A CASE OF LONG-TERM OBSERVATION OF A CHILD WITH SANFILIPPO SYNDROME

Аннотация

Mucopolysaccharidosis type III (Sanfilippo syndrome) is a rare multisystem disease caused by the accumulation of glycosaminoglycans (GAG) in cells of various organs, leading to impaired function, specific phentopic signs and progressive neurocognitive disorders. Polymorphism and non-specificity of clinical manifestations are a common cause of late diagnosis of MPS. We present our own prolonged clinical observation of a type III MPS case in a patient who was under our supervision for 12 years. The diagnosis was established and confirmed at the age of three. The disease manifested itself by neuropsychiatric regression and systemic somatic manifestations. Motor deficits, cognitive impairments with the development of dementia and recurrent aspiration syndrome progressed in the dynamics of the child.