C2–C3 anterolisthesis with myelopathy in a toddler with Charcot–Marie–Tooth disease: a rare case and review of syndromic pediatric C2–C3 instability

Introduction and importance: Cervical instability and myelopathy are rare in young children and are frequently overlooked, particularly in those with syndromic or neuromuscular disorders, in which motor delay may be misattributed to the underlying condition. Reported cases of C2–C3 instability are extremely uncommon and have primarily been associated with syndromic diagnoses such as Down syndrome and achondroplasia. Recognizing treatable cervical pathology early is essential to prevent progressive neurological injury. Case presentation: We describe the first reported case of C2–C3 anterolisthesis and instability in a 22‑month‑old girl with Charcot–Marie–Tooth (CMT) disease, who was initially labeled as having cerebral palsy due to motor delay. Advanced imaging revealed congenital cervical anomalies, C2–C3 anterolisthesis, and significant spinal cord compression. The patient underwent surgical decompression with C1–C3 posterior fusion. Following surgery, she demonstrated progressive neurological and motor improvement. Clinical discussion: Although C2–C3 instability is exceedingly rare, the available literature indicates that it occurs most often in association with syndromic conditions and typically responds well to surgical fusion. This case reinforces the importance of considering cervical spine pathology in children with unexplained motor deficits, even when a syndromic diagnosis such as CMT is present. Early imaging and timely intervention can dramatically alter the clinical trajectory and prevent long-term disability. Conclusion: This case highlights the need for careful evaluation of cervical spine instability in pediatric patients with motor delay. Neurosurgeons should avoid prematurely attributing deficits to cerebral palsy or underlying syndromic disorders and should maintain a high index of suspicion for potentially reversible cervical pathology. Early diagnosis and surgical treatment can lead to substantial neurological recovery.