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
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
418 - factor V
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.