Features of severe periodontal disease in a teenager with Chédiak-Higashi syndrome.

BACKGROUND: Chédiak-Higashi syndrome (C-HS) is a rare congenital disease characterized by defective neutrophil function with abnormal lysosomal inclusions, neutropenia, and reduced chemotaxis. The complete syndrome includes oculocutaneous albinism with photophobia, neurologic features, recurrent infections, and enterocolitis. METHODS: A 14-year-old male C-HS patient was referred to us because of serious periodontal destruction with acute inflamed gingiva and ulcers. Clinical and biological investigations were performed, leading to the diagnosis of C-HS. RESULTS: Laboratory findings included neutropenia and hypergammaglobulinemia. Peripheral blood smears showed giant granules in neutrophils, eosinophils, and granulocytes. Bone marrow smears showed giant inclusions in leukocyte precursor cells. These granules and inclusions were characteristic of Chédiak-Higashi syndrome. Oral radiographic status showed extensive loss of alveolar bone leading, in most cases, to tooth exfoliation. Bacteria often associated with periodontitis were detected in subgingival plaque samples, including Fusobacterium nucleatum, Campylobacter rectus, Prevotella melaninogenica, Peptostreptococcus anaerobius, and Clostridium sp. Biopsies of periodontal tissues for light and electronic microscopic examinations revealed massive bacterial invasion of the epithelial tissue, epithelial cells, and connective tissue. Ultrastructural observations of periodontal polymorphonuclear leukocytes showed defective granulation, with abnormal granules not discharging their lysosomal content against engulfed bacteria. Viable dividing bacteria were found in the cytoplasm. CONCLUSIONS: In this case, early-onset periodontitis seems to be the expression of C-HS granulocyte deficiency. Periodontal treatment of these patients is often unsuccessful. This case report illustrates the importance of the dentist in initiating clinical and biological investigations in such early aggressive periodontitis in young patients.

The correlation between prostate volume, transition zone volume, transition zone index and clinical and urodynamic investigations in patients with lower urinary tract symptoms.

OBJECTIVE: To determine if, in patients with lower urinary tract symptoms (LUTS), measurement of the transition zone (TZ) of the prostate by transrectal ultrasonography (TRUS) and the ratio between the TZ volume and total prostate volume (TZ index) correlates better with clinical and urodynamic investigations than total prostate volume alone. PATIENTS AND METHODS: In total, 150 consecutive patients with LUTS underwent a standardized screening programme including the International Prostate Symptom Sore (IPSS), a physical examination, TRUS of the prostate and urodynamic investigations with pressure-flow studies. The total prostate volume and TZ volume were assessed from TRUS using the ellipsoid formula. Spearman's rank correlation coefficients were calculated between different prostate volume measurements and specific symptomatic and urodynamic variables. RESULTS: The relationships between specific IPSS symptoms, symptom scores and the prostate volume measurements were not statistically significant except for one domain, nocturia, that appeared to be statistically significantly correlated with the TZ index (r = 0.25). The correlations for free flow, pressure-flow variables and prostate volume measurements were stronger, but only moderate at best. The highest correlations were between TZ volume and the linear passive urethral resistance obstruction category, urethral resistance factor and detrusor pressure at maximum flow (r = 0.43, 0.44 and 0.40, respectively). The differences between the correlations of prostate volume and TZ index and these variables were small (r = 0.39, 0.38 and 0.37, respectively for prostate volume and r = 0.38, 0.40 and 0.33 respectively for TZ index). CONCLUSIONS: There were very small differences between the correlations of total prostate volume, TZ volume and TZ index, and clinical and pressure-flow variables. In the assessment of the last two, the estimation of the total prostate volume by TRUS was a reasonable way to obtain the required information about prostate size and measuring TZ volume and calculating TZ index was of limited additional value. Symptoms and bladder outlet obstruction were mainly determined by other factors than the prostate and, specifically, TZ volume. As earlier studies have indicated that including pressure-flow data in the pre-operative evaluation and selection of patients for interventional therapies may improve the overall clinical results, we think that prostate volume, TZ volume or symptoms alone should not be used as the main indication for deciding on the appropriate invasive treatment options.