Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011053 (deafness)
 10,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muckle-Wells syndrome (MWS) is a rare syndrome, characterized by chronic recurrent urticaria, often combined with fever, chills, rigors, malaise, and arthralgia. Progressive sensorineural deafness, and, in approximately one third of the patients, amyloidosis of the kidneys as well as of other organs may occur. It was first described in 1962 by Muckle and Wells. Herein we describe six cases of MWS showing, in addition to the classic features of MWS, unique skin lesions that to the best of our knowledge have not been described before in association with MWS.
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PMID:Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. 1653 22

Muckle-Wells syndrome is a rare autosomally dominant disorder belonging to the group of periodic fever syndromes. Three main features of the disease are: (i) urticarial eruptions; (ii) progressive perceptive deafness; and (iii) amyloid nephropathy. A 26-year-old Japanese woman had suffered at birth from an urticarial rash and episodic fever. The fever was frequently associated with chills and ill-defined malaise. There was no familial history of urticarial rash or fever. Although she did not recognize hearing loss, audiometry revealed perceptive deafness. She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. Skin biopsy specimens from her buttock showed a sparse perivascular and interstitial infiltrate of neutrophils in the papillary dermis. Periodic fever syndrome was diagnosed. Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T, G907A, G1315A, G1075C) were detected. We treated her with prednisolone, which had a partial effect. Previous treatment with colchicines, antihistamines, dapsone, clarithromycin, minocycline hydrochloride and loxoprofen sodium had been unsuccessful. Muckle-Wells syndrome may go undiagnosed for many years or be misdiagnosed as refractory urticaria. Therefore, we should consider the possibility of periodic fever syndrome when we see patients with refractory urticaria and episodic fever.
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PMID:A probable case of Muckle-Wells syndrome. 1655 80

We report here a case of 18 year old male with tremors of hands, deafness, tendency to fall while walking, drowsiness and double vision of total duration 1(1/2) years. He had internuclear ophthalmoplegia, broken saccades, hypertonia and hyperreflexia of all four limbs, intention tremors, signs of gait and limb ataxia. Pupillary reactions and fundus examination were normal and signs of meningeal irritation or sensory neurological deficit were absent. MRI head and cervical spine with gadolinium enhancement revealed demyelination as evident from multiple oblong foci isointense on T1-weighted images and hyperintense on T2-weighted and fluid attenuated inversion recovery sequences in corpus callosum, sub-cortical white matter, right thalamus, pons and periaqueductal region of midbrain. Ill-defined linear hyperintense signals were observed in cervical spinal cord. No skeletal abnormality was noted in the skull or cervical spine. Oligoclonal bands were present in the cerebrospinal fluid. Brainstem auditory evoked potentials were abnormal, although visual evoked potentials were in normal range. A diagnosis of primary progressive multiple sclerosis (PPMS) was made fulfilling the revised criteria as laid down. In view of its presentation, it is a unique case of PPMS from India.
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PMID:Ataxia and deafness in a young male: an unusual aetiology. 1711 54

The famous painter Francisco Goya y Lucientes (1746-1828) suffered during his life one or several diseases, the nature of which has not been determined with certainty. At age of 46, Goya suffered from severe illness that lasted a few months. It caused loss of vision and hearing, tinnitus, dizziness, a right-sides paralysis, weakness and general malaise. Although he recovered from a cerebral stroke which accompanied it, the deafness remained unaltered. The illness divides Goya's artistic life into two great different periods. After in the painter produces his greatest works. The visual experience after the illness was heightened by the exclusion of acoustics stimuli and the artist's talent rose to the highest level. His character became more withdrawn and introspective and his entire vitality was direscted to his painting. Goya's painting became progressively more gloom and satirical during his long convalescence. The artist suffered a stroke at age 73 that again rendered him paralysed on the right side. The precise cause of his illness has long been debated. Ome medical writers have favored the diagnosis of syphilis, some consider the possibility of an exogenous psychosis, and other suggests that the symptoms of the illness are more congruent with heavy metal poisoning, particulary lead. It is interesting to speculate how the Goya's deafness influenced the artist's mentality and the changes of his painting. Interesting is also the problem of the sensory compensation in fact of disturbance of physiological function of one of the senses.
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PMID:[Deafness and mentality in Francisco Goya's paintings]. 1968 94