Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata

Abstract

Brachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions in this condition has not been elucidated. Here, we report a very rare adolescent case of CDPX1, which demonstrated progressive myelopathy caused by atlantoaxial subluxation and a subsequent retroodontoid pseudotumor, successfully treated with surgery. Our case highlights a new clinically important fact that upper cervical spinal lesions in CDPX1 can deteriorate even after childhood and thus need close monitoring.

Surgical Treatment of Chondrodysplasia Punctata Tibial-Metacarpal Type Until Skeletal Maturity

“…The surgical treatment of atlantoaxial subluxation in pediatric patients presents anatomical challenges because of the presence of immature bones, and a high complication rate is typically reported 8 . The best way to reduce complications is to wait for skeletal maturation while carefully observing for any clinical symptoms suggestive of neurological deficit 9 . We carefully followed up our patient from infancy and performed MRI evaluations annually since the patient turned 3 years to confirm that there was no myelopathy, cord compression, or intramedullary signal changes until early adolescence.…”