title: Type IIa hyperlipoproteinemia masquerading as cerebrotendinous xanthomatosis.
abstract: We describe an adult patient with type IIa hyperlipoproteinemia, presenting with Achilles tendon xanthomas, cataracts, dementia, ataxia, pyramidal tract signs, and peripheral neuropathy, which are commonly seen in cerebrotendinous xanthomatosis (CTX). However, the diagnosis of CTX was excluded on the basis of the cholestanol level and the normal cholestanol/cholesterol ratio in his serum and tendon. The pathomechanism for some of the clinical manifestations in type IIa hyperlipoproteinemia and CTX might be caused by a common biochemical disturbance.
authors.affiliation: Division of Internal Medicine, Kagoshima Municipal Hospital, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ijichi
authors.forename: N
authors.initials: N
authors.lastname: Ijichi
authors.forename: K
authors.initials: K
authors.lastname: Niina
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
authors.forename: S
authors.initials: S
authors.lastname: Izumo
authors.forename: F
authors.initials: F
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000368:Aged; D001927:Brain Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D008297:Male; D013710:Tendons / Q000473:pathology*; D014973:Xanthomatosis / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology