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Cherubism is a rare disorder with bilateral enlargement of the mandible that regresses with time. Bone degrading osteoclasts and bone building osteoblasts function abnormally causing the changes. It is an autosomal dominant condition which manifests in early childhood by the age of 2–5 years, but later regresses with time. Airway obstruction occurs due to backward displacement of the tongue affecting respiration.
An 18 year old male was referred to us for snoring. On inquiry the mother reported swelling of the lower face since childhood, which had progressed to its present size. The patient had difficulty in speech, mastication, and swallowing with mental retardation. There was a history of excessive daytime somnolence, nocturia, and increased irritability during the previous few years. On examination he had characteristic features of cherubism. The lower eyelids were retracted and his oral examination revealed gingival hypertrophy with most of the upper and lower teeth embedded in the gums. The tongue was enlarged and the posterior pharyngeal wall could not be visualised. Fine needle aspiration biopsy of the mandible revealed the presence of giant cells with fibrous tissue. A diagnostic record of night time recording of respiratory variables was performed which showed the presence of snoring and an apnoea/hypopnoea index (AHI) of 12/hour associated with oxygen desaturation. A second study was performed with nasal continuous positive airway pressure (CPAP) of 7 cm H2O, following which AHI reduced to 3/hour with no oxygen desaturation or snoring. Obstructive sleep apnoea has been reported only once earlier in a 5 year old boy who was treated with tracheostomy.1 This is the second report associating cherubism with obstructive sleep apnoea and mental retardation, and the first report of an adult who responded to CPAP therapy.
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