Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical expression of POLG mutations is largely variable. We present a patient with a new mutation in spacer region of mitochondrial polymerase gamma protein (P765T). The clinical picture is characterized by the presence of sensory-ataxic neuropathy, ophthalmoplegia, dysarthria and gastroparesis, which had not been previously observed in ataxia neuropathy spectrum.
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PMID:Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. 2280 37

An otherwise healthy 30-year-old male acquired gastrointestinal beriberi and subsequent Wernicke's encephalopathy after 1 session of heavy drinking. Nausea, vomiting, and anorexia relentlessly progressed. The patient developed external ophthalmoplegia after 2 months. Intravenous 1,000 mg thiamine reversed both neurologic and gastrointestinal symptoms within hours. It is hard to diagnose gastrointestinal beriberi since the symptoms are nonspecific. The patient underwent 11 emergency room visits, 3 hospital admissions, and laparoscopic cystectomy within 2 months, but the gastrointestinal symptoms continued to progress. Two months after the onset of gastrointestinal symptoms, external ophthalmoplegia appeared, and, therefore, intravenous thiamine was given. The simultaneous resolution of the debilitating gastrointestinal symptoms and external ophthalmoplegia was unique. Thiamine deficiency remains underdiagnosed and should be considered in patients who develop unexplained gastroparesis or autonomic nervous failure of the digestive system, even in the nonalcoholic population.
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PMID:Gastrointestinal Beriberi and Wernicke's Encephalopathy Triggered by One Session of Heavy Drinking. 3154 93