A case of cytomegalovirus infection in a neonate with osteopetrosis

Sang Hyun Lee, Jeong Hee Shin, Byung Min Choi, Yun Kyung Kim

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

Original languageEnglish
Pages (from-to)72-76
Number of pages5
JournalPediatric Infection and Vaccine
Issue number1
Publication statusPublished - 2016
Externally publishedYes


  • Cytomegalovirus infection
  • Infant
  • Osteopetrosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Infectious Diseases


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