| Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. | |
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MedLine Citation:
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PMID: 19635601 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with inclusion-bearing endothelial cells. This peculiar vascular malformation was delineated by Fowler in 1972 as a stereotyped lethal fetal phenotype associating hydranencephaly-hydrocephaly with limb deformities, called Fowler syndrome (FS) or "proliferative vasculopathy and hydranencephaly-hydrocephaly" or "encephaloclastic proliferative vasculopathy" (OMIM#225790). In PGV, the disruptive impact of vascular malformation on the developing central nervous system (CNS) is now well admitted. However, molecular mechanisms of abnormal angiogenesis involving the CNS vasculature exclusively remain unknown, as no genes have been localized nor identified to date. We observed the pathognomonic FS vascular malformation in 16 fetuses, born to eight families, four consanguineous and four non-consanguineous. A diffuse form of PGV affecting the entire CNS and resulting in classical FS in 14 cases, can be contrasted to two cases with focal forms, confined to restricted territories of the CNS. Interestingly in PGV, immunohistological response to a marker of pericytes (SMA, Smooth in PGV Muscle Actin), was drastically reduced as compared to a match control. Our studies has expanded the description of FS to additional phenotypes, that could be called Fowler-like syndromes and suggest that the pathogenesis of PGV may be related to abnormal pericyte-dependent remodelling of the CNS vasculature, during CNS angiogenesis. Gene identification will determine the molecular basis of PGV and will help to know whether the Fowler-like phenotypes are due to the same underlying molecular mechanisms. |
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Authors:
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B Bessi??res-Grattagliano; B Foliguet; L Devisme; L Loeuillet; P Marcorelles; M Bonni??re; A Laquerri??re; C Fallet-Bianco; J Martinovic; S Zrelli; N Leticee; V Cayol; H C Etchevers; M Vekemans; T Attie-Bitach; F Encha-Razavi |
Publication Detail:
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Type: Journal Article Date: 2009-07-25 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Nov-Dec |
Date Detail:
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Created Date: 2009-11-09 Completed Date: 2010-02-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 386-92 Citation Subset: IM |
Affiliation:
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Laboratoire d'Anatomo-Foeto-Pathologie, Institut de Pu??riculture et de P??rinatalogie, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Induced Blood Vessels / pathology* Brain / blood supply* Female Fetal Diseases / ultrasonography* Humans Male Neovascularization, Pathologic* Pregnancy Pregnancy Outcome Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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