INTRODUCTION: Morquio's Syndrome is a mucopolysaccharidosis type IV commomnly associated with auditive deficiency, although this association is not well described yet. OBJECTIVE: To evaluate the finding of auditive deficiency in a patient with Morquio's Syndrome. METHODS: We describe the case of a 16-year-old male patient, with the diagnosis of Morquio's Syndrome, that underwent physical examination and audiometric evaluation to determine the auditive loss. RESULTS: The patient had a history of skeletal complaints and since he was 2 years old. His parents were related and there was a positive family history for the same findings. For the last five years he has been complaining of progressive auditive loss. He had a typical appearence and weighted 27 Kg, with a stature of 99 cm, short neck, globous thorax and abdomen, genu valgum and wrists hyperextension. Otoscopy showed bilateral opacification of the ear drums and audiometry revealed mild conductive disacusis. DISCUSSION: Mucopolysaccharidosis (MPS) are caused by the deficiency of liposomal enzymes, leading to progressive accumulation of mucopolysaccharhides into the tissues. Morquio's Syndrome is a MPS type IV inherited in a autosomic recessive pattern. Tissue deposits may occur into the visceral organs, bones, cornea and ears leading to structural and functional abnormalities. CONCLUSIONS: Morquio's Syndrome is a metabolic disease of carbohydrates usually beginning between 18 and 24 months with a variable range of clinical findings. It is important to make the diagnosis early in order to avoid the limitations of the sensory losses.
Morquio's syndrome; mucopolysaccharidosis; auditive deficiency
