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 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.
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PMID:Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2. 1051 81

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

Paraneoplastic syndromes are defined as clinical syndromes that are not related to direct tumor invasion or compression but are secondary to tumor secretion of functional peptides/hormones or related to immune cross-reactivity with normal host tissue. Paraneoplastic syndromes have a wide range of presentations and can present before the primary malignancy or tumor recurrence is diagnosed. They can mimic non-neoplastic processes, making detection, diagnosis and treatment difficult. However, they can also provide clues to the presence of an underlying malignancy. In this paper, we reviewed a range of paraneoplastic syndromes that can occur in children including: (1) neurologic (opsoclonus-myoclonus, limbic, anti-N-methyl-d-aspartate [NMDA] and anti-Ma2 encephalitis and myasthenia gravis); (2) endocrine (neuroendocrine tumors, hypercalcemia, SIADH [syndrome of inappropriate antidiuretic hormone secretion], osteomalacia/rickets and ROHHAD [rapid onset of obesity, hypoventilation, hypothalamic dysfunction and autonomic dysregulation]); and (3) dermatologic/rheumatologic syndromes (hypertrophic osteoarthropathy and paraneoplastic pemphigus). Familiarity with these syndromes can aid in early diagnosis, treatment and imaging optimization.
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PMID:Review of paraneoplastic syndromes in children. 3087 39