Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases |
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| Authors: | Arnaud Garnier Stéphane Dauger Danièle Eurin Ida Parisi Giancarlo Parenti Catherine Garel Katy Delbecque Clarisse Baumann |
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| Institution: | 1.Pediatric Intensive Care Unit, Service de Réanimation,AP-HP, H?pital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02,Paris,France;2.Pediatric Imaging Department,H?pital Charles Nicolle,Rouen,France;3.Department of Pediatrics,Federico II University,Naples,Italy;4.Pediatric Imaging Department,AP-HP, H?pital Robert-Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02,Paris,France;5.Department of Foetopathology,AP-HP, H?pital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02,Paris,France;6.Department of Clinical Genetics, AP-HP, H?pital Robert Debré, and Université Paris VII, Faculté de Médecine Denis Diderot, IFR02,Paris,France |
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| 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.
No conflicts of interest occurred for this work. |
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| Keywords: | Neonate Prenatal diagnosis Spinal cord Magnetic resonance Brachytelephalangic chondrodysplasia punctata |
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