Mucopolysaccharidosis type IIIC diagnosed at the age of 12 years: Why was the disease diagnosed so late?
Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland
Third Department of Pediatrics, Center of Postgraduate Medical Education, Dziekanów Leśny, Poland
Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
Department of Medical Genetics, Medical University of Warsaw, Poland
Pediatr Endocrinol Diabetes Metab 2026; 32 (3):
Data publikacji online: 2026/08/14
Article file
- Wiśniewska K, Wolski J, Gaffke L, et al. Misdiagnosis in mucopolysaccharidoses. J Appl Genet 2022; 63: 475–495.
- Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, et al. Glycosaminoglycans and mucopolysaccharidosis type III. Front Biosci (Landmark Ed) 2016; 21: 1393–1409. doi: 10.2741/4463.
- Spahiu L, Behluli E, Peterlin B, et al. Mucopolysaccharidosis III: Molecular basis and treatment. Mukopolisacharydoza III: podstawy molekularne i leczenie. Pediatr Endocrinol Diabetes Metab 2021; 27: 201–208. doi: 10.5114/pedm.2021.109270.
- Muschol N, Giugliani R, Jones SA, et al. Sanfilippo syndrome: consensus guidelines for clinical care. Orphanet J Rare Dis 2022; 17: 391. doi: 10.1186/s13023-022-02484-6.
- Jurecka A, Ługowska A, Golda A, et al. Prevalence rates of mucopolysaccharidoses in Poland. J Appl Genet 2015; 56: 205–210. doi: 10.1007/s13353-014-0262-5.
- Wijburg FA, Węgrzyn G, Burton BK, Tylki-Szymańska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr 2013; 102: 462–470. doi: 10.1111/apa.12169.
- Rintz E, Banacki M, Ziemian M, et al. Causes of death in mucopolysaccharidoses. Mol Genet Metab 2024; 142: 108507. doi: 10.1016/j.ymgme.2024.108507.
- Filocamo M, Tomanin R, Bertola F, Morrone A. Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. Ital J Pediatr 2018; 44 (Suppl 2): 129. doi: 10.1186/s13052-018-0553-2.
- Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): a changing landscape. Mol Genet Metab 2014; 113: 34–41. doi: 10.1016/j.ymgme.2014.07.013.
