Purpose: Achondroplasia is the most common form of dwarfism. Respiratory failure is responsible for most deaths among these children and is often related to cervicomedullary compression (CMC).
We present our experience with early cervicomedullary decompression in infants with achondroplasia.
Methods: Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. Data included pre‑ and post‑surgical neurological examinations, MRI scans, and sleep study results.
Results: Ten infants were included. Ages at surgery were 4 to 23 months (12.5±6.88 months). All infants displayed neurological findings prior to surgery, although often subtle. All infants underwent a foramen magnum opening with a wide C1 laminectomy.
Following surgery, seven patients (70%) demonstrated improved neurological status, and one displayed neurological deterioration. Seven patients demonstrated improved sleep quality one year after surgery. These patients had a good or improved neurological status following surgery.
Preoperative radiological findings included abnormal hyperintense T2 changes in all children (improved following surgery in 6 children), brainstem distortion in 4 children (improved in all), and diminished CSF spaces at the level of the foramen magnum in 8 children (improved in 7). One child with extensive preoperative T2 changes accompanied by neurological and respiratory decline, deteriorated following surgery, and remains chronically ventilated.
Conclusions: Infants with achondroplasia are prone to neurological and respiratory symptoms. We believe that early diagnosis and early surgery for decompression of the foramen magnum and C1 lamina can alleviate respiratory symptoms, improve neurological status, and perhaps prevent sudden infant death in this population.
