Resumo

AGUILAR, Ximena A; MONTANO A, Rafael; SAUNERO, Roxana  e  GALVEZ L, Álvaro. Presentation of a clinical case of mucopolysaccharidosis type IV, Morquio syndrome. Cuad. - Hosp. Clín. [online]. 2014, vol.55, n.2, pp. 40-46. ISSN 1652-6776.

We report the case of a patient 16 years old with a diagnosis of mucopolysaccharidosis (MPS) type IV- A, with a brief theoretical review of chronic course and progression of this multisystem disease, which manifests with extensive signs symptoms, findings are presented, with laboratory and radiological reported abnormalities. The aim is to document the event and communicated to Bolivian medical community, the importance of inborn errors of metabolism, considered "rare" diseases, which in our opinion; suffer a sub- diagnosis because of the few Bolivian scientific publications on the topic.

Palavras-chave : Morquio Syndrome; MPS IVA Morquio A Disease; Galactosamine-6-Sulfatase Deficiency.