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)

We present the case of a 47-year-old woman with encephalopathy, ataxia and oscillopsia diagnosed with opsoclonus myoclonus syndrome (OMS). In adults, OMS in the context of encephalopathy is commonly paraneoplastic. A CT of the chest, abdomen and pelvis and a gastroscopy were performed and were normal. A fluorodeoxyglucose positron emission tomography CT scan demonstrated increased uptake in the mid-oesophagus and an endoscopic ultrasound examination demonstrated intramural thickening of 5 mm with no epithelial lesion. The patient was treated with three courses of intravenous immunoglobulin (IvIg) with improvement in her symptoms. A year following the initial presentation a repeat endoscopic examination demonstrated an ulcerated oesophageal carcinoma with regional lymph node involvement. The patient was treated with neo adjuvant chemotherapy prior to oesophagectomy. The patient's symptoms resolved within 6 months of tumour resection without the need for further IvIg. Unfortunately, after a further 6 months the patient developed liver metastases and died.
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PMID:Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus. 2459 87