Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vogt-Koyanagi-Harada syndrome is a rare disease, which probably has a cell-mediated autoimmune pathogenesis, marked by ocular (anterior and/or posterior uveitis), dermatological (poliosis, canities, vitiligo) and neurological (meningo-encephalitis) disorders of variable severity in variable combinations. The clinical pattern in the case reported here showed severe neurological involvement (headache, ataxia and confusional state) followed by anteroposterior uveitis. Instrumental investigations (cerebrospinal fluid, VEPs, BAEPs, EEG, CT and MRI brainscans) confirmed the diagnosis. The response to cortisone therapy was excellent. We emphasize the importance of the neuroradiological investigations, because of their peculiarities, and review the reports of cases with marked meningo-encephalitic impairment, given the dearth of reports in the neurological journals.
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PMID:Vogt-Koyanagi-Harada syndrome: clinical and instrumental contribution. 195 5

Two brothers aged 75 and 61 years, born from non-consanguineous non-affected parents, had spinocerebellar ataxia and impaired proprioception in the lower limbs, associated with sensorineural deafness, amyotrophy of the hands and spastic paraparesis. The older patient also had vitiligo of the right hand, and both displayed likely dysendocrine features. The disease was present since the second-third decade and showed a slow course. An EMG confirmed a neurogenic disorder strictly localized to the distal upper limbs. This new phenotype of heredoataxia is compared with previously reported similar syndromes and, in particular, with diseases featuring localized amyotrophy of the hands.
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PMID:Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis in two brothers. 395 22

Hashimoto encephalopathy (HE) is a controversial autoimmune disorder, probably underdiagnosed, that causes a wide variety of neurological manifestations. Symptoms differ among patients and may be very severe in some cases. However, it can be treated, with a very good prognosis. In our case, a teenaged girl with a family history of migraine, vitiligo and benign paroxysmal positional vertigo presented with severe ataxia, vomiting and hypotension. She had a history of similar, but milder, symptoms and was misdiagnosed several times. She had subclinical hypothyroidism, and high levels of antithyroid antibodies. There were abnormal MRI and visual evoked potential findings. After excluding other more common causes, we diagnosed her as having 'Hashimoto Encephalopathy', and started treatment with corticosteroids, on which she showed dramatic improvement. After about 2 years of presentation, the patient is able to continue her life independently.
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PMID:An unusual cause of cerebellovestibular symptoms. 2676 47

Background: Vogt-Koyanagi-Harada disease (VKHD)-like symptoms have previously been reported in 11 melanoma patients treated with immune checkpoint inhibitors. Materials & methods: We report a female patient with multilocular metastatic melanoma who was treated with nivolumab. Results: Following the first nivolumab dose, she experienced bilateral blurry vision, hearing loss, vertigo and ataxia. Ocular ultrasound was consistent with the diagnosis of uveitis. Audiography revealed severe bilateral sensorineural hearing loss. A high-dose corticosteroid regimen was initiated under which the patient developed generalized vitiligo. Abdominal and thoracic CT scans showed an almost complete response to nivolumab therapy. This patient fulfilled all criteria of VKHD which is characterized pathogenetically by an antimelanocytic autoimmune process. Conclusion: The present case showed an impressive response to antimelanoma immunotherapy. Based on these data, the occurrence of VKHD in melanoma patients appears to be a strong indicator for immune checkpoint inhibitor efficacy.
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PMID:Concurrent Vogt-Koyanagi-Harada disease and impressive response to immune checkpoint blockade in metastatic melanoma. 3230 86