Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary intracranial melanomas are rare, especially in the primary cerebellopontine angle. We describe a patient with a presumed jugular foramen meningioma that was found to be of melanotic origin at surgery. We followed this 26-year-old woman with mild ataxia with serial imaging for 18 months after the initial discovery of a cerebellopontine angle extra-axial mass. She developed worsening symptoms of ataxia, dysphagia, and right-sided hearing loss. Magnetic resonance imaging showed an interval increase in size of the mass. The lesion was thought to be a meningioma with a dural tail that extended into the jugular foramen and hypoglossal canal. She underwent preoperative angiography and attempted tumor embolization, followed by resection via a transcochlear infratemporal approach. At surgery the lesion was found to be heavily pigmented. Pathological analysis was consistent with a low-grade melanoma. No primary extracranial site was identified. One year after surgery the patient remains free of systemic disease or recurrence.
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PMID:Primary Malignant Cerebellopontine Angle Melanoma Presenting as a Presumed Meningioma: Case Report and Review of the Literature. 1591 73

A 69-year-old man was referred to our department because of acute onset nausea, vomiting, dysphagia, dysarthria and gait disturbance. He had a 50-day-history of amebic dysentery and had been treated with 1,500 mg metronidazole per day. Neurological examination revealed dysphagia, ataxic speech, ataxia of the left extremities and the trunk, and hyperactive deep tendon reflexes in all extremities. Sensory impairment of all modalities was apparent in a glove and stocking pattern, with mild paresthesia. Brain MRI showed T2 high signal lesions in the bilateral cerebellar dentate nuclei, more markedly on the left. On brain SPECT, obvious low blood perfusion was observed in the left cerebellar hemisphere. These findings well explained the ataxia of the left limbs. One month after discontinuing metronidazole, the cerebellar ataxia, dysphagia and MRI abnormalities completely cleared. Therefore, central nervous system damage induced by metronidazole is considered reversible. In spite of the presence of the MRI lesion in the right dentate nucleus, the patient had no ataxia of the right extremities and there was no hypoperfusion in the right cerebellar hemisphere. Thus, metronidazole does not appear to have a direct neurotoxic effect on the central nervous system. On the other hand, nerve conduction studies showed axonal polyneuropathy, which was not improved one month after cessation of the drug; thus metronidazole seems to exert more damage on peripheral nerves.
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PMID:[MRI and SPECT findings in a case of metronidazole-induced reversible acute cerebellar ataxia]. 1596 Jan 79

Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia). Positon emission tomography (PET) disclosed thalamic hypometabolism and milder involvement of the cortex; neuropathology severe neuronal loss in the thalamic nuclei variably affecting the caudate, gyrus cinguli and fronto-temporal cortices. Genetic analysis disclosed a mutation in the PRNP gene and FFI was transmitted to experimental animals, thus classifying FFI within the prion diseases. Rare Sporadic Fatal Insomnia (SFI) cases occur without PRNP mutation but with features similar to FFI. FFI represents a model disease for the study of sleep-wake regulation: (I) the profound thalamic hypometabolism/atrophy associated with lack of sleep spindles and delta sleep implicate the thalamus in the origin of slow wave sleep (SWS); (II) loss of SWS is associated with marked autonomic and motor hyperactivity; termed 'agrypnia excitata', this association has been proposed as a useful clinical concept representative of thalamo-limbic dysfunction; (III) lack of SWS occurs with substantial preservation of stage 1 NREM sleep, implying that the latter has mechanisms different from SWS and unaffected by thalamic atrophy; accordingly, conflating stage 1 NREM with SWS into NREM sleep is inappropriate.
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PMID:Fatal familial insomnia: a model disease in sleep physiopathology. 1610 94

We describe here the first documented case in Austria of the cattle ear mite Raillietia auris in a four-year-old dairy cow. The cow was mildly depressed, and keratoconjunctivitis was diagnosed in both eyes with Horner's syndrome in the left eye. The animal showed a mild head tilt to the left and a generalized ataxia with a tendency to move to the right side, which became exacerbated if the animal was blind-folded. Head pressing to the right side, dysphagia and a dropped jaw were also observed. Numerous rather mobile ear mites were observed at necropsy in the basal part of the left ear canal. The clinical significance of the cattle ear mite is uncertain and the clinical signs could have been caused by listerial encephalitis, which was also confirmed histologically in this case.
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PMID:Occurrence of the ear-mite Raillietia auris in cattle in Austria. 1642 97

Arnold-Chiari I malformation (Chiari I) is a congenital disorder characterized by caudal herniation of cerebellar tonsils through the foramen magnum. The symptoms and signs include headaches precipitated by coughing or exertion, dizziness, visual or oculomotor symptoms, dysphagia, trunk or extremity dysesthesias, ataxia, and drop attacks indicating cerebellar or cervical cord lesion. The symptoms may be provoked by increased intracranial pressure. The mean age of onset of symptoms is 25 years; consequently, previously unidentified Chiari I malformations occur in military personnel. Chiari I is associated with deaths following minor trauma, with acute respiratory failure, and with transient quadriparesis occurring in contact sports. Furthermore, Chiari I symptoms may be aggravated by chiropractic manipulation. This report describes symptoms and signs of Chiari I in four military conscripts in the Finnish Defense Forces. It is important to detect Chiari I in military personnel to establish appropriate service fitness and safety for these patients.
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PMID:Arnold-Chiari malformation type I in military conscripts: symptoms and effects on service fitness. 1657 91

Paraneoplastic cerebellar degeneration (PCD) is a rare syndrome associated with systemic malignancies, most in lung and ovarian cancer. Cerebellar ataxia has previously been associated with the presence of anti-Purkinje cell antibodies (anti-Yo) in the serum and cerebrospinal fluid and responses to therapy are uncommon. We reported two patients were identified with delayed onset of PCD associated with high titer of CSF anti-Yo (1:30,000, 1:320 U/ml) and a marked elevation of tumor markers for ovarian cancer (CA-125 17,700 ng/ml, 43 ng/ml) titer 1 year and 6 months prior to discovery of the carcinoma. Both developed subacute onset of severe ataxia, dysarthria, tremor, nystagmus with progression to severe debilitation (wheelchair bound or bedridden status). One of these patients also developed dysphagia that required PEG tube feeding. They were treated with six cycles of intravenous immunoglobulin (IVIG) 0.4 gm/kg/day x 5 days, every 4-6 weeks in conjunction with combination chemotherapy of Taxol and Carboplatin after the surgical resection of ovarian cancer. In each case, a significant improvement of neurological deficits were seen after the third cycle of IVIG, approximately 4 months after initiation of treatment. This type of delayed response is contrary to the previous reports. Both patients could ambulate without assistance in correlation with dramatic decrease in anti-Yo titer (1:80, 1:320 U/ml) and CA-125 (11 ng/ml, 8 ng/ml). This is a first report of benefit from IVIG in patients with late onset of PCD, which showed a delayed response with significant neurological improvement.
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PMID:Neurologic improvement after high-dose intravenous immunoglobulin therapy in patients with paraneoplastic cerebellar degeneration associated with anti-Purkinje cell antibody. 1677 14

Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. Based upon a comprehensive study of 13 unrelated adult patients diagnosed in France over the past 20 years as well as the analysis of the 55 other cases published since 1969, we have attempted to delineate the major clinical, radiological, biochemical and genotypic characteristics of adult NPC. Overall, mean age at onset (+/-SD) of neuropsychiatric symptoms was 25 +/- 9.7 years. The diagnosis of NPC was established after a mean delay of 6.2 +/- 6.4 years and the mean age at death (calculated from 20 cases) was 38 +/- 10.2 years. Major clinical features included cerebellar ataxia (76%), vertical supranuclear ophthalmoplegia (VSO, 75%), dysarthria, (63%), cognitive troubles (61%), movement disorders (58%), splenomegaly (54%), psychiatric disorders (45%) and dysphagia (37%). Less frequent signs were epilepsy and cataplexy. During the course of the disease, clinical features could be subdivided into (i) visceral signs (hepatomegaly or splenomegaly), (ii) cortical signs (psychiatric cognitive disorders and epilepsy); and (iii) deep brain signs (VSO, ataxia, movement disorders, dysarthria, dysphagia, cataplexy) which exhibited different evolution patterns. Asymptomatic and non-evolutive visceral signs were often noticed since early childhood (38.5% of our patients), followed by mild cortical signs in childhood (learning difficulties) and early adulthood (62% of cases among which 38% were psychiatric disorders). Deep brain signs were observed in 96% of patients and were usually responsible for death. In general, there was a good correlation between clinical signs and the localization of brain atrophy on MRI. The 'variant' biochemical phenotype characterized by mild abnormalities of the cellular trafficking of endocytosed cholesterol was over-represented in the adult form of NPC and seemed associated with less frequent splenomegaly in childhood and lesser psychiatric signs. Involvement of the NPC1 gene was shown in 33 families and of the NPC2 gene in one. Improving the knowledge of the disease among psychiatrists and neurologists appears essential since emerging treatments should be more efficient at the visceral or cognitive/psychiatric stages of the disease, before the occurrence of widespread deep brain neurological lesions.
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PMID:The adult form of Niemann-Pick disease type C. 1700 72

A neuronal storage disease affecting 5 captive Humboldt penguins is described. One bird died after 3 days of lethargy and anorexia. The 4 remaining birds died after a slowly progressing course of disease with signs that included lethargy, weakness, and neurologic dysfunction. Neurologic signs included dysphagia and ataxia. Gross lesions in the first animal to die consisted of hepatosplenomegaly indicative of avian malaria, which was confirmed histologically. The 4 remaining animals were mildly to moderately emaciated. Moderate to marked vacuolation of the neuronal perikarya was observed in Purkinje cells, neurons of the brainstem nuclei, and motorneurons of the spinal cord in all birds. By electron microscopy the vacuoles represented multilayered concentric lamellar structures. These findings were indicative of sphingolipidosis. All animals had been prophylactically treated for avian malaria, aspergillosis, and possible bacterial infections with chloroquine, itraconazole, and enrofloxacin. Circumstantial evidence implicates chloroquine therapy as the possible cause of the storage disease.
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PMID:Neuronal storage disease in a group of captive Humboldt penguins (Spheniscus humboldti). 1709 67

We report on a 36 years-old man that had been at the Amazon forest four years before. Six months before the admission he had developed a progressive quadriparesis, gait ataxia, dysphagia, dysarthria, difficulty in breathing and hiccup. The gadolinium-enhanced T1-weighted MRI showed a lesion into the right parietoccipital area and another into the medulla, that was the largest. There was any evidence of tuberculosis or AIDS. The patient was submitted to microsurgical approach to the medulla. Pathological examination revealed paracoccidioidomycosis. Treatment with anphotericin B till 2100 mg was administered followed by sulfamethoxazole-trimetoprim for three months plus physical therapy. The patient went back to his activities six months after the end of the treatment. Comments are presented about the participation of the immunological system and of the cytokines (interleukines).
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PMID:[Paracoccidioidomycosis in cerebral hemisphere and brainstem: case report]. 1711 20

For five years, a 56-year-old woman had undergone "Shiatsu" (a technique that uses fingers and the palm of the hand to apply pressure to particular sections of the body's surface to correct neck stiffness and body imbalances in order to maintain and promote health). She suddenly developed neck pain, dizziness, dysphagia, and speech and gait disturbances during treatment. A neurological examination detected bradylalia and truncal and mild bilateral limb ataxia of the cerebellar type. Diffusion-weighted brain MRI showed multiple hyperintense signal lesions at the bilateral cerebellar hemisphere in the posterior inferior cerebellar artery territory. Three-dimensional computed tomographic angiography (3D-CTA) revealed irregular stenosis of the intracranial right vertebral artery (string sign). Dissection of the intracranial portion of the vertebral artery owing to trauma is rare. Physicians need to be aware of patients who have acute dissecting infarction after long periods of repeated trivial pressure such as "Shiatsu". 3D-CTA is a very useful diagnostic procedure for arterial dissection.
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PMID:[Bilateral cerebellar infarction caused by intracranial dissection of the vertebral artery after long periods of "Shiatsu"]. 1731 59


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