eponyms in medicine - part 42

411 - Krabbe’s disease is AR sphingolipidosis (sulfatidose) - from beta-galactosidase deficiency - resulting in increased galactocerebrosides - mental retardation - blindness - deafness - paralysis - convulsions - total absence of myelin - globoid bodies in white matter of brain - fatal in early life.

412 - Tourette’s syndrome is chronic multiple motor and verbal tics - symptoms typically begin before 21 y.o. - first signs motor tics in 80% and vocal tics in 20% but eventually both motor and vocal; higher than expected number of left-handedness and ambidexterity; 40-50% involve self-mutilation such as nail-biting - hair-pulling - etc.

413 - Fletcher factor is prekallikrein; in intrinsic phase of coagulation - converts XII to XIIa; deficiency results in elevated PTT but with no clinical bleeding.

414 - Ellsworth-Howard test is for diagnosis of pseudohypoparathyroidism by assessing response to exogenous PTH.

415 - moyamoya disease is occlusive disease involving large intracranial arteries - especially the distal ICA and stem of the MCA and ACA; “puff of smoke” (in Japanese - moya moya) appearance on angiography from lenticulostriate arteries developing rich collateral circulation around the middle cerebral occlusion that; anticoagulation risky because of occurrence of SAH from rupture of the transdural anastomotic channels.

416 - Senear-Usher syndrome is pemphigus erythematosus; a localized variety of pemphigus foliaceus confined to seborrheic sites.

417 - Tangier disease is rare recessive disease characterized by enlarged orange tonsils - peripheral neuropathy affecting small fibers involved in pain and temperature - and a near-complete absence of HDL-cholesterol; ABC1 - the ATP binding-cassette transporter 1 gene - mutated in Tagier disease; gene mediates efflux of cholesterol from cells; named after small island in Chesapeake Bay where disease first identified in five-year-old boy.

418 - factor V Leiden is Arg(506)->Gln - results in resistance to cleavage by activated protein C (an anticoagulant) - found in 20% of patients with venous thromboembolism - 6% of U.S. population.

419 - Miller Fisher syndrome is variant of Guillain-Barré where cranial nerves are affected - leading to triad of ataxia - areflexia and ophthalmoplegia; cross-reacting antibodies to GQ1b ganglioside have been found; triggered by certain strains of C. jejuni.

420 - Hutchinson’s sign is pigment in the paronychial area suggesting melanoma.