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)

Whipple's disease of the central nervous system (CNS) may be associated with normal intestinal histology as a result of minimal or patchy involvement. The diagnosis is difficult and is frequently made post mortem. We studied 6 patients with clinically suspected CNS Whipple's disease; 2 had oculomasticatury myorhythmia (OMM) fitting criteria for a diagnosis of definite CNS Whipple's disease. One of the 2 had duodenal histology highly suggestive of Whipple's disease the other 5 patients had normal duodenal histology. DNA was extracted from paraffin-embedded duodenal tissues in all patients and frozen pontine tissue in 1. Two primer pairs (W3F-W4R, W3F-W2R) were used in separate polymerase chain reactions (PCRs) to amplify fragments of Tropberyma whippelii 16S rDNA from these tissue samples. PCR amplicons were detected only in the duodenal tissues from the 2 patients with OMM. The sequences of these amplicons were identical to the corresponding region of the previously published Tropheryma whippelii 16S rDNA sequence. PCR-based assays of intestinal or brain tissue may be of value for confirming, and possibly refuting, a clinical diagnosis of CNS Whipple's disease in a patient with any combination of dementia, supranuclear gaze palsy, hypothalamic manifestations, myoclonus, seizures, ataxia, or OMM, especially when tissue histology is unrevealing.
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PMID:Polymerase chain reaction-based detection of Tropheryma whippelii in central nervous system Whipple's disease. 922 95

In this clinicopathological conference we discuss the case of a patient aged 49 years, who developed progressive clinical picture characterized by palatal tremor (PT), segmental myoclonus, cerebellar ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia, parkinsonism and cognitive decline. He died 10 years after onset. There was no family history of ataxia. Initially a diagnosis of cerebral Whipple's disease was given, but prolonged treatment with ampicilin and cloramfenicol did not modify the clinical course. Magnetic resonance imaging study showed cerebellar and brainstem atrophy. Electrophysiological examination revealed neurogenic electromyographic pattern and abnormal somatosensory and brainstem evoked potentials. Starting from symptomatic PT, as the guide sign, a presumptive pathological diagnosis of sporadic olivopontocerebellar atrophy (OPCA) was established, probably of multiple system atrophy (MSA) type. Neuropathological study demonstrated OPCA with preferential involvement of cerebellum but without glial inclusions. This case illustrates the great clinicopathological complexity of OPCA and that not all forms of sporadic OPCA may be included within MSA.
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PMID:[Man aged 49 years suffering from progressive clinical picture with palatal tremor, segmental myoclonus, ataxia, parkinsonism, amyotrophy, pyramidal signs, supranuclear ophthalmoplegia and cognitive decline]. 1203 Dec 13

A number of neurological symptoms have been described as complications of inflammatory bowel disorders such as coeliac disease, Whipple's disease, Crohn's disease and ulcerative colitis. The neurology of coeliac disease includes disorders of the central nervous system encompassing cerebellar ataxia, epilepsy, myoclonus, dementia and multifocal leukoencephalopathy. Peripheral neuropathies, of axonal and demyelinating types, and myopathies have also been reported. The pathomechanisms are more related to immunological-inflammatory processes than to a malresorptive vitamin deficiencies. While CNS symptoms of coeliac disease show a poor response to gluten restriction, peripheral symptoms may respond to elimination of gluten from the diet. There are few reports of a successful corticosteroid treatment in patients showing inflammatory findings in the CSF or bioptic material. Whipple's disease is caused by the gram-positive bacillus Tropheryma whipplei. Patients with a central nervous system manifestation of Whipple's disease may develop a variety of symptoms including dementia, supranuclear gaze palsy, movement disorders, hypothalamic dysfunction and myorhythmia. The CNS-infection is diagnosed by PCR of the CSF. Long-term antibiotic treatment is required, and relapses may occur after withdrawal of antimicrobial therapy. Crohn's disease and ulcerative colitis are complicated by various forms of polyneuropathies, and arterial and venous cerebrovascular diseases. In most cases with neurological complications of inflammatory gastrointestinal diseases an immune mediated inflammatory process is suspected to be the underlying pathomechanism.
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PMID:[Neurological complications of inflammatory intestinal diseases]. 1291 Apr 46

Jaw tremor can be seen as a component of various neurological disorders such as essential tremor, Parkinson's disease, dystonia, branchial myoclonus, hereditary geniospasm, task-specific tremor, and Whipple's disease, as well as in normal situations such as shivering, and subclinical physiological jaw tremor. In most of these conditions, the jaw tremor is usually associated with tremor or other abnormal involuntary movements affecting additional body parts, and its frequency is lower than 12 Hz. Schrag and colleagues reported a patient with a high-frequency idiopathic jaw tremor, and they speculated it could be related to orthostatic tremor affecting the masseter muscles. We encountered a similar patient with intermittent rapid focal jaw tremor that was successfully treated with botulinum toxin injections to the masseters.
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PMID:Isolated high-frequency jaw tremor relieved by botulinum toxin injections. 1660 5

Neurological manifestations in Whipple's disease are highly variable and tend to occur at later stages of the disease. However, isolated, focal neurological symptoms are reported to be rare. Here we describe the successful treatment of a case of cerebral Whipple's disease initially presenting solely with isolated myoclonic jerks of the left hand and forearm evolving to a segmental myoclonus at a later stage. Additionally, we present - to our knowledge - a novel treatment by administration of immunomodulatory therapy (IVIg) in addition to established antibiotics.
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PMID:A case of cerebral Whipple's disease initially presenting with isolated focal myoclonus. 1679 92

Whipple's disease is a rare multisystemic infection caused by the intracellular bacteria Thropheryma whippelii. Central nervous system (CNS) involvement is not rare. The most frequent CNS manifestations are cognitive and behavioural changes, sopranuclear ophtalmoplegia, myoclonus, epilepsy, ataxia, meningitis and focal cerebral palsy. We report one case of cerebral localization of Whipple's disease with a clinical presentation of recurrent endocranic hypertension and hydrocephalus, and uncommon neurological symptoms, successfully treated by endoscopic third ventriculostomy and antibiotic therapy with ceftriaxone and Trimethoprim-Sulfamethoxazole.
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PMID:Recurrent acute obstructive hydrocephalus as clinical onset of cerebral Whipple's disease. 2053 89

Myorhythmia is defined as repetitive, rhythmic, slow (1-4 Hz) movement affecting chiefly cranial and limb muscles. When occurring in the limbs it may be oscillatory and jerky, whereas oculo-masticatory myorhythmia, typically associated with Whipple's disease, is a slow, repetitive, often asymmetrical, facial and ocular movement. Thus, myorhythmia overlaps phenomenologically with tremor and segmental myoclonus. Although often present at rest, it must be differentiated from parkinsonian or dystonic tremor. Recognition of this movement disorder is important because it is usually associated with lesions involving the brainstem, thalamus, or other diencephalic structures with potentially treatable etiologies. In addition to Whipple's disease, myorhythmia has been described in patients with cerebrovascular disease, listeria encephalitis, anti-N-methyl-d-aspartate receptor encephalitis, steroid-responsive encephalopathy associated with autoimmune thyroiditis, multiple sclerosis, and other disorders. In addition to our own experience, we have systematically reviewed the medical literature, focusing on the phenomenology, pathophysiology, and etiology of this poorly recognized movement disorder. In this review, we aim to highlight the clinical features that differentiate myorhythmia from other movement disorders. Treatment should be directed against the underlying etiology.
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PMID:Myorhythmia: phenomenology, etiology, and treatment. 2548 77


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