Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of primary position downbeating nystagmus due to an occult breast carcinoma in a 57-year-old woman with progressive oscillopsia and truncal ataxia. Acute nausea and vomiting precipitated hospitalization. Magnetic resonance imaging of the brain was normal, though a sterile mononuclear cerebrospinal fluid pleocytosis was present. Search for an occult malignancy disclosed an adenocarcinoma of the breast. Radical mastectomy and oral corticosteroid therapy did not alter the clinical course of the paraneoplastic syndrome in our patient. Primary position downbeating nystagmus is an uncommon manifestation of an occult malignancy. Our report and review of the literature suggests that investigations necessary for the diagnosis of occult malignancies of the lung, breast, uterus, and ovary be included in the search for cryptic causes of downbeating nystagmus.
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PMID:Paraneoplastic downbeating nystagmus. A sign of occult malignancy. 285 13

A case of brainstem encephalitis of undetermined etiology is reported in 66-year-old woman who had a sudden onset of illness with left abducens palsy, nystagmus and ataxia. The symptoms progressed to complete paralysis of eye movements, dysphagia and left hemiparesis with generalized hyperreflexia. Examination of CSF, CT scan and MRI of the brain were normal. The patient died 4 months after onset of disease. Neuropathologic study disclosed in the brainstem numerous perivascular and nodular inflammatory cell infiltrations composed predominantly of lymphocytes T and B. Most intensive inflammation concerned midbrain and pontine tegmentum and to a lesser degree medulla oblongata, pontine nuclei and cerebellar nuclei. Basal ganglia, cerebral and cerebellar cortex were unaffected. Neuropathological finding was reminiscent of brainstem encephalitides related to viral infection or to paraneoplastic syndrome. However, HSV-1, EBV, and CMV antigens were not detected by immunohistochemistry, as well as evidences of malignancy were not present in this case.
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PMID:A case of the subacute brainstem encephalitis. 1007 3

Certain paraneoplastic disorders associated with degeneration of the retina, optic nerve, brainstem, and cerebellum may cause visual loss, impairment of ocular motility, or nystagmus and other saccadic intrusions and oscillations. Most of these remote effects of cancer are probably autoimmune conditions. Many affected patients have circulating antineuronal antibodies that serve to identify the autoimmune nature of their clinical presentation and allow the treating physician to target the evaluation to certain organs likely to be harboring an occult malignancy associated with that particular remote effect. Because patients with paraneoplastic disorders affecting vision and eye movement frequently develop symptoms before their underlying cancer is diagnosed, they will typically seek the assistance of an ophthalmologist first. Recognition that their symptoms or findings reflect a paraneoplastic syndrome may allow the tumor responsible for its presentation to be diagnosed at an earlier stage, which might positively influence the patient's overall prognosis.
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PMID:Paraneoplastic disorders of neuro-ophthalmologic interest. 1016 50

Paraneoplastic cerebellar degeneration (PCD) is a type of paraneoplastic syndrome that primarily affects women with gynecological cancers. Patients typically experience pancerebellar symptoms, including gait ataxia, dysarthria, nystagmus, and truncal and appendicular ataxia. We present the case of a 50-year-old woman with PCD and presumed ovarian cancer who initially complained of ataxia and dysarthria. PCD was diagnosed on the basis of her symptoms, diagnostic imaging, and laboratory work. PCD symptoms may precede the diagnosis of malignancy by months or years. Early diagnosis and treatment of these syndromes, including rehabilitation, may result in improvements in quality of life for this population of patients.
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PMID:Paraneoplastic cerebellar degeneration as the first manifestation of cancer. 1144 49

In case a pre-senile patient presented subacutely progressive dementia, secondary dementia, such as paraneoplastic neurological syndrome (PNS), hypothyroidism, confusion, early phase of primary degenerative dementia and prion diseases are to be considered. It is a case of pathologically confirmed, and clinico-pathologically assessed limbic encephalitis with cerebellar degeneration. The patient was a 63-year old male, with a well followed up medical history of gastric cancer 8 years earlier. Four weeks after he presented himself at our hospital his memory and disorientation progressively declined. A neurological examination revealed gaze nystagmus, with potential secondary dementia. However, no abnormal findings were detected from systemic radiological examination, or from chemical analyses. Two months later, after the onset of the disease, he presented additional symptoms, including seizure, gait disturbance, and insomnia. On admission, neurological examinations revealed gaze nystagmus and progression of dementia; however, his thought process was relatively preserved. No paroxysmal synchronized discharge was seen on electroencephalogram. Chest X-rays showed an inflammatory infiltration. In spite of anti-biotic medication, he died due to respiratory failure. The autopsy was limited to the brain. Histologically, limited lymphocytic infiltration into the hippocampus through the entorhinal cortex, with marked neuronal loss and gliosis was observed. Neuronophagia, microglial nodules, and perivascular lymphocytic infiltration were also seen. Additionally, most of the Purkinje cells in the cerebellum were lost, with Bergmann's gliosis and sparse lymphocytic infiltration. No tumor was observed in the brain. Pathological findings of the brain were compatible with paraneoplastic limbic encephalitis and cerebellar degeneration, though no neoplasm, clinically or pathologically, was detected in this patient. Consequently, it is suggested that when a senile patient presents sub-acute onset of progressive dementia, with a variety of neurological symptoms, paraneoplastic syndrome is to be taken into consideration, even if a tumor or an auto-antibody is not detected since the resection of the tumor is still the best therapeutic means. Otherwise immuno-suppressive and steroid therapies should be used.
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PMID:A pre-senile case of limbic encephalitis and cerebellar degeneration, with subacute onset of progressive dementia. 1567 63

Acute cerebellar ataxia (ACA) in childhood following viral infection is a self-limited disease. We present a boy with recurrent episodes of paraneoplastic cerebellar ataxia associated with a ganglioneuroma. A 20-month-old boy developed the first episode of cerebellar ataxia after nonspecific respiratory tract infections. During this episode he showed a wide gait and truncal ataxia with intention tremor and horizontal nystagmus. Our initial diagnosis was ACA, and gradual improvement of ataxia was observed thereafter. At 2 years and 6 months, similar cerebellar symptoms recurred after respiratory tract infections. Speech difficulty and cognitive problems developed thereafter. We suspected paraneoplastic syndrome. Computed tomography revealed a retroperitoneal tumor, and autoantibodies against GluR epsilon 2 were detected in the cerebrospinal fluid. After the tumor resection, the cerebellar symptoms did not recur and speech difficulty and cognitive problems improved gradually. Recent neuroimaging and neuropsychological studies have revealed that cerebellar function contributes to higher brain functions including cognition and learning. We will follow up this patient's long-term cognitive function and consider special educational support and programs.
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PMID:[A case of recurrent paraneoplastic cerebellar ataxia with antibodies to GluR epsilon 2 causally related to ganglioneuroma]. 2066 37

Paraneoplastic syndromes affecting the brainstem and cerebellum are reported to cause a variety of abnormalities of eye movements. Recent studies have begun to account for the mechanisms underlying several syndromes, characterized by opsoclonus, slow, or dysmetric saccades, as well as downbeat nystagmus. We provide evidence that upbeat nystagmus in a female patient with pancreatic cancer reflected a cerebellar-induced imbalance of otolithic pathways: she showed marked retropulsion, and her nystagmus was dependent on head position, being absent when supine, and suppressed with convergence. In addition to anti-Hu antibodies, we demonstrated antibodies to a novel neuronal cell surface antigen. Taken with other recent studies, our findings suggest that paraneoplastic syndromes arise due to antibodies against surface neuronal antigens, including receptors and channels. Abnormal eye movements in paraneoplastic syndromes offer insights into the pathogenesis of these disorders and the opportunity to test potential therapies, such as new drugs with effects on neuronal channels.
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PMID:Paraneoplastic disorders of eye movements. 2195 Oct 5

Paraneoplastic cerebellar degeneration associated with anti-Ri antibodies mainly presents with opsoclonus-myoclonus-ataxia. We report here the case of a patient with anti-Ri-antibody paraneoplastic syndrome, who presented four years after treatment for small-cell lung cancer (SCLC) with oscillopsia and gait disorder. On neurological examination vertical nystagmus, ataxic gait and postural tremor of all four limbs was detected. He died one year after the onset of the symptoms because of a acute exacerbation of his severe chronic obstructive pulmonary disease. No SCLC relapse or new cancer has been detected during the one-year follow-up period.To our knowledge, our patient is the first case of anti-Ri associated disorder with oscillopsia and vertical nystagmus as the initially prominent clinical features. The findings of this case study support the variability of anti-Ri-antibody-associated paraneoplastic syndrome. Further studies must be directed to better characterize the mechanisms underlying this syndrome. Finally, paraneoplastic neurological syndromes should be kept in mind also when a neoplastic disease is not demonstrated.
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PMID:Anti-Ri-associated paraneoplastic cerebellar degeneration. Report of a case and revision of the literature. 2202 93

Paraneoplastic cerebellar degeneration (PCD) is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA). Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome. The patient was treated with neoadjuvant chemotherapy, modified radical mastectomy, adjuvant Herceptin, and pertuzumab. She was given IVIG for paraneoplastic syndrome, antidepressants, and dextromethorphan-quinidine (Nuedexta), the first FDA-approved therapy for PBA. With multimodality therapy, she demonstrated significant improvement in neurologic and mood symptoms associated with PCD and PBA.
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PMID:Anti-Yo Mediated Paraneoplastic Cerebellar Degeneration Associated with Pseudobulbar Affect in a Patient with Breast Cancer. 2837 27

A 54-year-old woman with adenocarcinoma of the lung and lymph node metastasis experienced nystagmus and cerebellar ataxia 2 weeks after initiating nivolumab therapy. An evaluation for several autoimmune-related antibodies and paraneoplastic syndrome yielded negative results. We eventually diagnosed the patient with nivolumab-induced acute cerebellar ataxia, after excluding other potential conditions. Her ataxic gait and nystagmus resolved shortly after intravenous steroid pulse therapy followed by the administration of decreasing doses of oral steroids. Nivolumab, an immune checkpoint inhibitor, is known to induce various neurological adverse events. However, this is the first report of acute cerebellar ataxia associated with nivolumab treatment.
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PMID:Acute Cerebellar Ataxia Induced by Nivolumab. 2924 65


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