title: Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?
abstract: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis, caused by impaired hydroxylation of cholesterol side chains due to deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1), leading to accumulation of cholestanol and cholesterol in brain and other tissues. Elevated plasma cholestanol serves as a key marker for the clinical diagnosis of CTX. In the present report we describe a young man with CTX who was on high dose steroids for a misdiagnosed chronic inflammatory demyelinating polyneuropathy (CIDP) and had normal level of serum cholestanol. When steroids were discontinued, markedly elevated serum cholestanol was measured concomitant with marked clinical worsening. This observation may imply that steroids can lower plasma cholestanol, possibly by directly inducing residual CYP27A1 activity or by inducing alternative pathways for cholestanol elimination.
authors.affiliation: Department of Neurology, Meir General Hospital Kfar-Saba, and the Sackler Faculty of Medicine, Tel-Aviv University, Israel.
authors.forename: Tali
authors.initials: T
authors.lastname: Siman-Tov
authors.forename: Vardiella
authors.initials: V
authors.lastname: Meiner
authors.forename: Natan
authors.initials: N
authors.lastname: Gadoth
mesh_terms: D000125:Achilles Tendon / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000097:blood*; D002784:Cholesterol / Q000378:metabolism; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control*; D018450:Disease Progression; D015536:Down-Regulation / Q000187:drug effects / Q000502:physiology; D006801:Humans; D008297:Male; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000188:drug therapy; D011241:Prednisone / Q000494:pharmacology / Q000627:therapeutic use; D019821:Simvastatin / Q000627:therapeutic use; D013250:Steroid Hydroxylases / Q000172:deficiency / Q000187:drug effects* / Q000235:genetics; D013256:Steroids / Q000494:pharmacology* / Q000627:therapeutic use; D016896:Treatment Outcome; D015854:Up-Regulation / Q000502:physiology; D019294:Xanthomatosis, Cerebrotendinous / Q000097:blood* / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D013256:Steroids; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D002784:Cholesterol; D019821:Simvastatin; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D011241:Prednisone