Department of Pulmonary, Critical Care & Sleep Medicine, Vardhman Mahavir Medical College & Safdarjang Hospital, New Delhi.
A rare case of metabolic disease - mucopoly saccharidosis in a 10 years old child with SDB is being presented. There was history of snoring, irritability and inattentiveness. Though ENT examination revealed retrognathia and a large tongue with bulky pharyngeal walls and pillars, there was no evidence of tonsils or adenoids. Polysomnography done revealed features of significant sleep disordered breathing.
MPS: Mucopolysaccharidosis, PSG: polysomnography, OSA: Obstructive sleep apnea, AHI: Apnea hypopnea index