case_images: PMC11743494_01
case_images: PMC11743494_02
case_images: Spleen length against (A) age and body height (B) according charts for pediatric European Caucasian population spleen length is expressed in cm, with smoothing lines for the 5th, 50th and 95th percentiles.
case_images: fped-12-1518344-g001.jpg
case_images: PMC11743494_02_fped-12-1518344-g001.jpg
case_images: F1
case_images: In the following months, spleen size consistently decreased, eventually reaching normal size (8 cm) at the last evaluation (50-95th percentile for age and height) (Figure 1).
case_images: Liver function: ALT/GPT (blue line) and AST/GOT (orange line) (A) and lipid asset: triglycerides, total cholesterol (t-Chol), LDL and HDL (B) reference limits in dashed lines: ALT/GPT <41 U/L, AST/GOT <40 U/L, t-Chol <200 mg/dl, LDL <160 mg/dl, and HDL >55 mg/dl.
case_images: fped-12-1518344-g002.jpg
case_images: PMC11743494_02_fped-12-1518344-g002.jpg
case_images: F2
case_images: The concentration of ALT/GPT decreased to normal values, while AST/GOT remained slightly above the upper limit (Figure 2A). The lipid profile was evaluated by analyzing total cholesterol (t-Chol), low density lipoprotein (LDL), high density lipoprotein (HDL) and triglycerides (Figure 2B).
case_images: Biomarkers concentration over time during therapy. Reference upper limits in dashed lines: Triol 23.6 ng/ml, 7-KC 40.1 ng/ml, Lyso-SM 15.0 micromol/L, and Lyso-509 4.6 MoM.
case_images: fped-12-1518344-g003.jpg
case_images: PMC11743494_02_fped-12-1518344-g003.jpg
case_images: F3
case_images: The specific ASMD biomarker Lyso-sphingomyelin (Lyso-SM) together with the non-specific biomarkers N-palmitoyl-O-phosphocholineserine, also called Lyso-sphingomyelin-509 (Lyso-509), and the two oxysterols, 7-ketocholesterol (7-KC) and cholestan-3beta,5alpha,6beta-triol (Triol), were evaluated in plasma before starting therapy and at several points over the two years (Figure 3).
case_images: WHO growth charts for body mass index (BMI), height, and weight of the patient.
case_images: fped-12-1518344-g004.jpg
case_images: PMC11743494_02_fped-12-1518344-g004.jpg
case_images: F4
case_images: His height was at the 25th percentile at onset, reaching the 75th at the last evaluation (Figure 4).