Un caso di mucopolisaccaridosi con un possibile lieto fine

A 4-year-old girl with cognitive delay, behavioural disorders and coarse facial features was diagnosed with mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome) following a targeted clinical and genetic evaluation. From early infancy, she presented with recurrent otitis, hearing loss, hepatomegaly and sleep apnoea. Genetic testing confirmed a deficiency in heparan sulfamidase. MPS IIIA is a rare and progressive neurodegenerative lysosomal storage disorder with poor prognosis and no cure. The patient began an experimental enzyme replacement therapy (JR-441) capable of crossing the blood-brain barrier and showed marked clinical improvement within three months. This case highlights the need to suspect storage diseases in multisystem presentations with evolving phenotypes and emphasises the importance of early diagnosis and emerging therapeutic options.