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.
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.
Authors: Laura L Burgoyne; Amanpreet Kaur; Catherine A Billups; Mary-Edna Parish; Roland N Kaddoum; George B Bikhazi; Lilia A Pereiras Journal: Paediatr Anaesth Date: 2010-11 Impact factor: 2.556
Authors: Paul J Orchard; Anders L Fasth; Jennifer Le Rademacher; Wensheng He; Jaap Jan Boelens; Edwin M Horwitz; Amal Al-Seraihy; Mouhab Ayas; Carmem M Bonfim; Farid Boulad; Troy Lund; David K Buchbinder; Neena Kapoor; Tracey A O'Brien; Miguel A Diaz Perez; Paul A Veys; Mary Eapen Journal: Blood Date: 2015-05-26 Impact factor: 22.113