Mucopolisacaridosis tipo III C, un reto diagnóstico. Revisión de un caso clínico

Abstract

Background: Mucopolysaccharidoses are a group of rare diseases with low incidence, characterized by the accumulation of intra and extracellular glycosaminoglycans. In Ecuador, there are no official statistics regarding the prevalence of patients affected by these conditions. So far, 7 types and 13 subtypes of the disease have been described worldwide. Among these, MPS type III, or Sanfilippo syndrome, is classified into 4 subtypes, of which the MPS type III C is rare. This condition is inherited in an autosomal recessive pattern. Clinically, it is characterized by a progressive degeneration of the central nervous system, leading to severe intellectual disability, developmental regression and other neurological manifestations. The diagnosis is clinical and it is confirmed with laboratory tests and molecular tests. Moreover, there is no definitive treatment for its primary manifestations. Objectives: Describe the clinical presentation of the mucopolysaccharidosis type III C, detail the procedure to establish an accurate and early diagnosis and review the currently available therapeutic options. Methods: Data collection through the anamnesis, physical examination, review of the patient’s complementary exams. Moreover, a complementary bibliographic review for the analysis of the case. Results: A clinical case of MPS III C is described in a 22-year-old female patient who presented with facial dysmorphisms and progressive neurological deterioration with epilepsy, and loss of cognitive, motor, and language skills. Definitive diagnosis was established late through genetic testing.