Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor...

Background/Objectives: Smith-Lemli-Opitz syndrome (SLOS) is a genetic metabolic disorder characterized by impaired cholesterol synthesis and a wide range of developmental anomalies. This article presents a case of a girl with SLOS, diagnosed with two pathogenic variants of the DHCR7 gene. The objective is to evaluate the impact of early, multidisciplinary therapeutic interventions on the patient's development. Methods: Following diagnosis, a comprehensive metabolic therapy was initiated, including cholesterol and cholic acid supplementation. An interdisciplinary therapeutic approach was employed, involving physical therapy, speech therapy, and sensory integration, aimed at addressing various developmental challenges faced by the patient. Results: The therapy led to gradual improvements in the patient's psychomotor development, although the cholesterol levels were only partially improved and the accumulation of sterol precursors (7-DHC and 8-DHC) persisted. The coordinated care model facilitated better outcomes compared to less integrated efforts. Conclusions: The results highlight the importance of early diagnosis and integrated care in optimizing developmental outcomes for children with SLOS. A multidisciplinary approach is essential for addressing the complexities of the syndrome and promoting overall development.