Management Of Dental Caries In Shwachman-Diamond Syndrome Children

Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disorder caused by SBDS gene mutations (c.258+2T>C in homozygous state), presents significant challenges in dental care due to rapid caries progression and systemic complications. Three children with SDS under surveillance at a regional orphan disease center presented with rapidly progressing caries immediately after tooth eruption. Despite adherence to oral hygiene practices (500 ppm fluoride toothpaste) and therapeutic dietary modifications with enzyme replacement therapy (Creon), early restorative treatment of primary teeth using glass ionomer cement under general anesthesia failed. Further evaluations revealed Proteus spp. in the oral microbiota and neutral salivary pH. Radical treatment was implemented, involving restoration of posterior teeth with stainless steel crowns, anterior teeth with zirconia crowns, and extraction of teeth with poor prognosis. Home maintenance included 1450 ppm fluoride toothpaste twice a day and a probiotic with D3 (Streptococcus salivarius K12 + cholecalciferol 5mg—30-day courses biannually). Patients were monitored biannually for up to 2 years. Radical treatment stabilized the caries process, with restorations remaining in satisfactory condition. This approach highlights the limitations of conservative treatment in SDS patients and the need for personalized management addressing systemic and microbial factors. The findings align with the limited literature on SDS-related dental challenges, underscoring the importance of tailored care. This case series demonstrates the efficacy of radical treatment in managing aggressive caries in SDS patients, emphasizing its relevance in stabilizing complex dental conditions associated with rare disorders.