Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
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.
Garnier
Arnaud
A
Pediatric Intensive Care Unit, Service de Réanimation, AP-HP, Hôpital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02, 48, Boulevard Sérurier, 75019, Paris, France.
Dauger
Stéphane
S
Eurin
Danièle
D
Parisi
Ida
I
Parenti
Giancarlo
G
Garel
Catherine
C
Delbecque
Katy
K
Baumann
Clarisse
C
D000015:Abnormalities, Multiple; D000032:Abortion, Therapeutic; D000328:Adult; D002574:Cervical Vertebrae; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013117:Spinal Cord Compression / Q000150:complications* / Q000175:diagnosis; D013130:Spinal Stenosis / Q000150:complications / Q000175:diagnosis; D016216:Ultrasonography, Prenatal