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)

Neuroblastoma originates in the adrenal medulla or anywhere in the body that sympathetic tissue normally is present. It may present with a variety of symptoms due to primary tumor, metastatic disease, or unusual signs and symptoms such as opsoclonus-myoclonus or severe diarrhea. Despite the fact that this neoplasm responds to a variety of therapeutic modalities, it remains one of the most frustrating and difficult childhood tumors to treat and cure.
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PMID:Neuroblastoma. 388 4

Neuroblastoma is one of the commonest childhood malignancies. The most important prognostic factor is age at diagnosis; early diagnosis, when the tumor is still localized and surgically resectable, is second in importance. On retrospective review of children seen at the Hospital for Sick Children, ophthalmic involvement was seen in 80 of 405 (20%). The three major eye signs of neuroblastoma, proptosis, Horner's syndrome and opsoclonus, are closely related to the site, stage of tumor, and outcome of the patient. Proptosis or periorbital ecchymosis due to orbital metastases was present in 60 of 80 children (bilaterally in 33). The 3-year survival rate was 11.2%. In 53 of 60 cases with orbital metastases the neuroblastoma originated in the abdomen. Unilateral Horner's syndrome occurred in 14 children, as the presenting sign in 9, related to localized disease in 11 and in a favorable location (cervical or thoracic neuroblastoma) in 8. The 3-year survival rate was 78.6%. Opsoclonus-myoclonus was the presenting sign of occult, localized neuroblastoma in all 9 children in whom it occurred. The 3-year survival rate was 100%. For all presentations, girls had a significantly better survival rate than boys (48.7% vs. 22.4%). Children presenting with any of these ophthalmological signs should undergo thorough and repeated investigations searching for neuroblastoma.
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PMID:Ocular involvement in neuroblastoma: prognostic implications. 649 2

Neuroblastoma is one of the most frequent solid tumors in childhood, rarely recurrent after five years from diagnosis. Cytomegalovirus (CMV), a major pathogen causing congenital birth defects and severe opportunistic diseases, has been shown to have teratogenic, immunodepressive and oncogenic properties. The case of a girl with stage 4S neuroblastoma diagnosed at three months and relapsed as stage 4 five years later is reported. In both circumstances, active CMV infection was revealed by positive CMV-specific IgM and IgA antibodies, CMV-DNAemia and CMV culture. At three months, the patient presented with subcutaneous nodules, hepatosplenomegaly and increased aminotransferase levels, and the opsolonus-myoclonus syndrome. Mental retardation developed later on. At 5 years, relapsed neuroblastoma was preceded by a mononucleosis-like syndrome concomitant with active CMV infection and decreased levels of immune cells and natural killer activity. Clinical, virologic, and immunologic findings suggest an immune-mediated pathogenic role for CMV in this tumor.
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PMID:Cytomegalovirus-associated stage 4S neuroblastoma relapsed stage 4. 783 43

Neuroblastoma is one of the most intensely studied solid malignancies that affect the pediatric age groups; its clinical presentation, treatment strategies and ultimate prognosis vary greatly. The biologic and genetic character of each tumor has an important impact on disease behavior, and clinical staging now incorporates these factors to generate an overall therapy plan. The clinical presentation of neuroblastoma is related to primary tumor location, production of metabolically active substances, and the presence of metastatic disease. There are also prognostically important associated syndromes including opsoclonus-myoclonus, Horner's syndrome, neurofibromatosis, and a variety of other neurocristopathies. The histologic features of the tumor are of prognostic significance and are utilized in treatment stratification. The International Neuroblastoma Staging System (INSS) has unified classic clinical staging. Features at diagnosis and those determined by initial operation are combined with biologic prognostic factors to achieve risk group assignment for virtually all patients. There are groups of children in which limited therapy is curative and intermediate-risk situations where standard multimodality treatment provides favorable outcomes. Unfortunately, there are many patients with high-risk disease that require intensive strategies, but success is still limited. It is in these most resistant patients that innovative approaches are being undertaken and novel strategies are being investigated.
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PMID:Current aspects of biology, risk assessment, and treatment of neuroblastoma. 998 66

The aim of this study was to investigate the histological, immunohistochemical and molecular features of a series of children with neuroblastic tumors (NTs) and opsoclonus-myoclonus syndrome (OMS). Of 1187 children (age 0-15 years) with previously untreated NTs registered between 1979 and 1995, 15 (1.3%) had OMS at presentation. The majority of patients showed favorable biological characteristics, such as lack of amplification of the neuroblastoma-associated avian myelocytomatosis homolog MYCN oncogene and aneuploid nuclear DNA content. Tumor histology was reviewed according to the International Neuroblastoma Pathology Classification. Histology of the 15 cases of NTs with OMS was ganglioneuroblastoma, intermixed, in 10 patients; ganglioneuroma, maturing, in 1; and neuroblastoma in 4. Of 15 tumors, 12 (10 ganglioneuroblastomas, 2 neuroblastomas) showed abundant interstitial or perivascular lymphoid infiltrates, the latter often organized in secondary lymphoid follicles. The three remaining cases had only minimal infiltrates. A review of 91 cases of age- and stage-matched neuroblastic tumors not associated with OMS tested as controls showed that the degree of lymphoid infiltration was significantly lower than that detected in OMS-related tumors. Furthermore, lymphoid follicles were always present in the latter tumors, whereas they were detected only in a few ganglioneuroma, intermixed tumors from the control group. In conclusion, ganglioneuroblastoma, intermixed subtype, lack of MYCN amplification, aneuploid DNA content and presence of lymphoid infiltrates may contribute to favorable prognosis in NTs associated with OMS.
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PMID:Neuroblastic tumors associated with opsoclonus-myoclonus syndrome: histological, immunohistochemical and molecular features of 15 Italian cases. 1270 98

Neuroblastoma (NBL) is one of the most common childhood malignancies. Presence of untypical symptoms is characteristic for this malignancy; therefore it may mimic many other illnesses, both malignant and nonmalignant. Particular attention should be focused on opsoclonus-myoclonus syndrome (OMS, Kinsbourne's syndrome). In this paper three children with NBL previously diagnosed with OMS are presented. There is a need to test children with OMS for NBL as more than 30% of them are diagnosed with a tumor of neural origin. Children with NBL suffering from OMS have usually a favorable outcome with respect to their malignancy. However, the neurological and cognitive deficits are present for a long time and even they may become more intensive in spite of immunosuppressive therapy.
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PMID:[Opsoclonus-myoclonus syndrome in children with neuroblastoma: description of 3 cases]. 2134 75

Neuroblastoma is the most common extracranial solid tumor in childhood. Its presenting signs and symptoms may be highly variable, depending on the location of the primary tumor and its local or metastatic diffusion and, rarely, with paraneoplastic syndrome such as opsoclonus-myoclonus-ataxia syndrome and gastrointestinal disturbances, due to autoantibodies or to aberrant secretion of vasoactive intestinal peptide. Herein we describe a 10-month-old child with neuroblastoma presenting with a complex clinical picture characterized by acute kidney injury manifested by renal insufficiency and signs and symptoms of tubulointerstitial damage, with polyuria, polydipsia, glucosuria, aminoaciduria and hypochloremic metabolic alkalosis, and of glomerular damage with heavy proteinuria. Imaging study documented a suprarenal mass enveloping the aorta and its abdominal and renal ramifications and bilaterally renal veins. This clinical picture shows some analogies with the hyponatremic-hypertensive syndrome concerning the renovascular disease; however, in absence of systemic arterial hypertension, the heavy proteinuria and the polyuria could be explained by sectional increased intraglomerular pressure, due to local renal blood vessels constriction. Hypochloremic metabolic alkalosis probably developed because of local production of renin, responsible of renin-angiotensin-aldosterone system activation, but above all because of chloride loss through sweating. The long lasting dehydration, due to vomiting, sweating and polyuria, caused prolonged prerenal failure evolving in proximal tubular damage manifestations.
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PMID:Neuroblastoma presenting with acute kidney injury, hyponatremic-hypertensive-like syndrome and nephrotic proteinuria in a 10-month-old child. 2194 89

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

Neuroblastoma is a childhood cancer derived from cells of neural crest origin. The hallmarks of its enigmatic character include its propensity for spontaneous regression under some circumstances and its association with paraneoplastic opsoclonus, myoclonus, and ataxia. The neurodevelopmental underpinnings of its origins may provide important clues for development of novel therapeutic and preventive agents for this frequently fatal malignancy and for the associated paraneoplastic syndromes. Ann Neurol 2016;80:13-23.
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PMID:The "neuro" of neuroblastoma: Neuroblastoma as a neurodevelopmental disorder. 2704 43

Cognitive and acquired neurodevelopmental deficits have been reported in children with opsoclonus-myoclonus syndrome (OMS) and are known to be associated with more severe and relapsing disease course. However, there is a paucity of data regarding cognitive dysfunction in children with stable neurological disease. We report three children with OMS and evolving cognitive dysfunction in the context of a mild disease course. The children's ages at disease onset were between 17 and 35 months and they were followed up for 4-10 years. Neuroblastoma was identified in one child. OMS severity scores ranged between 8 and 12/15 at presentation. They underwent immunotherapy and all were in remission by 7 months (range 4-13 months), with treatment maintained for 1 year. One child remained relapse-free, while two others had one clinical relapse each and were immunotherapy-responsive again. In all cases, evolving cognitive dysfunction was reported despite being in remission and stable off treatment for a median of 20 months (range of 12-31 months; two OMS scores of 0/15 and one of 2/15). In children with OMS who have completed treatment and have made full or near full neurological recovery, concerns remain regarding long-term outcome in terms of future learning and cognitive development.
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PMID:Evolving Cognitive Dysfunction in Children with Neurologically Stable Opsoclonus-Myoclonus Syndrome. 3282 25


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