Hipoacusia y problemas de vía aérea en niños con mucopolisacaridosis

Abstract

Introduction Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that causes the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. Objective Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. Methods A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007-2010. Results Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. Conclusions Children with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.