Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 39-year-old man (a lifetime non-smoker) presented with a locked left jaw and leg myoclonus. Clinical and electromyographic findings were in keeping with progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome. A thoracic CT scan demonstrated a 19 mm right hilar nodule, which was proven to be small cell lung cancer on bronchoscopic biopsy. Serological evaluation of the patient's plasma revealed antibodies against glycine receptors (serology negative for anti-GAD, anti-Yo, anti-Hu, anti-Ri, antiamphiphysin, anti-Ma2/Ta, anti-CRMP5 and anti-NMDA receptor). After his cancer was treated with chemotherapy and intravenous immunoglobulins (IVIg), neurological symptoms resolved but returned several months later without any evidence of cancer recurrence. Symptoms were refractory to corticosteroids and IVIg therapy. Rituximab was then initiated, which led to a dramatic and sustained resolution of symptoms. To our knowledge, this is the first case of PERM related to antiglycine receptor antibodies from paraneoplastic syndrome, which resolved with rituximab.
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PMID:Antiglycine receptor antibody and encephalomyelitis with rigidity and myoclonus (PERM) related to small cell lung cancer. 2381 17

Neuroblastoma associated with the paraneoplastic syndrome of opsoclonus-myoclonus is well-described. However, presentation with narcolepsy-cataplexy is not well-documented in the literature. Narcolepsy with cataplexy is also rare in children younger than 5 years of age. Here we describe three patients, each presenting in early childhood with complex neurological symptoms including narcolepsy with cataplexy that were subsequently found to have paraspinal neuroblastoma. In two of the cases, neurological symptoms resolved with treatment of the tumor and/or immunosuppression, but in one case, the child persistently had a devastating course despite complete resection of the tumor and aggressive immunosuppression.
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PMID:Narcolepsy with cataplexy as presenting symptom of occult neuroblastoma. 2382 30

Opsoclonus myoclonus syndrome (dancing eye syndrome) is a rare paraneoplastic syndrome characterized by opsoclonus, myoclonus, and ataxia, usually accompanied by behavioral abnormalities. In adults, opsoclonus myoclonus syndrome has been reported in association with different types of cancer; whereas in children, the syndrome may be associated with neuroblastic tumors. Although a direct proof is lacking, the syndrome is assumed to be of autoimmune origin. The treatment is corticosteroid based with the addition of other immunosuppressive or immunomodulating drugs if intensification seems necessary. Because of the rarity of the disease, international collaborations as well on research as on therapeutic strategies are urgently needed. A European consortium just started a trial for this rare condition.
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PMID:Update on pediatric opsoclonus myoclonus syndrome. 2420 54

Opsoclonus Myoclonus (OMS) is a rare neurological disorder which appears to be the result of an autoimmune dysfunction. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people every year. It affects 2 to 3% of children. Opsoclonus Myoclonus, which manifests itself as post infectious encephalopathy, occasionally along with HIV infection, post Streptococcal infection, West Nile virus encephalitis and Rickettsial infection, most often presents as a paraneoplastic syndrome, which is especially caused by occult neuroblastoma which is commonly seen in childhood and occurs in adults in relation to breast cancer and small cell lung cancer. In this study, two adult post infectious cases which had rare manifestations, have been presented. The cases were managed by using corticosteroids.
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PMID:Dancing eyes dancing feet syndrome-a report of two cases. 2499 4

Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of sinonasal tract, derived from olfactory epithelium. Unilateral nasal obstruction, epistaxis, sinusitis, and headaches are common symptoms. Olfactory neuroblastoma shows neuroendocrine differentiation and similarly to other neuroendocrine tumors can produce several types of peptic substances and hormones. Excess production of these substances can be responsible for different types of endocrinological paraneoplastic syndromes (PNS). Moreover, besides endocrinological, in ONB may also occur neurological PNS, caused by immune cross-reactivity between tumor and normal host tissues in the nervous system. Paraneoplastic syndromes in ONB include: syndrome of inappropriate ADH secretion (SIADH), ectopic ACTH syndrome (EAS), humoral hypercalcemia of malignancy (HHM), hypertension due to catecholamine secretion by tumor, opsoclonus-myoclonus-ataxia (OMA) and paraneoplastic cerebellar degeneration. Paraneoplastic syndromes in ONB tend to have atypical features, therefore diagnosis may be difficult. In this review, we described initial symptoms, patterns of presentation, treatment and outcome of paraneoplastic syndromes in ONB, reported in the literature.
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PMID:Paraneoplastic syndromes in olfactory neuroblastoma. 2619 64

Paediatric opsoclonus-myoclonus syndrome (OMS) is in 50% of the cases associated with a neuroblastoma as a paraneoplastic syndrome and is associated with surface-binding antibodies against cerebellar granular neurons (CGN). To evaluate possible pathogenic effects of these autoantibodies on CGN we examined their influence on the MAPKinase enzymes ERK-1/2 and p38 using flow cytometry and phospho-specific antibodies. OMS IgG but not IgG from neuroblastoma without OMS or healthy controls induced phosphorylation of ERK-1/2 in cerebellar granular neurons (p<0.01). No effect on p38 phosphorylation or on HEK293 control cell line could be detected. IgG-mediated phosphorylation of ERK-1/2 was associated with an increased cytotoxicity of CGN, which could be blocked by ERK-1/2 pathway inhibitor U0126. We here show that IgG-mediated anti-neuronal cytotoxicity in OMS is mediated by ERK-1/2 phosphorylation in CGN.
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PMID:Autoantibody-mediated cytotoxicity in paediatric opsoclonus-myoclonus syndrome is dependent on ERK-1/2 phophorylation. 2661 89

Breast cancer is the most frequent cause of cancer of women in much of the world. In countries with screening programs, breast cancer is often detected before clinical symptoms are apparent, but occasionally the occurrence of a paraneoplastic syndrome precedes the identification of cancer. In breast cancer, there are known to be paraneoplastic endocrine syndromes and neurologic syndromes. The neurologic syndromes are often hard to identify and treat. The neurologic syndromes associated with breast cancer include cerebellar degeneration, sensorimotor neuropathy, retinopathy, stiff-persons syndrome, encephalitis, and opsoclonus-myoclonus. Most of these are mediated by antibodies against known neural antigens, although some cases appear to be mediated by non-humoral mechanisms. Treatments differ depending upon the syndrome type and etiology. Outcomes also vary depending upon duration of disease, the treatments used and the responsiveness of the underlying cancer. A thorough review of the published literature is provided along with recommendations for management and future research.
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PMID:Paraneoplastic neurological complications of breast cancer. 2780 Feb 87

The diagnosis of neuroblastoma is sometimes preceded by development of a paraneoplastic syndrome, most commonly opsoclonus-myoclonus-ataxia (OMA). The authors describe a patient who developed a hyperexcitable blink reflex, without symptoms of OMA, prior to his oncologic diagnosis. The authors believe this may represent a distinct paraneoplastic process caused by increased dopaminergic stimulation of the blink reflex and suggest that children manifesting an unexplained hyperexcitable blink reflex should be screened for occult neuroblastoma.
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PMID:Hyperexcitable Blink Reflex Preceding the Diagnosis of Neuroblastoma. 2781 9

Kinsbourne syndrome is a rare neurological paraneoplastic syndrome associated with neuroblastic tumors. There are very few literatures on its anesthetic management and interaction with anesthetic agents. The epileptogenic potential of certain anesthetic agents such as ketamine, etomidate, and meperidine might trigger opsoclonus and myoclonus and have an impact on the long-term neurological outcome. The objective of this case report is to discuss the safety of anesthetic agents and their relationship in a patient with Kinsbourne syndrome. We discuss our experience in the anesthetic management of a child with Kinsbourne syndrome with ganglioneuroblastoma in the thoracic paravertebral space.
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PMID:Anesthesia in a child with Kinsbourne syndrome: Does anesthesia technique matters? 2783 99

Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation. Paraneoplastic neurological syndromes with ophthalmologic involvement include optic neuropathy, opsoclonus-myoclonus, Eaton-Lambert myasthenic syndrome, paraneoplastic cerebellar degeneration (PCD) and rhombencephalitis.
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PMID:Paraneoplastic syndromes in ophthalmology. 2978 39


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