Malignant infantile osteopetrosis: otolaryngological complications and management.

OBJECTIVES

To inform otolaryngologists about upper airway obstruction requiring tracheotomy and other otolaryngological manifestations of malignant infantile osteopetrosis (MIOP) and to discuss pathophysiological features, management, and new treatment strategies in MIOP.

DESIGN

Ongoing case series combined with a retrospective chart review.

SETTING

International tertiary pediatric hospital.

INTERVENTIONS

Patients with MIOP were initially referred for treatment and routine follow-up. Tracheotomy was performed to manage obstructive sleep apnea. Audiograms were also performed at regular intervals.

RESULTS

The records of 9 patients were examined. The otolaryngological findings of hearing loss, obstructive sleep apnea (sometimes requiring tracheotomy), otitis media, and chronic osteomyelitis with facial fistulas were identified.

CONCLUSIONS

Osteopetrosis is a rare condition caused by a failure of the osteoclast to resorb bone. This results in thickened dense, deformed, and easily fractured bone. As a result, growth failure, anemia, hypoplastic dentition, chronic infections, facial fistulas, blindness, hearing loss, nasal congestion, and upper airway obstruction may occur. The management of otolaryngological problems in a child with osteopetrosis is an important component in comprehensive care. To our knowledge, this study represents the largest case series of MIOP in the otolaryngology literature.