Achondroplasia with respiratory failure

We have documented the case of a 3-year-old girl with achondroplasia, who was hospitalized in our clinic at the age of 14 months with bronchopneumonia and severe hypotonia. Breathing difficulties progressed to complete respiratory failure. She is now mechanically ventilated through a tracheostome. Computed tomography and magnetic resonance imaging showed narrowing of the foramen magnum and vertebrae at the level of the craniocervical junction with subsequent compression of the medulla. A suboccipital craniectomy and laminectomy of the atlas were carried out. Postoperatively the neurologic symptoms were slightly improved, but she had to be further mechanically ventilated. We wish to bring to attention the possibility of respiratory failure caused by cervicomedullary compression in children with achondroplasia. We emphasize the importance of early diagnosis, the possibility of surgical intervention, and monitoring.