Document Detail


Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
MedLine Citation:
PMID:  16937129     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Arnaud Garnier; Stéphane Dauger; Danièle Eurin; Ida Parisi; Giancarlo Parenti; Catherine Garel; Katy Delbecque; Clarisse Baumann
Related Documents :
752129 - Neurological complications and myelographic features of achondroplasia.
11380369 - Sonographic diagnosis of diastematomyelia in utero: a case report and literature review.
19644329 - Instrumentation and fusion for congenital spine deformities.
12195619 - Pneumocephalus as a cause for headache.
956259 - Venous intravasation of pantopaque during myelography. report of two cases and a review...
8955979 - Epidural anaesthesia and spinal haematoma.
1794179 - Familial multiple blue naevi.
24534389 - Aberrant posterior inferior cerebellar artery injury with c1 lateral mass screw placeme...
23986169 - Infliximab-induced psoriasis in treatment of crohn's disease-associated ankylosing spon...
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-08-26
Journal Detail:
Title:  European journal of pediatrics     Volume:  166     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-02-19     Completed Date:  2007-11-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  327-31     Citation Subset:  IM    
Affiliation:
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Abortion, Therapeutic
Adult
Cervical Vertebrae
Chondrodysplasia Punctata / complications*,  diagnosis
Fatal Outcome
Female
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Phenotype
Pregnancy
Spinal Cord Compression / complications*,  diagnosis
Spinal Stenosis / complications,  diagnosis
Ultrasonography, Prenatal

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Plasma N-terminal pro-B-type natriuretic peptide and mortality in type 2 diabetes.
Next Document:  Low hair selenium and plasma glutathione peroxidase in children with chronic renal failure.