Wednesday, March 5, 2008

eponyms in medicine - part 44

431 - Erb’s palsy is upper plexus palsy affecting C5 and C6 and +/- C7 nerve roots. lower brachial plexus palsy is called klumpke's palsy .

432 - Denys-Drash syndrome is gonadal dysgenesis (male pseudohermaphroditism) and nephropathy leading to renal failure with increased risk of Wilms’s tumor; dominant negative missense mutation of WT-1.

433 - Hers disease is type VI glycogen storage disease - deficiency in liver phosphorylase; presents as hepatomegaly and growth retardation; hypoglycemic - hyperlipidemia - and hyperketosis usually mild if present; hepatomegaly and growth retardation improve with age and usually disppear at puberty.

434 - Trendelenburg’s gait is waddling gait in people with weakness or paresis of gluteal muscles; seen in progressive muscular dystrophy.

435 - Cori’s disease is glycogen storage disease type III - deficiency in debranching enzyme - amylo-1 -6-glucosidase - leading to variable accumulation of glycogen in the liver - heart - or skeletal muscle - characterized by stunted growth - hepatomegaly - and hypoglycemia.

436 - Lafora’s disease is progressive myoclonus epilepsy - autosomal recessive - onset teenage years - characterized by seizures and cumulative neurological deterioration - death usually within ten years of first symptoms; associated with intracellular inclusions (Lafora bodies); associated with mutation in gene EPM2A.

437 - Bruton’s tyrosine kinase is mutation causes X-linked agammaglobulinemia (XLA also associated with defect in intact membrane-bound m chain (it’s essential for B-cell development) Btk found only in B cells

438 - Call-Fleming syndrome is sudden-onset severe headache - focal neurological deficits - and seizures; associated with serotonin modulating drugs like SSRIs.

439 - dimple sign is in dermatofibroma - lateral compression with thumb and index finger produces a depression - or “dimple.”

440 - Nissen fundoplication is for treating gastroesophageal reflux disease - surrounding lower end of esophagus with cuff of gastric fundal muscle to increase lower esophageal sphincter competence.

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