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At least 19 recordsLinked to original sources
PubMed1992

The neurobiology of the opsoclonus-myoclonus syndrome.

Opsoclonus-myoclonus is a pervasive neurological syndrome of children and adults. Although rare, it raises important clinical and neurobiological issues. This article provides an overview of the clinical and laboratory features, differential diagnosis, treatment, and outcome of opsoclonus-myoclonus. It pursues immunologic, genetic, electrophysiologic, neurochemical, and other clues to a pharmacologic model. Key questions include how and where the brain is injured, reversibility of the injury, possible targets for pharmacologic intervention, and which new studies are needed.

Eye Movements↗
PubMed1988

Pontine lesion in opsoclonus-myoclonus syndrome shown by MRI.

Two patients with opsoclonus-myoclonus syndrome are reported whose magnetic resonance imaging (MRI) showed brain stem lesions. Both patients developed the opsoclonus-myoclonus syndrome after an upper respiratory illness. One case had visual hallucinations during the course of illness and MRI revealed a focal lesion in the pons involving the junction of basis and tegmentum. MRI of the second case showed a focal lesion at the upper pontine tegmentum.

Adult↗
PubMed1989

Opsoclonus-myoclonus syndrome: correlation of radiographic and pathological observations.

We report a case of a child with opsoclonus-myoclonus syndrome. Neuroradiological studies indicated a lesion in the cerebellar vermis. A cerebellar biopsy revealed changes consisting of Purkinje and granular cell loss with gliosis. This case report documents the correlation of radiologic and pathological findings in a patient with opsoclonus-myoclonus syndrome.

Biopsy↗
PubMedDate not supplied

Opsoclonus-myoclonus syndrome with abnormal magnetic resonance imaging and brainstem auditory evoked potentials.

We describe two patients in encephalitis with opsoclonus-myoclonus syndrome. Cranial magnetic resonance imaging demonstrated an area of hyperintensity on the T2-weighted images in the left tegmentum at the pons level (case 1) and in the left tegmentum and partly basis at the upper pons level (case 2), respectively. On the other hand, brainstem auditory evoked potentials following left monaural stimulation and ipsilateral records revealed a delay of IIIrd wave latency and prolongation of I-III interpeak latencies (case 1). From these findings we suggest that the locus of the lesion of opsoclonus-myoclonus syndrome may partly exist in the brainstem (pontine tegmentum).

Adult↗
PubMed1992

Myasthenia gravis in a child with sequelae of opsoclonus-myoclonus syndrome.

Immune-mediated myasthenia gravis occurred in a 13-month-old girl who had sequelae of an opsoclonus-myoclonus syndrome. She had an abnormal Raji cell assay along with elevated antiacetylcholine receptor and antithyroglobulin antibodies. No evidence of an associated malignancy was found with either condition. Clearly, the co-occurrence of two diseases within a single patient does not establish a common pathogenesis. Nevertheless, this is a provocative association and may point to an immunologically mediated process in the opsoclonus-myoclonus syndrome.

Female↗
PubMed1988

Single copies of the N-myc oncogene in neuroblastomas from children presenting with the syndrome of opsoclonus-myoclonus.

Patients with neuroblastoma who present with the syndrome of opsoclonus and myoclonus enjoy a remarkably good prognosis independent of their stage of disease or their age at diagnosis. The presence of N-myc amplification also has been found to be an independent prognostic factor in neuroblastoma. Patients with multicopy N-myc tumors have rapid tumor progression whereas those with single-copy tumors have a significantly better progression-free survival. The authors examined four primary, untreated neuroblastomas for the N-myc copy number from patients who presented with opsoclonus and myoclonus. All four tumors had single copies of N-myc, and all four patients are alive with no evidence of recurrent disease with 6+ to 54+ months' follow-up. This appears to be the only report of N-myc analysis in this group of children. It would be interesting to analyze more neuroblastomas from patients who present with opsoclonus and myoclonus to determine how many of these patients have single N-myc copy tumors.

Child, Preschool↗
PubMed1983

Syndrome of opsoclonus-myoclonus caused by Coxsackie B3 infection.

Coxsackie B3 was cultured from 2 children who presented within two weeks of each other from the Cape Cod, Massachusetts, area showing opsoclonus and myoclonus. The organism was recovered from the cerebrospinal fluid of 1 patient and from the stools of both. Both children had cerebrospinal fluid pleocytosis and gradual, spontaneous resolution of their symptoms.

Cerebrospinal Fluid↗
PubMed1992

"Isolated" postinfectious myoclonus.

Two cases are reported who developed myoclonus as the only manifestation of a post-infectious syndrome without evidence of encephalitis or the opsoclonus-myoclonus syndrome. Case 1 had generalised myoclonus following an influenza-like illness, while case 2 had right upper limb segmental myoclonus following uncomplicated chicken pox. Neither had any localising neurological signs or abnormality on investigation. Both recovered completely within six months of the onset. Similar cases are reviewed from the literature and it is suggested that such cases be called "isolated" post-infectious myoclonus.

Adolescent↗
PubMedDate not supplied

Opsoclonus-myoclonus with Beckwith-Wiedemann syndrome and hepatoblastoma.

The association between Beckwith-Wiedemann syndrome and hepatoblastoma is well established and relatively commonplace. The occurrence of opsoclonus-myoclonus syndrome in individuals with occult neoplasia is also well documented. However, the development of opsoclonus-myoclonus syndrome in an infant with Beckwith-Wiedemann syndrome and hepatoblastoma has not been reported previously. The list of underlying causes of opsoclonus-myoclonus syndrome should be expanded to include hepatoblastoma, particularly in any child with features suggestive of Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann Syndrome↗
PubMed1986

Paraneoplastic opsoclonus-myoclonus. Association with medullary thyroid carcinoma and review of the literature.

The syndrome of opsoclonus-myoclonus (OM) is an infrequent but well-known "remote effect" of neuroblastoma in children. The OM syndrome is even less frequent in adults. A few cases of adult paraneoplastic OM have been described in association with several systemic neoplasms. We report the unique case of a 29-year-old man with metastatic medullary thyroid carcinoma in whom OM developed as part of a generalized transient encephalopathy. We outline the postulated anatomic lesions and pathophysiologic mechanisms underlying the OM syndrome, as well as examine the possible connections between the neuroendocrine derivation of medullary thyroid carcinoma and the neurotoxic and/or autoimmune theories of the causation of the OM syndrome in patients with systemic neoplasms.

Adult↗
PubMed2025

Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.

BACKGROUND: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, with involuntary rapid saccadic conjugate eye movements as one of characteristics, primarily affecting the cerebellum. While the exact pathogenesis remains unclear, genetic and autoimmune factors have been suggested to contribute to its development. METHODS: We enrolled patients diagnosed with OMAS before the age of 18 years at a pediatric neuroimmunology clinic in Boston, United States, using the 2004 Genoa Criteria. Whole genome sequencing was conducted for the patients and their biological parents in all cases, with one case including an unaffected twin sibling. RESULTS: De novo germline variants (DNVs) in probands were identified and validated and analyses of structural variants, recessive variants in neuroimmune-associated genes, and high-resolution human leukocyte antigen (HLA) typing were performed. Our study included 42 patients, 23 of whom had neuroblastoma. We found 12 confirmed DNVs in protein-coding regions in nine patients (29.0% of 31 from 30 trios and 1 quartet). Ten patients (23.8% of 42) had rare homozygous or compound heterozygous variants known to alter protein function, affecting 11 genes. Notably, the major histocompatibility complex, class II, DR beta 1 (HLA-DRB1) &#x2217;01 allele was observed in 27 out of 84 (32.1%) alleles in the patients, significantly higher than that in the general population (chi-square test, P < 0.0001). In one case, a potential genetic modifier of OMAS with severe cerebellar atrophy was identified, associated with a protein-truncating DNV in the CACNA2D2 gene. CONCLUSIONS: This first genome sequencing study reveals potential genetic contributors to OMAS, implicating polygenic predisposition-with HLA-DRB1&#x2217;01 as a possible factor-combined with nongenetic risk factors like neuroblastoma.

Humans↗
PubMed1989

The remote effects of cancer on the nervous system.

Paraneoplastic syndromes are heterogeneous in their clinical presentations and their associations with particular tumor types and are an important part of the differential diagnosis of neurologic dysfunction in patients with or without a known neoplasm. Patients presenting with one of the more distinctive syndromes, such as subacute cerebellar degeneration, opsoclonus-myoclonus, and the Lambert-Eaton syndrome, should undergo a careful evaluation for the presence of an occult malignancy. The importance of looking for a monoclonal gammopathy in patients with certain polyneuropathies and motor neuron syndromes is also becoming clear. At this time, an autoimmune pathogenesis has been clearly demonstrated only for the Lambert-Eaton syndrome. Specific autoantibodies in other syndromes appear to be valuable diagnostic markers for the presence of an underlying malignancy, but the actual role of these antibodies in producing tissue damage and clinical disease is still unknown.

Brain Diseases↗
PubMed1992

[Autoimmune paraneoplastic neurological syndromes].

Paraneoplastic neurological syndromes are well established causes of neurological dysfunction in cancer patients. Recently an auto-immune origin has been found for the Lambert-Eaton myasthenic syndrome, the subacute sensory neuronopathy of Denny-Brown, the paraneoplastic cerebellar degeneration, the paraneoplastic opsoclonus-myoclonus as well as a few other minor syndromes. Indeed patients suffering from these diseases have been found to produce antibodies directed against the central nervous system. These antibodies can be detected as much as a year before the cancer is found and they are therefore interesting for neurological and oncologic diagnosis.

Autoimmune Diseases↗
PubMed1992

Nervous system dysfunction in children with paraneoplastic syndromes.

Paraneoplastic syndromes are complexes of symptoms and signs that occur in association with cancer and that are unexplained by the known anatomic and physiologic characteristics of the tumor. Many of these syndromes are neurologic in nature or have consequences for the central or peripheral nervous system. These syndromes have been well characterized in adults. With the exception of opsoclonus-myoclonus, little has been written about the occurrence of such syndromes in children. This review looks at published reports of paraneoplastic syndromes in children and concludes that paraneoplastic syndromes in childhood differ from those seen in adulthood because of differences in both the host and the kinds of neoplasms most prevalent in each age group. Paraneoplastic syndromes may be underreported in childhood because of the difficulty in eliciting specific neurologic complaints from children and because a thorough neurologic examination is often not undertaken as a matter of routine.

Child↗
PubMed1987

Anti-neurofilament protein antibodies in opsoclonus-myoclonus.

Opsoclonus-myoclonus (OM) is a neurological disorder usually occurring in infancy, clinically manifested by various involuntary movements. The pathogenesis of OM is unknown, but since the disease often is associated with viral infection or with neuroblastoma, an immunologic basis for OM has been postulated. We have studied two children with OM whose serum contained antibodies directed against the 210 kDa neurofilament protein; these antibodies were not seen in the serum of 21 children with other neurological disorders. Neurofilament proteins, which are found only in neurons, may be of prime importance in neuronal function, especially during development of the nervous system. Our findings suggest that generation of antibodies to the neurofilament proteins can occur in patients with opsoclonus-myoclonus; the role of the anti-NF210K antibodies in the pathogenesis of OM, however, is uncertain.

Autoantibodies↗