Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of toxic leucoencephalopathy induced by 5 FU derivatives is reported. A 46-year-old woman was diagnosed as having breast cancer, and radical mastectomy was performed on May, 1982. After operation, she was given irradiation and 5FU derivative (tegafur or carmofur) 600 mg and Nolvadex 20 mg (tamoxifen citrate) were administered every day. After taking the medication for a month, she began to stagger and developed a tremor in both arms. She was admitted to our hospital on August 16, because she showed evidence of dysarthria and memory disturbance in addition to her initial complaints. Soon after admission, she developed akinetic mutism, and metastasis in the brain stem was suspected. In spite of her severe condition, she was given radiation over the posterior fossa and continued the medication. On September 22, CT disclosed low density area in the centrum semiovale bilaterally. She died of DIC on November 30. An autopsy was performed. The brain weight was 1110 g and the outer surface of the brain was normal. In frontal cut surfaces stained with K.B., bilateral degeneration of the centrum semiovale was apparent. Microscopically, the degree of myelin degeneration was stronger than that of axon, and numerous fatty granular cells were found in the degenerated area. There were no bizarre shaped astrocytes, inclusion body or cellular infiltration. Fibrillary gliosis was scanty. No metastasis was found in the central nervous system or other organs. Based on these pathological findings and clinical history, toxic leucoencephalopathy induced by 5 FU derivatives was suggested.
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PMID:[A case of toxic leucoencephalopathy induced by 5FU derivatives]. 393 66

A 63-years-old woman noticed unsteady gait at the age of 56 years and then developed dysarthria two years later. A general physical examination at age 56 revealed mild hypertrophy of both Achilles tendons. On neurological examination, she had scanning speech, moderate limb and truncal ataxia, and moderate hyperreflexia of all limbs. A soft tissue X-ray examination disclosed hypertrophy of both Achilles tendons with multiple punctate calcification. Brain MRI showed diffuse cerebellar atrophy. Motor evoked potentials in the right limb disclosed a prolonged central conduction time. Blood chemistry showed familial type IIa hypercholesterolemia (cholesterol 320 mg/dl, and LDL-cholesterol 245 mg/dl), yet cholestanol level was normal. A examination of CTX gene mutation at hot spots revealed no mutation. Her mother and two siblings also had hypertrophy of Achilles tendons as well as type IIa hypercholesterolemia. In addition, the one sibling showed mild ataxia of lower limbs, respectively. This report suggests a possible link between familial type IIa hypercholesterolemia and cerebellar degeneration syndrome clinically mimicking CTX.
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PMID:[A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. 1088 31