| Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review. | |
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MedLine Citation:
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PMID: 21054159 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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ABSTRACT Osteopetrosis (OP) is a clinically and genetically heterogeneous disorder characterized by increased bone density. Associations between OP and other clinical entities are rare but include muscular degeneration, Dandy-Walker syndrome, craniosynostosis, and poikiloderma. Infantile OP has also been diagnosed in a group of infants with neuronal storage disease. An association between OP and juvenile xanthogranuloma (JXG) has never been previously reported. Herein we present a case of an intermediate form of OP in a newborn who presented with hepatosplenomegaly and pancytopenia. Histologic evaluation of a bone marrow biopsy demonstrated abnormally thickened bony trabeculae. A liver biopsy demonstrated prominent expansion of portal areas by a histiocytic infiltrate expressing CD45, CD14, CD68, CD163, factor XIIIa, and fascin, while the biopsy was negative for S100 and CD1a. These findings were those associated with JXG. Genetic testing demonstrated a mutation involving the Pleckstrin homology domain-containing family M member 1 ( PLEKHM1 ) gene. A different mutation in this gene has been previously reported in one other patient with OP. Our case is the 2nd reported case with PLEKHM1 mutation in a patient with a mild form of OP. It also demonstrates the 1st reported occurrence of OP concomitantly with JXG. |
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Authors:
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Saeeda Almarzooqi; Suzanne Reed; Bonita Fung; Daniel R Boué; Vinay Prasad; Daniel Pietryga |
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Publication Detail:
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Type: Journal Article Date: 2010-11-05 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: 14 ISSN: 1093-5266 ISO Abbreviation: Pediatr. Dev. Pathol. Publication Date: 2011 Jul-Aug |
Date Detail:
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Created Date: 2011-10-04 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 307-12 Citation Subset: IM |
Affiliation:
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1 Anatomic Pathology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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