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Spinal cord injury rehabilitation in a pediatric achondroplastic patient: case report
1Department of PM&R, University of Minnesota, St. Paul.
Insights
Achondroplasia, a genetic disorder, can cause serious neurological issues in children, including spinal cord problems. This case highlights a young patient with achondroplasia experiencing quadriplegia from an unexplained spinal cord infarction.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Achondroplasia is a common autosomal dominant genetic disorder affecting bone growth, occurring in 1 in 25,000 births.
- Neurological complications are increasingly recognized in pediatric achondroplasia, including spinal stenosis and cord compression.
- These complications can lead to significant morbidity and, in severe cases, mortality.
Observation:
- A 12-year-old patient with achondroplasia presented with sudden-onset quadriplegia.
- The patient experienced an apparently nontraumatic cervical spinal cord infarction.
- Complicating factors included impaired temperature regulation and hypercalcemia of immobilization.
Findings:
- Achondroplasia patients with spinal cord injury share some impairments with other SCI patients.
- However, individuals with achondroplasia are prone to specific neurological deficits due to their unique anatomy.
- Altered body habitus in achondroplasia exacerbates certain neurological and functional challenges.
Implications:
- This case underscores the critical need for vigilance regarding neurological complications in pediatric achondroplasia.
- Early identification and management of spinal issues are crucial to prevent severe outcomes.
- Understanding the specific challenges faced by achondroplastic individuals with SCI can improve patient care and outcomes.
Abstract:
Achondroplasia is an autosomal dominant condition that occurs in approximately 1 of 25,000 births. It has long been associated with neurologic morbidity and mortality in adults, but more recently it has been increasingly identified in children. Neurological sequelae of achondroplasia includes spinal stenosis, spinal cord compression at the foramen magnum (which can result in fatal acute craniocervical junction compression), hydrocephalus, radiculopathy, paresis, and abnormal spinal curvature. We report the case of a 12-year-old achondroplastic patient who incurred an apparently nontraumatic cervical spinal cord infarction, with resultant quadriplegia, with no apparent cause, which was complicated by impaired tolerance of temperature changes and hypercalcemia of immobilization. Whereas persons with achondroplasia have many of the same physical and functional impairments from spinal cord injury as other SCI patients, they are more likely to experience certain types of neurologic deficits and are more subject to other problems because of their altered body habitus.