case_images: PMC7381104_01
case_images: PMC7381104_02
case_images: Cholestanol and cholestanepentols values during follow-up.
case_images: fped-08-00382-g0002.jpg
case_images: PMC7381104_02_fped-08-00382-g0002.jpg
case_images: F2
case_images: A parallel, constant decrease of cholestanol in plasma was noticed: from 3,140 mug/dl to 600 mug/dl after 14 months of treatment (Figure 2). The patient has been followed for 13 years: in the absence of clinical manifestations and in the presence of normal laboratory values, the patient was strictly monitored with periodic assessment of plasma cholestanol and urinary cholestanepentols glucuronide to monitor silent accumulation of abnormal metabolites with consequent therapy adjustments (Figure 2).