P96 – 3019: Hyperactivity, delayed speech, and coarse facies – Comes to mind Sanfilippo syndrome?

Abstract

Mucopolysaccharidosis-IIIA or Sanfilippo-A syndrome is caused by deficiency of lysosomal a-heparan N-sulfatase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the patients have little somatic features or skeletal changes and a high incidence of false-negative results on the urinary screening tests and so it remains underdiagnosed as a cause of developmental delay both in children and adults. We describe here a boy who presented with developmental delay, hyperactivity and behavioral problems. The attention of pediatricians should be drawn to hyperactivity, delayed language and developmental delay as possible initial presentations of mucopolysaccharidosis in order to avoid needless diagnostic and treatment procedures.