Thelansis

  Sanfilippo Syndrome, also known as Mucopolysaccharidosis Type III is an autosomal recessive disease with four subtypes, A, B, C, and D, with deficiencies in heparan-N-sulfatase, α-N-acetylglucosaminidase, α-glucosaminide acetyltransferase, and N-acetylglucosamine-6-sulfatase, respectively, all leading to the accumulation of HS. It primarily affects the central nervous system with mild somatic effects; classic findings include hyperactivity and neurocognitive-behavioural issues. Patients are often diagnosed when language delay, behavioural issues, and hyperactivity are noticed between the ages of 2 and 6 years old. By the age of ten, up to 60% of MPS III patients have seizures. After the first decade of life, insidious progressive gait disorders and pyramidal signs often lead to a vegetative state and death by the early 30s. Retinopathy is the most common ocular condition seen in Sanfilippo syndrome. Aggregations of heparan sulfate within the retinal pigment epithelial cell...