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...

  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...