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)

Opsoclonus myoclonus ataxia syndrome (OMAS) can be refractory to standard therapies and devastating. Alternative treatments are imperative. A 14-month-old male diagnosed with neuroblastoma and paraneoplastic OMAS achieved complete cancer remission with chemotherapy. The OMAS, however, persisted over the subsequent 4 years despite numerous immune-modulatory and immunosuppressive therapies. The patient ultimately achieved complete remission following therapeutic plasma exchange (TPE) combined with rituximab and intravenous immunoglobulin. After three asymptomatic years, he relapsed. Upon reintroducing TPE and rituximab plus oral prednisolone, the patient rapidly achieved a second complete remission. This case offers proof-of-principle for the potential efficacy of TPE for neuroblastoma-associated OMAS.
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PMID:Therapeutic plasma exchange for a case of refractory opsoclonus myoclonus ataxia syndrome. 2892 89

Our aim is to describe clinical and optical coherence tomographic features of acute paraneoplastic focal outer retinitis associated with optic neuropathy in a patient diagnosed with small cell lung carcinoma. Bilateral focal outer retinitis, bilateral optic disc oedema and vitritis were identified in a patient with progressive bilateral visual loss and ataxia. Spectral domain optical coherence tomography (SD-OCT) revealed various extents of granular hyperreflectivity and atrophy of the macular outer retinal layers. Serum and cerebrospinal fluid positivity for anti-CRMP5, anti-HU and anti-amphiphysin antibodies intensified the search for an underlying malignancy, and a small cell lung carcinoma (SCLC) was finally diagnosed. Local and oral steroids along with systemic chemotherapy and radiotherapy achieved cancer remission and partial recovery from the ophthalmic manifestations. Focal outer retinitis associated with optic disc oedema and antibody positivity facilitated the diagnosis of SCLC in a localized stage. SD-OCT allowed the characterization of this entity, expanding the spectrum of paraneoplastic ophthalmological syndromes.
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PMID:Paraneoplastic Focal Outer Retinitis and Optic Neuropathy in a Patient with Small Cell Lung Carcinoma and Anti-CRMP5, Anti-HU and Anti-Amphiphysin Antibodies. 3317 98