Endoscopic adenoidectomy in a case of Scheie syndrome (MPS I S)

The mucopolysaccharidoses (MPS) are a heterogeneous group of relatively rare, progressive, inherited lysosomal storage disorders, characterized by a deficiency of lysosomal enzymes which are responsible for the stepwise degradation of glycosaminoglycans. Their deficiency leads to the accumulation of glycosaminoglycans in various organs causing progressive disruption of cellular functions and multiple systemic effects including otolaryngological problems, upper airway obstructive disease being the most common. Scheie syndrome (MPS I S) is due to the deficient activity of alpha-L-iduronidase leading to the intralysosomal accumulation of dermatan sulfate and heparan sulfate. We present our experience in one such case occuring in a 6-year-old girl with ENT manifestations and who underwent a successful endoscopic adenoidectomy for symptomatic adenoid hypertrophy. This procedure was preferred over a conventional adenoidectomy in order to avoid complications associated with abnormal cervical vertebrae.