Thelansis

 Sanfilippo Syndrome, also referred to as Mucopolysaccharidosis Type III, is an autosomal recessive disorder encompassing four distinct subtypes: A, B, C, and D. These subtypes correspond to deficiencies in specific enzymes, namely heparan-N-sulfatase, α-N-acetylglucosaminidase, α-glucosaminide acetyltransferase, and N-acetylglucosamine-6-sulfatase, respectively. Each subtype results in the accumulation of heparan sulfate (HS). The primary target of this syndrome is the central nervous system, causing relatively mild somatic effects. Common clinical manifestations include hyperactivity and neurocognitive-behavioral problems. Typically, patients receive a diagnosis when they exhibit language delays, behavioral issues, and hyperactivity, which become noticeable between the ages of 2 and 6 years. Around the age of ten, up to 60% of individuals with MPS III experience seizures. Beyond the first decade of life, a gradual onset of progressive gait abnormalities and pyramidal signs freque...