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)

A 36-year-old woman presented with acute-onset right lower extremity paresthesias, dysarthria, right facial droop, and right hemiparesis. CT and MR imaging of the brain revealed extensive white matter disease and left basal ganglia infarction with dural and leptomeningeal enhancement. Differential considerations included vasculitis, granulomatous disease, and neoplasm. Chest, abdomen, and pelvis CTs were normal. Right temporal lobe biopsy revealed noncaseating granulomatous inflammation consistent with neurosarcoidosis.
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PMID:Neurosarcoidosis presenting as acute infarction on diffusion-weighted MR imaging: summary of radiologic findings. 1721 30

Long-standing ankylosing spondylitis may predispose a patient to serious cervical injury in the setting of minor trauma. Early diagnosis is essential to a favorable outcome. We report a 75-year-old man whose relatively minor trauma in the setting of AS resulted in a cervical fracture and callus formation, which masqueraded as a tumor. The patient developed neck pain, bilateral hypoglossal nerve palsy with dysarthria, and dysphagia that ultimately resulted in his death. This case illustrates progressive neurologic signs of gradual disarticulation of the skull from the cervical spine. The situation is considered of importance because it emphasizes the need for early recognition and possible intervention in the presence of hypoglossal symptoms. The specific combination of long-standing ankylosing spondylitis and minor trauma is one setting in which a clinician must be alerted. Early consideration of neck immobilization is emphasized.
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PMID:Minor neck trauma in chronic ankylosing spondylitis: a potentially fatal combination. 1741 35

We report a 52-year-old man with slowly progressive dysarthria and dysphagia for about 11 years after radiation therapy of nasopharyngeal carcinoma. Neurological examination revealed atrophy and myokymia on the left side of the tongue and in the left mentalis muscles. Electrical discharges of myokymia and neuromyotonia were also observed in the aforementioned muscles, suggesting increased motor axonal membrane excitability involving the left hypoglossal nerve and the marginal mendibular branch of the left facial nerve. Magnetic resonance imaging of the brain did not show any evidence of tumor recurrence, indicating that irradiation probably plays an important role in pathogenesis. Focal myokymia with concomitant neuromyotonia in unilateral tongue and mentalis muscles could be an unusual delayed manifestation after radiation therapy.
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PMID:Post-irradiation myokymia and neuromyotonia in unilateral tongue and mentalis muscles: report of a case. 1748 31

Neurological paraneoplastic syndromes (NPS) are rare disorders in association with malignancy and the presence of various antineuronal antibodies. The persistence of antineuronal antibodies for years after the eradication of the tumor without clinical manifestations of a NPS has not been reported. In a 64-year-old woman with a history of gynecologic malignancy, treated by surgery and chemotherapy with docetaxel and carboplatin, ptosis, hypertelorism, dysarthria, short stature, upper and lower limb weakness, exaggerated tendon reflexes and recurrent creatine-kinase elevation were found. Nerve conduction studies disclosed polyneuropathy and muscle biopsy nonspecific myopathic features. Though anti-Yo antibodies were repeatedly positive, the clinical findings and polyneuropathy were rather attributed to a suspected metabolic myopathy or chemotherapy than a NPS. Anti-Yo antibodies remained positive at 5 further determinations. During the 5 years of follow up there was improvement of polyneuropathy and no relapse of the malignancy, as assessed clinically, by tumor markers, computed tomography scans and 18-fluorodeoxyglucose positron emission tomography. Anti-Yo antibodies may occur without the typical clinical manifestations of a NPS and may persist for years without the development of a NPS or relapse of the tumor.
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PMID:Asymptomatic persistence of anti-Yo antibodies for 5 years without relapse of malignancy. 1764 47

The cerebellum is important for the coordination of fluent speech. The authors studied how childhood cerebellar tumors affect long-term neuromotor speech outcomes, including the relation between outcome and tumor type, radiation, age at diagnosis, and survival years. Videotaped speech samples of child and adult long-term survivors of childhood cerebellar astrocytoma (nonradiated) and medulloblastoma (radiated) tumors and healthy controls were analyzed by 2 speech pathologists for ataxic dysarthria, dysfluency, and speech rate. Ataxia varied with tumor type/radiation. Medulloblastoma survivors had significantly more ataxic dysarthric features than either survivors of astrocytomas or controls, who did not differ from each other. Dysfluency varied with a history of a posterior fossa tumor. Medulloblastoma and astrocytoma survivors were each significantly more dysfluent than controls but did not differ from each other. Speech rate varied with age and tumor type. Adult controls were significantly faster than child controls, although adult tumor survivors were comparable to their child counterparts. Adult controls had significantly faster speech rates than adult survivors of medulloblastoma tumors. Ataxic dysarthric speech characteristics are more frequent in radiated survivors of medulloblastoma tumors than nonradiated survivors of astrocytoma tumors. Dysfluent and slow speech occur in cerebellar tumor survivors, regardless of tumor type and radiation history. Cerebellar tumors in childhood limit speech rate in adulthood.
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PMID:Long-term neuromotor speech deficits in survivors of childhood posterior fossa tumors: effects of tumor type, radiation, age at diagnosis, and survival years. 1771 77

Diabetes mellitus develops in about 10% of acromegalic patients, usually secondary to insulin resistance caused by growth hormone excess. Diabetic ketoacidosis is a result of relative insulin deficiency and is a rare feature of acromegaly. Here, we present one case of this disorder. A 57-year-old man came to the emergency room due to 2 weeks of dizziness. He also had polyuria, polydipsia, nausea, diplopia, blurred vision and dysarthria. His plasma glucose level was 32.06 mmol/L, plasma osmolarity was 322 mOsm/L, arterial pH was 7.30, level of bicarbonates was 18 mmol/L, urine ketones was 4+, and HbA1c was 14.1%. No specific cause for the development of this metabolic derangement could be found. He displayed clinical features of acromegaly during admission, which was confirmed by an elevated growth hormone level and pituitary macroadenoma shown on magnetic resonance imaging. The patient underwent total transsphenoid tumor removal 2 weeks later; plasma glucose levels became normal thereafter.
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PMID:Diabetic ketoacidosis in a patient with acromegaly. 1790 70

Paragangliomas of the head and neck are uncommon, slow-growing, multicentric and are usually benign. Ever since familial paragangliomas were first described a genetic explanation for their existence has been sought. An international collaboration finally elucidated the SDHB, SDHC and SDHD genes for three paraganglioma syndromes (PGL 4, 3, 1). A familial origin should be suspected if other family members have paraganglioma, paragangliomas are multiple, the patient is young or the patient has a vagal paraganglioma. Once familial disease is suspected the best initial screening method is by genetic testing of the patient in question. If genetic testing detects PGL 1, 3 or 4 mutations then the patient's siblings and children should be tested. All genotypically positive patients should be followed periodically as soon as detected. Surveillance is best performed with periodic radionuclide imaging and by directed magnetic resonance imaging. The purpose of surveillance is early detection and consequently earlier treatment. Abundant evidence exists that the risk of complications from surgical intervention increases with increasing tumor size. If tumors are detected and eradicated before they become large, then younger patients can be spared the dysphagia, dysphonia, dysarthria and stroke that have plagued patients undergoing surgery for these tumors.
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PMID:Screening for familial paragangliomas. 1793 61

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

A case of gliosarcoma composed of glioblastoma and liposarcoma is presented. A 70-year-old Japanese man was admitted to hospital because of dysarthria and aphasia. Magnetic resonance imaging indicated a brain tumor located in the temporal-parietal area of the left hemisphere. He rejected any therapy and died of respiratory failure. At autopsy the tumor was well-demarcated with firm consistency and myxoid appearance, accompanied by necrosis and hemorrhage. Microscopically the tumor consisted of both glial and sarcomatous components, compatible with a gliosarcoma. Lipoblast-like tumor cells were identified in the sarcomatous area. Glial component was observed in the periphery and was diffusely positive for CD56 and S100 protein and focally for glial fibrillary acidic protein. Only a small number of tumor cells in the sarcomatous area expressed neurogenic markers. Lipoblast-like tumor cells were positive for S100 protein but negative for any other neurogenic markers. A significant number of tumor cells were positive for retinoblastoma protein (pRB) in the glial area, whereas only a few of them were positive in the sarcomatous area, indicating alteration of pRB in sarcomatous component. The present tumor is a rare gliosarcoma with liposarcomatous differentiation; alteration of pRB may play a role in sarcomatous transformation of glial component.
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PMID:Immunohistochemistry of gliosarcoma with liposarcomatous differentiation. 1847 20

A 65-year-old man was admitted to our hospital complaining of diplopia, dysarthria, difficulty in walking and progressive dysesthesia that developed in his left hand and leg. Brain MRI revealed high signal intensity regions on T2-weighted and FLAIR images of the hippocampus and the corpus amygdaloideum. After admission, the patient's neurological symptoms progressed to delirium and dementia with hallucinations. When he eventually developed severe respiratory failure requiring ventilatory support, brain MRI revealed new high signal intensity regions on T2-weighted images of the medulla oblongata and pons. Chest CT scans showed a mass under the aortic arch, and based on subsequent histopathological examination of a transesophageal endoscopic ultrasonography-guided fine needle aspiration biopsy of the tumor, a diagnosis of small cell lung cancer was made. In addition, anti-Hu antibody was found in the patient's serum, leading to a diagnosis of paraneoplastic encephalomyelitis/sensory neuropathy. One course of chemotherapy (carboplatin + etoposide) was administered; however, the protocol was not completed because the patient developed severe pneumonia. Given that neurological symptoms usually precede a diagnosis of malignancy in paraneoplastic neurological syndromes, it is important that these are considered carefully, as they may contribute to early diagnosis and treatment. Here we report a rare case of severe central hypoventilation in paraneoplastic encephalomyelitis/sensory neuropathy.
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PMID:[Paraneoplastic neurological syndrome accompanied by severe central hypoventilation and expression of anti-Hu antibody in a patient with small cell lung cancer]. 1851 96


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