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Pulmonary Hypertension in an Infant with Achondroplasia

An 18-month-old achondroplastic child presented with respiratory distress and severe pulmonary hypertension which was considered to be due to an atrial septal defect. The septal defect was closed via catheterization with Amplatzer occluder device, but the patient showed only mild to moderate clinical improvement. In addition, sleep monitoring study revealed apneas, oxygen desaturation and CO2 retention; therefore, magnetic resonance imaging of the brain was performed, showing medullary compression by a stenotic foramen magnum. Surgical craniocervical decompression led to an improvement in sleep disturbances and pulmonary hypertension. In conclusion, several factors, among which medullary compression, may be a cause of pulmonary hypertension in achondroplasia patients.