Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary Sjogren's syndrome has a wide clinical spectrum, ranging from an exocrinopathy to a systemic process and even extending to B-lymphocyte neoplasia. We describe a patient with this syndrome who developed central nervous system involvement manifested by involuntary dystonic movements of the mouth and larynx. We believe that the neurological involvement in this patient is part of his basic disease. Further studies are required to define more accurately the frequency, severity and spectrum of the neurological manifestations associated with primary Sjogren's syndrome.
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PMID:[Neurologic complications of primary Sjogren's syndrome]. 186 18

Blepharospasm-oromandibular dystonia is characterized by the presence of spasms of the orbicularis oculi (blepharospasm) and of the lower facial or oromandibular muscles. A patient with this syndrome is presented in which a left cerebellopontine angle meningioma appeared to act as a triggering mechanism for the development of this disorder. On the basis of this report, we recommend that physicians search for this tumor in patients with this disorder.
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PMID:Blepharospasm-oromandibular dystonia associated with a left cerebellopontine angle meningioma. 225 4

We report three children with benign paroxysmal torticollis (BPT) and review the literature. BPT represents a self-limited disorder that occurs mainly in infancy and in females. The condition is characterized by recurrent spells of torticollis which may, or may not, be accompanied by other symptoms such as vomiting, pallor, ataxia, irritability and drowsiness. The diagnosis of BPT should be established clinically, although, in some cases, it is necessary to rule out conditions such as posterior fossa tumor, cervical dislocation, ocular palsy, dystonia due to side effects of drugs, or Sandifer's syndrome. The etiology of the syndrome remains unknown and, at present, there is no effective therapy.
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PMID:[Benign infantile paroxysmal torticollis. Apropos of 3 cases]. 305 50

Ehrlich ascites tumors were transplanted into the soft tissue of albino mouse hind leg. It was found that vascularization in tumor tissue proceeds in step with relevant morphologic alterations. The formation of three patterns of blood circulation system in tumor is completed within 7 days. Tumor transplantation is followed by pronounced vascular dystonia development and venous plethora. These changes are particularly distinct in lymph nodes in the zone adjacent to tumor.
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PMID:[Microroentgenography of transplantable tumors]. 685 67

We report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.
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PMID:Cervical dystonia due to spinal cord ependymoma: involvement of cervical cord segments in the pathogenesis of dystonia. 756 33

Writer's cramp is frequently associated with hand tremor and with other focal dystonias. Sometimes brain infarction, haemorrhage, arterio-venous malformations or tumors are found to cause symptomatic focal dystonias. A 44-year-old man came to our attention due to writer's cramp of his right hand and postural 6-8 Hz tremor. About three months after the onset of the disease the tremor and dystonia disappeared, while a right hemiparesis gradually appeared. Cranial computed tomography showed a hypodense nonhomogeneous lesion in the left cerebral hemisphere parietally, that was assumed to represent a cystic tumor. The patient underwent craniotomy and the histological diagnosis revealed an astrocytoma (Grade II-III). In conclusion our findings confirm the common anatomical basis of symptomatic focal dystonia and tremor. Both can appear after disruption of the pathways within and adjacent to the basal ganglia.
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PMID:Writer's cramp and tremor due to brain tumor. 775 78

Parkinsonism is an uncommon movement disorder in childhood. Six unusual cases of acquired parkinsonism in hospitalized children are described. Clinical manifestations included an akinetic-rigid syndrome with and without tremor, the combination of parkinsonism and dystonia, and a parkinsonism-plus syndrome. Altered mental status, mutism, dysphagia, and sialorrhea were frequent associations. Etiologies included hypoxic-ischemic encephalopathy; haloperidol treatment with and without neuroleptic malignant syndrome; toxicity of cytosine arabinoside, cyclophosphamide, amphotericin B, and methotrexate; St. Louis encephalitis and other encephalitides; and a pineal tumor with hydrocephalus. Cranial magnetic resonance imaging results ranged from normal to profound cerebral and cerebellar atrophy with chemotherapeutic toxicity. The illnesses usually were severe enough to require pharmacotherapy. Incorrect diagnoses of depression or catatonia delayed treatment or aggravated the problem. Acute treatment included amantadine, levodopa/carbidopa with or without selegiline, diphenhydramine, or benztropine. The concentration of CSF homovanillic acid was normal in a neuroleptic-associated patient, but the level was low in an encephalitic patient. All patients demonstrated dramatic improvement, including two who were not treated; some had complete resolution of symptoms and none required continued antiparkinsonian drugs despite poor scores on the Unified Parkinson's Disease Rating Scale and the Modified Hoehn and Yahr Rating Scales. The causes of parkinsonism described are more common in a general pediatric hospital than the parkinsonism associated with the popularized Segawa syndrome.
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PMID:Clinical spectrum of secondary parkinsonism in childhood: a reversible disorder. 802 61

A rare case of basal ganglionic angioleiomyoma in a 12-year-old girl is reported. She presented with features of raised intracranial tension, multifocal seizures, left hemidystonia and apraxia of eyelid closure. Cranial CT scan showed a large hypodense lesion with an enhancing mural nodule in the region of head of the caudate nucleus on the right side. The lesion was extending to the posterior limb of internal capsule postero-medially and to globus pallidus laterally. Another small, hyperdense, enhancing lesion was seen in the region of globus pallidus on the left side. The right basal ganglionic mass was excised through frontal craniotomy. Histopathological, Immunocytochemical and Ultrastructural examination of the right basal ganglionic mass showed features characteristic of angioleiomyoma. Following surgery the patient improved initially with respect to dystonia but worsened later on. Repeat cranial CT, 20 months after surgery, showed bilateral frontotemporal atrophy without any tumor recurrence while the lesion on the left side remained quiescent.
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PMID:Basal ganglionic angioleiomyoma. 888

Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal dominant and subject to age-dependent penetrance and imprinting. The paraganglioma gene (PGL1) has been mapped to 11q22.3-q23, and recently germline mutations in the SDHD gene have been identified. The SDHD region contains another gene, DPP2/TIMM8B, the homolog of which causes dystonia and deafness seen in Mohr-Tranebjaerg syndrome. Using four PGL pedigrees, two of which exhibit coinheritance of PGL and sensorineural hearing loss or tinnitus, analysis of 14 microsatellite markers provided support for linkage to the PGL1 locus. Sequence analysis identified novel mutations in exon 1 and exon 3 of the SDHD gene, including a novel two base pair deletion in exon 3 creating a premature stop codon at position 67; a novel three base pair deletion in exon 3 resulting in the loss of Tyr-93; a missense mutation in exon 3 resulting in the substitution of Leu-81 for Pro-81; and a novel G-to-C substitution in exon 1 resulting in the substitution of Met-1 for Ile-1. No base changes were detected in the DPP2/TIMM8B gene. There was no apparent loss of heterozygosity at the site of the SDHD mutations. However, RT-PCR analysis of tumor samples showed monoallelic expression of the mutant (paternal) allele as expected for imprinting. This has not previously been shown for this disorder. The inheritance and expression of the SDHD gene is consistent with the PGL1 gene being subject to genomic imprinting.
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PMID:Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 1139 96

We identified the IgG autoantibody ANNA-2 ("anti-Ri") in 34 patients in a 12-year period by immunofluorescence screening of sera from approximately 75000 patients with subacute neurological disorders that were suspected to be paraneoplastic. Detailed clinical information was available for 28 patients (10 men, 18 women). Cancer was diagnosed in 24 patients (86%); 21 had histologically proven carcinoma (10 lung, 9 breast, 1 cervical, 1 bladder), and 3 had an intrathoracic imaging abnormality. Cancer anteceded neurological symptoms in 4 of 28 patients. Cancer detection frequency increased with continued surveillance. Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, encephalopathy, Lambert-Eaton syndrome, and seizures. Four patients had laryngospasm and four had jaw opening dystonia (two with neck dystonia). Nine (32%) were wheelchair-bound 1 month after neurological symptom onset. Most improved neurologically after immunomodulatory or tumor-directed therapy. Accompanying autoantibodies, found in 73% of sera, included ANNA-1, ANNA-3, CRMP-5-IgG, P/Q-type and N-type Ca(2+) channel antibodies, and muscle-type acetylcholine receptor antibody. Some neurological accompaniments of ANNA-2 may reflect potentially pathogenic humoral or cell-mediated responses to coimmunogenic tumor antigens, for example, Lambert-Eaton syndrome (P/Q-type Ca(2+) channel antibody) and peripheral neuropathy (ANNA-1 effector T cells).
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PMID:Anti-neuronal nuclear autoantibody type 2: paraneoplastic accompaniments. 1273 Sep 91


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