Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

Lina Johanna Moreno Giraldo,Daniela Arturo-Terranova,José María Satizábal Soto

doi:10.1590/2326-4594-jiems-2019-0006

Abstract

ABSTRACT Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations. We realized a retrospective study of clinical and otorhinolaryngologic findings of 35 patients diagnosed with MPS type II, IV-A and VI of the Colombian southwest. As a result, we found that 64% of the patients evaluated had hearing loss, 11.3% had hypertrophy of the tonsils,17.10% short neck and macroglossia. Additionally, 47.8% of the patients presented otitis media. 20% received treatment with hearing aids. no patient reported otosclerosis or tinittus. In patients with different types of MPS, there is a high frequency and progressive tendency to suffer audiological losses and recurrent infections, so it is important an opportune diagnosis, permanent monitoring and adequate therapy to avoid the repercussion of the pathology in the quality of life of patients.

Highlights

Mucopolysaccharidosis (MPS) forms a group of inherited metabolic disorders caused by the specific deficiency of a hydrolase responsible for a step in the degradation of mucopolysaccharides or glycosaminoglycans (GAG) due to mutations in the genes that code for the enzymes involved in said degradation[1]; four main GAGs are known: chondroitin sulfate, dermatan sulfate, heparan sulfate and keratin sulfate with variable localization in the body[2,3]; and its accumulation within the connective tissue results in a wide range and variety of clinical effects that depends on the enzyme deficiency.[4]
65.64% of the patients evaluated according to the types of MPS, presented hearing loss, whether it was mild conductive or bilateral sensorineural, 11.3% had hypertrophy of the tonsils, 17.10% diagnosed with a short neck (SN). 3 patients who presented OSAHS were found through polysomnography (8,5%) (Table 1) in general the parameters associated with polysomnography were low with respect to the control; 17.1% of the patients presented otitis media (OM) (Chronic or acute) (Table 2)
In the case of those affected by MPS II, the incidence of OM was reported in 33%, and for MPS IV-A and VI it occurred in 12.5% and 20% respectively (Table 3)

Summary

Introduction

Mucopolysaccharidosis (MPS) forms a group of inherited metabolic disorders caused by the specific deficiency of a hydrolase responsible for a step in the degradation of mucopolysaccharides or glycosaminoglycans (GAG) due to mutations in the genes that code for the enzymes involved in said degradation[1]; four main GAGs are known: chondroitin sulfate, dermatan sulfate, heparan sulfate and keratin sulfate with variable localization in the body[2,3]; and its accumulation within the connective tissue results in a wide range and variety of clinical effects that depends on the enzyme deficiency.[4] based on this enzyme deficiency, 7 different forms of MPS have been assigned: MPS I (Hurler’s syndrome)[5] MPS II (Hunter’s syndrome)[6] MPS III (Sanfilippo’s syndrome)[7] MPS IV (Morquio syndrome)[8] MPS VI (Maroteaux-Lamy syndrome)[9], MPS VII (Sly disease)[10] and MPS IX (Natowicz syndrome)[11]; Each of these syndromes has a subtype and in total eleven enzymatic defects have been detected.

Methods

Results

Discussion

Conclusion