Type III mucopolysaccharidosis: literature review and clinical observation

Abstract

Introduction. Mucopolysaccharidosis type III (Sanfilippo syndrome) is a rare multi-stem disease caused by the accumulation of glycosaminoglycans (GAG) in the cells of various organs, leading to a violation of their function, specific phentopic signs and progressive neurocognitive disorders. Neurologic manifestations are leading in the clinical picture of the disease, as by the time of manifestation, and by severity. In most patients, in the first and even second years of life, children have normal development or indistinctly pronounced deviations. In the absence of substitute enzyme therapy for this type of MPS, a severe delay in intellectual and speech development develops rapidly, recurrent respiratory episodes in the form of pneumonia and bronchial obstruction are observed, the child is disabled early. Polymorphism and non-specificity of clinical manifestations, lack of alertness of doctors to orphan diseases are a common cause of late diagnosis of MPS. The article presents an overview of data on the prevalence, genetic and phenotypic variants of type III mucopolysaccharidosis, features of patient management and presentation of clinical observation of a child with this pathology.Clinical observation. We present our own prolonged clinical observation of a type III MPS case in a patient who has been under our supervision for 12 years. The diagnosis was established and confirmed at the age of three years. The disease was manifested 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.Conclusions. The classical clinical picture of type III MPS is distinguished by the aggressive development of cognitive and motor disorders at 2–3 years of life, characteristic phenotypic and somatic manifestations of the disease. This case demonstrates the multiplicity of problems and the need for interaction between doctors of various specialties.