Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: A case report and literature review

Saeeda Almarzooqi, Suzanne Reed, Bonita Fung, Daniel R. Boué, Vinay Prasad, Daniel Pietryga

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)307-312
Number of pages6
JournalPediatric and Developmental Pathology
Issue number4
Publication statusPublished - Jul 2011
Externally publishedYes


  • Infantile osteopetrosis
  • Juvenile xanthogranuloma
  • PLEKHM1 gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


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