ENT and mucopolysaccharidoses

Abstract

The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders. Undiagnosed MPS patients are frequently referred to otolaryngologists before the diagnosis of MPS is confirmed. Otolaryngologists thus have an early opportunity to recognize MPS and they can play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS. The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal hernia, macrocephaly, macroglossia, coarse facial features, hydrocephalous, joint stiffness, bone deformities, valvular cardiomyopathy, carpal tunnel syndrome, and posture and visual disorders.

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

“…Finally, this review highlights the importance of early diagnosis of hearing loss and annual comprehensive audiological evaluation for patients with MPS. This is consistent with other recommendations found in the literature [ 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 19 , 34 , 80 , 110 , 111 , 112 ]. Owing to the high prevalence and progressive nature of hearing loss in MPS, regular audiological assessments are needed to determine the progression of hearing loss and the need for hearing aids or tympanostomy tube placement.…”

Hearing loss in patients with mucopolysaccharidoses‐1 and ‐6 after hematopoietic cell transplantation: A longitudinal analysis

“…8 Undiagnosed MPS patients are frequently evaluated by otorhinolaryngologists because of the early-onset of earnose-throat (ENT) manifestations, including otitis media, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnea syndrome (OSAS), progressive respiratory disorders, and hearing loss. 9 Hearing loss in MPS may be conductive, sensorineural or mixed in origin. The conductive component of hearing loss is the result of seromucinous otitis, ossicular chain deformities or disruption, or arthropathy.…”

“…The MPS are lysosomal storage disorders caused by a deficiency of one of the enzymes involving glycosaminoglycan (GAG) degradation, leading to multi‐systemic disease and, if severe, premature death 8 . Undiagnosed MPS patients are frequently evaluated by otorhinolaryngologists because of the early‐onset of ear‐nose‐throat (ENT) manifestations, including otitis media, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnea syndrome (OSAS), progressive respiratory disorders, and hearing loss 9 …”

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery

“…They include protruding or depressed frontal bone, a depressed nasal bridge, wide nasal alae, thick lips, angled and hypoplastic mandible (micrognathia), macroglossia, distorted teeth, gingival hypertrophy, also restriction of the mouth opening, with moderate-to-severe adenotonsillary hypertrophy and thickening of the soft tissues in the laryngopharynx. Bianchi et al [73] have investigated the role of otolaryngologists in the multidisciplinary approach to paediatric or adult MPS [74]. Respiratory disorders occur in all type of MPS since affected individuals classically have a number of anatomical features that predispose to airway dysfunction [75, 76].…”