Objective: To report unusual gynaecological features associated with Sanfilippo syndrome, a rare progressive multisystem storage disorder.
Case: A 10-year-old adolescent girl with Sanfilippo syndrome type B, presented to the Center for Adolescent Medicine accompanied by her mother. Maternal anxiety was related to a palpable mass over the adolescent's external genitalia that had been causing her discomfort and exacerbation of her behavioural problems when wearing trousers. The mass was also a site of blood accumulation during her menstruation causing hygiene issues. Gynaecological examination revealed hypertrophy and thickening of the adolescent's hymen, labia minora and the posterior fourchette, that protruded like a mass in her perineum. These findings were attributed to the accumulation of heparan sulphate in the connective tissue of her external genitalia and perineal area. Reassurance as well as counselling about hygiene and avoidance of tight clothes were provided to the mother.
Conclusion: Girls with mucopolysaccharidoses need monitoring for evolving gynaecological problems in order to improve their quality of life.
Keywords: Sanfilippo syndrome; adolescents; chronic diseases; external genitalia hypertrophy; mucopolysaccharidosis; quality of life.