A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis
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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 hepatospleno megaly, 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.
Abstract
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 hepatospleno megaly, 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.
참고문헌 (11)
- Mazzolari E, "A single-center experience in 20 patients with infantile malignant osteopetrosis", Am J Hematol, 84, pp.473~479 (2009)
- Stark Z, "Osteopetrosis", Orphanet J Rare Dis, 4, pp.5~ (2009)
- Siddaiahgari SR, "Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis", Indian J Pediatr, 81, pp.96970~ (2014)
- Sobacchi C, "Osteopetrosis: genetics, treatment and new insights into osteoclast function", Nat Rev Endocrinol, 9, pp.522~536 (2013)
- Nyholm JL, "Prevention of maternal cytomegalovirus infection: current status and future prospects", Int J Womens Health, 2, pp.23~35 (2010)
- Ihde LL, "Gottsegen CJ, Masih S, Patel DB, Vachon LA, et al. Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis", Radiographics, 31, pp.1865~1882 (2011)
- Albers-Schönberg HE, "Röntgenbilder einer seltenen Knochenerkrankung", Munch Med Wochenschr, 51, pp.365~368 (1904)
- Superti-Furga A, "Nosology and classification of genetic skeletal disorders: 2006 revision", Am J Med Genet A, 143A, pp.1~18 (2007)
- Ornoy A, "Fetal effects of primary and secondary cytomegalovirus infection in pregnancy", Reprod Toxicol, 21, pp.399~409 (2006)
- Pass RF, "Congenital cytomegalovirus infection following first trimester maternal infection: symptoms at birth and outcome", J Clin Virol, 35, pp.216~220 (2006)
- Oliver SE, "Neurodevelopmental outcomes following ganciclovir therapy in symptomatic congenital cytomegalovirus infections involving the central nervous system", J Clin Virol, 46, pp.S22~S26 (2009)