Annerose Keilmann1, Anne K Läßig2, Anja Pollak-Hainz2, Wolf J Mann3, Michael Beck4, Michael Hainz5. 1. Department for Communication Disorders of the University Medical Center of the Johannes Gutenberg-University Mainz, Germany. Electronic address: annerose.keilmann@unimedizin-mainz.de. 2. Department for Communication Disorders of the University Medical Center of the Johannes Gutenberg-University Mainz, Germany. 3. Department for Otorhinolaryngology of the University Medical Center of the Johannes Gutenberg-University Mainz, Roemerwallklinik, Roemerwall 51-55, 55131 Mainz, Germany. 4. Department for Genetics of the University Medical Center of the Johannes Gutenberg-University Mainz, Germany. 5. Department for Pathology of the University Medical Center of the Johannes Gutenberg-University Mainz, Germany.
Abstract
OBJECTIVE: Tonsillar hypertrophy caused by the progressive accumulation of partially degraded glycosaminoglycans (GAGs) within the cells is a typical symptom in patients with mucopolysaccharidoses (MPS). We studied the tissue of adenoids and tonsils of patients suffering from MPS with special regard to characteristic morphological features serving as possible markers for diagnosis. METHODS: Adenoids of 87 patients and tonsils of 4 patients with MPS (2 patients with MPS I, 7 MPS II, 5 MPS IV and 10 MPS VI and 63 controls) and controls were examined. Examinations were repeated in a blinded manner by two pathologists. RESULTS: The key feature observed was a subepithelial "clearing" on scanning magnification, induced by perivascular accumulation of histiocytoid cell forms. Similar agglomerates could sometimes be found at the base of lymphoid follicles. In the blinded assessment a specificity of 92% (100% for adenoids) and a sensitivity of 100% were achieved. The inter-observer-consistency was 92% (100% for adenoids). In tonsillectomy specimens marked subepithelilal fibrosis can lead to a false-negative evaluation. CONCLUSIONS: Qualified histological examination could be an option for early diagnosis of MPS.
OBJECTIVE:Tonsillar hypertrophy caused by the progressive accumulation of partially degraded glycosaminoglycans (GAGs) within the cells is a typical symptom in patients with mucopolysaccharidoses (MPS). We studied the tissue of adenoids and tonsils of patients suffering from MPS with special regard to characteristic morphological features serving as possible markers for diagnosis. METHODS: Adenoids of 87 patients and tonsils of 4 patients with MPS (2 patients with MPS I, 7 MPS II, 5 MPS IV and 10 MPS VI and 63 controls) and controls were examined. Examinations were repeated in a blinded manner by two pathologists. RESULTS: The key feature observed was a subepithelial "clearing" on scanning magnification, induced by perivascular accumulation of histiocytoid cell forms. Similar agglomerates could sometimes be found at the base of lymphoid follicles. In the blinded assessment a specificity of 92% (100% for adenoids) and a sensitivity of 100% were achieved. The inter-observer-consistency was 92% (100% for adenoids). In tonsillectomy specimens marked subepithelilal fibrosis can lead to a false-negative evaluation. CONCLUSIONS: Qualified histological examination could be an option for early diagnosis of MPS.