Abstract for E- poster Mucopolysaccharidosis III (Sanfilippo Syndrome) with severe behavioural problems

BACKGROUND-: Sanfilippo syndrome(mucopolysaccharidosis III) is a rare autosomal recessive inherited metabolic disorder that causes progressive neuro cognitive degeneration and severe hyperactivity. Of the seven subtypes type III is the most common subtype, while type three is seen in 4 in 1,00,000 live births while the other types are that is 1 in 1,00,000. Progressive developmental delay is usually seen after a period of normal development. This is followed by behavioural abnormalities such as severe hyperactivity aggressiveness and impulsivity that does not respond to stimulant medication METHOD -: We have reported a 10-year-old boy who presented to the OPD with complaints of excessive hyperactivity, impulsive behaviour, poor social interaction & regression in developmental milestones. RESULT: -Initially the child was diagnosed as ADHD and was on stimulant medication but didn’t seem to improve. Child had coarse facial features, short stature, inguinal hernia and recurrent ear infections suggestive of MPS. On urinary-GAG test – GAG value= 10.2.On qualitative analysis Heparan Sulphate were present which further confirmed the diagnosis of MPSIII. Behavioural management was done by non-stimulants like Atomoxetin and antipsychotic (Resiperidone) to which child showed significant improvement. CONCLUSION -: Children with behavioural abnormalities, developmental problems with dysmorphic faces should be screened for mucopolysaccharidosis III. As children initially are misdiagnosed with intellectual disability, ADHD, autistic spectrum disorder putting them at risk for unnecessary investigations and treatment.