Early investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.

Abstract

A toddler presented to audiovestibular medicine with mild bilateral, sensorineural hearing loss identified via the Newborn Hearing Screening Programme. This report focuses on the early clinical assessment and aetiological investigation which prompted testing for metabolic disease and highlights the parents' perspective. Early investigation led to a relatively early diagnosis of mucopolysaccharidosis (MPS) type IIIA: Sanfilippo disease which enabled the family to access a novel treatment option which otherwise would not have been possible.Infants with early signs and symptoms of MPS may present to a range of healthcare professionals. The detection of hearing loss via the newborn hearing screen presents an opportunity for healthcare professionals to initiate early investigation for a possible underlying metabolic disease before end-organ damage progresses. This is vital in allowing affected families to engage with clinical trials and genetic counselling.