Periodontal condition and treatment in a patient with rare systemic condition: A case report for acid sphingomyelinase deficiency.

Abstract

Acid sphingomyelinase deficiency (ASMD) is a rare group of autosomal recessive disorders. This report provides the first detailed description of the periodontal condition and treatment response in a patient with chronic visceral ASMD. A 49-year-old white woman with ASMD showed elevated visible plaque index (VPI), gingival bleeding index (GBI), and bleeding on probing (BOP) at 100% of sites. Periodontal pocket depths (PPD) were mostly shallow to moderate (at 96% of sites), whereas the loss of clinical attachment (CAL) was moderate to severe (54% and 46% of sites, respectively, at 4-6mm and≥7mm categories). Periapical radiographs revealed the presence of furcation involvement and intra-bony defects. The periodontal diagnosis was periodontitis stage IV, generalized, grade C. Ninety days after the end of the supra and subgingival control (e.g., cause-related therapy), marked reduction was observed for all periodontal indicators: VPI (-83%), GBI (-79%), BOP (-85%), elimination of sites PPD≥7mm, 27% increase in sites PPD 1-3mm (from 64% to 91%), and gain of clinical attachment (gain of 11% CAL 1-3mm and 25% CAL 4-6mm; and a reduction of 36% CAL≥7mm). Despite the severity of the initial periodontal condition, the patient with chronic visceral ASMD responded well to the non-surgical periodontal treatment.