GROWTH OUTCOMES IN CHILDREN WITHCEREBROTENDINOUS XANTHOMATOSIS: A3-YEAR LONGITUDINAL EVALUATION
SSIEM 2026 ANNUAL SYMPOSIUM: NEXT GENERATION METABOLIC MEDICINE, Helsinki, Finlandiya, 25 - 28 Ağustos 2026, ss.357-358, (Özet Bildiri)
- Yayın Türü: Bildiri / Özet Bildiri
- Basıldığı Şehir: Helsinki
- Basıldığı Ülke: Finlandiya
- Sayfa Sayıları: ss.357-358
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Background: Cerebrotendinous xanthomatosis (CTX) is a raremetabolic disorder caused by sterol 27-hydroxylase deficien-cy due to pathogenic variants in the CYP27A1 gene. Impairedbile acid synthesis leads to decreased chenodeoxycholicacid levels and the accumulation of cholestanol and atypicalbile acid precursors, resulting in neurological dysfunction,early-onset cataracts, tendon xanthomas, and chronic diar-rhea. Growth retardation and reduced bone mineral densitymay also occur. This study aimed to evaluate pre-treatmentgrowth parameters and their changes during the first threeyears of treatment in pediatric CTX patients.Methods: Pediatric patients diagnosed with CTX were in-cluded in this retrospective study. Pre-treatment and annualfollow-up data over three years, including height, body weight(BW), body mass index (BMI), BMI percentiles, and z-scores,were analyzed. Cholestanol levels and Mignarri scores atdiagnosis were recorded. Statistical analyses were performedusing IBM SPSS Statistics v27.0. Data distribution was as-sessed using the Kolmogorov–Smirnov test. Non-normallydistributed variables were expressed as median [minimum–maximum]. Repeated measures were analyzed using theFriedman test with Wilcoxon post-hoc comparisons. Correla-tions between BMI and clinical parameters were evaluatedusing Spearman correlation analysis, and annual changeswere assessed using linear regression.Results: The median age at diagnosis was 14 years [9–16], and71.4% (n=5) were male. The median Mignarri score was 275.0[200–325], and the median pre-treatment cholestanol levelwas 31.0 [22.8–70]. Over three years, BW, height, BMI, andBMI z-scores increased progressively, with the most pro-nounced improvement observed in the first year. Significantincreases were observed in BW and height (p<0.001), withsecond- and third-year values being significantly higher thanpre-treatment levels. BMI and BMI z-scores also increasedsignificantly (p<0.001 and p=0.002, respectively). No signif-icant correlation was found between BMI z-scores and Mi-gnarri score, age at diagnosis, or cholestanol levels (p>0.05).Linear regression demonstrated an annual increase of 0.466units in BMI z-score(β=0.466, p=0.059, 95% CI: 0.019–0.951).Conclusion: Significant improvements in growth parameterswere observed over three years in pediatric CTX patientstreated during childhood. Increases in BW, height, and BMIz-scores were noted, with sustained annual improvement.These changes were independent of baseline disease severityand age at diagnosis.