Advanced SearchSearch Tips
A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis
facebook(new window)  Pirnt(new window) E-mail(new window) Excel Download
  • Journal title : Pediatric Infection and Vaccine
  • Volume 23, Issue 1,  2016, pp.72-76
  • Publisher : The Korean Society of Pediatric Infectious Diseases
  • DOI : 10.14776/piv.2016.23.1.72
 Title & Authors
A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis
Lee, Sang Hyun; Shin, Jeong Hee; Choi, Byung Min; Kim, Yun-Kyung;
  PDF(new window)
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.
Osteopetrosis;Cytomegalovirus infection;Infant;
 Cited by
Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol 2009;84:473-9. crossref(new window)

Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009;4:5. crossref(new window)

Siddaiahgari SR, Makadia D, Shah N, Devi RR, Lingappa L. Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis. Indian J Pediatr 2014;81:969-70. crossref(new window)

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol 2013;9:522-36. crossref(new window)

Nyholm JL, Schleiss MR. Prevention of maternal cytomegalovirus infection: current status and future prospects. Int J Womens Health 2010;2:23-35.

Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA, et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. Radio graphics 2011;31:1865-82.

Albers-Schonberg HE. Rontgenbilder einer seltenen Knochenerkrankung. Munch Med Wochenschr 1904;51:365-8.

Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007;143A:1-18. crossref(new window)

Ornoy A, Diav-Citrin O. Fetal effects of primary and secondary cytomegalovirus infection in pregnancy. Reprod Toxicol 2006;21:399-409. crossref(new window)

Pass RF, Fowler KB, Boppana SB, Britt WJ, Stagno S. Congenital cytomegalovirus infection following first trimester maternal infection: symptoms at birth and outcome. J Clin Virol 2006;35:216-20. crossref(new window)

Oliver SE, Cloud GA, Sanchez PJ, Demmler GJ, Dankner W, Shelton M, et al. Neurodevelopmental outcomes following ganciclovir therapy in symptomatic congenital cytomegalovirus infections involving the central nervous system. J Clin Virol 2009;46:S22-6.