesion was surgically excised. Surgery was further complicated by right middle cerebellar peduncle injury, extending to the cerebellopontine angle and marginally to the right pontine tegmentum, with subsequent mass effect on cerebellum displayed on follow-up MRI (Video 1, Segment 2). Six months later, the patient experienced forced head deviation to the right, with difficulty moving from this position. Examination revealed clear right-sided torticollis, with hypertrophy of the left sternocleidomastoid muscle. Cervical dystonia worsened with action and nearly resolved with the patient lying down. A clear geste antagoniste, where symptoms improved with the patient touching the side of her head, was present (Video 1, Segment 3). Findings consistent with injury to the cerebellar pathways were additionally exhibited. She demonstrated clear dysarthria, bilateral dysmetria, dysdiadochokinesia (worse on the right), and prominent gait ataxia (Video 1, Segment 4). Although a possible role of the schwannoma itself in the cervical dystonia pathogenesis cannot be entirely ruled out, the timing of signs, occurring soon after the postsurgical injury, suggest a prominent involvement of structures lying within the cerebellar pontine angle.
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PMID:Cervical Dystonia Following Injury to the Cerebellar Pontine Angle: An Instructive Case. 3063 92


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