| Perinatal neurofibromatosis: two case reports and review of the literature. | |
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MedLine Citation:
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PMID: 19866405 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neurofibromatosis-1 (NF-1) is an autosomal-dominant genetic disorder with many different manifestations. Some may have evidence of the disease at birth. A 66-year (1942 to 2008) retrospective review of 36 patients including 7 fetuses and 29 neonates with NF-1 was performed. Only patients with NF-1 lesions detected before birth by imaging or noted in the first month of life were entered into the review. There was a strongly positive family history of the disease of 70%. The most common presenting findings in the fetus were hydrops, macrocephaly, and thickened neck soft tissues and those in the neonate were caf? au lait macules, skin nodules, and buphthalmos. Survivors developed serious sequelae (e.g., progressive growth of neurofibromas within the neck and mediastinum leading to increasing airway obstruction and death; an enlarging, proptotic, and glaucomatous eye; and occurrence of brain and malignant nerve sheath tumors). Congenital generalized (disseminated) neurofibromatosis was associated with a poor prognosis, with a mortality rate of 92%. Survival rates for patients detected before and after birth were 28% and 62%, respectively. The overall survival was 20/36 or 56%. |
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Authors:
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Hart Isaacs |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2009-10-28 |
Journal Detail:
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Title: American journal of perinatology Volume: 27 ISSN: 1098-8785 ISO Abbreviation: Am J Perinatol Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-03-19 Completed Date: 2010-06-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8405212 Medline TA: Am J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 285-92 Citation Subset: IM |
Copyright Information:
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Thieme Medical Publishers. |
Affiliation:
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Department of Pathology, Rady Childrens Hospital San Diego, San Diego, California 92123, USA. hisaacs@ucsd.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Antineoplastic Combined Chemotherapy Protocols
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therapeutic use Brain Neoplasms / congenital*, diagnosis, drug therapy, pathology* Disease Progression Female Follow-Up Studies Humans Infant, Newborn Magnetic Resonance Imaging Male Monitoring, Physiologic / methods Neurofibromatosis 1 / diagnosis, drug therapy, pathology* Optic Nerve Neoplasms / congenital*, diagnosis, drug therapy, pathology* Prognosis Risk Assessment Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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