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Malignant infantile osteopetrosis: otolaryngological complications and management Stocks RM; Wang WC; Thompson JW; Stocks MC 2nd; Horwitz EMArch Otolaryngol Head Neck Surg 1998[Jun]; 124 (6): 689-94OBJECTIVES: 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.|Face[MESH]|Female[MESH]|Fistula/etiology[MESH]|Hearing Loss, Bilateral/etiology[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Osteomyelitis/etiology[MESH]|Osteopetrosis/*complications[MESH]|Otitis Media/etiology[MESH]|Retrospective Studies[MESH]|Sleep Apnea Syndromes/*etiology/surgery[MESH]|Tracheostomy[MESH] |
