Craniocervical junction decompression in an infant with achondroplasia and foramen magnum stenosis with cervicomedullary compression: A case report

Background: Achondroplasia is the most common genetic musculoskeletal dysplasia, caused by a mutation in the FGFR3 gene, with an incidence of 1 in 28,000 live births. A critical neurological complication is bulbo- medullary canal stenosis due to craniocervical junction abnormalities, which can lead to central apnea and severe myelopathy, resulting in high morbidity and mortality. Timely identification of craniocervical junction stenosis is therefore critical, as it may determine the difference between reversible dysfunction and permanent neurological compromise. Case Description: An 8-month-old female with achondroplasia and psychomotor developmental delay presented with cardiorespiratory arrest. She developed ventilator dependency, quadriparesis, hypotonia, and hyporeflexia, requiring a tracheostomy. Imaging revealed severe foramen magnum stenosis with cervicomedullary compression. Neurosurgical management consisted of surgical decompression through suboccipital craniectomy and posterior C1 arch resection with neurophysiological monitoring. Early postoperative sensorimotor improvement was observed; however, respiratory automatism remained compromised, requiring prolonged ventilatory support. Conclusion: Routine pediatric surveillance for early signs of cervicomedullary compression is warranted to identify high-risk patients before irreversible neurological or respiratory deterioration occurs.