학술논문
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
Document Type
Journal Article
Author
Source
Subject
*DYSPLASIA
*CELL transformation
*SYMPTOMS
*SPINAL cord
*MEDICAL radiography
*MAGNETIC resonance imaging
*ABORTION
*CERVICAL vertebrae
*FETAL ultrasonic imaging
*SPINAL stenosis
*PHENOTYPES
*SPINAL cord compression
*TREATMENT effectiveness
*MULTIPLE epiphyseal dysplasia
*MULTIPLE human abnormalities
*DISEASE complications
*DIAGNOSIS
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Language
ISSN
0340-6199
Abstract
Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption. [ABSTRACT FROM AUTHOR]