| Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II. | |
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MedLine Citation:
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PMID: 20157781 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease). METHODS: Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child affected by Pompe disease. RESULTS: In the only affected foetus, glycogen storage was observed in fibrocytes and endothelial cells of a chorionic villi sample at 11 week's gestation. Severe multi-organ involvement was demonstrated in the tissues of the aborted foetus. No abnormal material was found in the chorionic samples of two subsequent pregnancies, and a healthy boy and girl were born at term and remain unaffected. Both exhibited a partial reduction in acid maltase and were carriers of the maternal mutation. CONCLUSIONS: Ultrastructural findings correlated with biochemical and genetic results, providing a clear and early indicator of the definite diagnosis for future pregnancy management or an early therapeutic approach. |
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Authors:
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Beatriz San Millan; Susana Teijeira; Carmen Domínguez; Irene Vieitez; Carmen Navarro |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-2-16 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: - ISSN: 1573-2665 ISO Abbreviation: - Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-2-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Pathology and Neuropathology, University Hospital of Vigo, Meixoeiro, Vigo, 36200, Spain. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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