Pediatr Infect Vaccine.  2016 Apr;23(1):72-76. 10.14776/piv.2016.23.1.72.

A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis

• Lee SH
• Shin JH
• Choi BM
• Kim YK

• KMID: 2163227
• DOI: http://doi.org/10.14776/piv.2016.23.1.72

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 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.

Keyword

Osteopetrosis; Cytomegalovirus infection; Infant

MeSH Terms

Anemia
Bone Resorption
Brain
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Cytomegalovirus Infections*
Cytomegalovirus*
Deafness
Humans
Hypocalcemia
Immunosuppression
Infant
Infant, Newborn*
Osteopetrosis*
Plasma
Radiography
Real-Time Polymerase Chain Reaction
Rickets
Sclerosis
Thrombocytopenia
Vision Disorders

Figure

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  Fig. 1. Osteopetrosis on brain computed tomography. No evidence of intracranial calcification is observed. Sclerotic change of the skull could represent osteopetrosis.

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  Fig. 2. Osteopetrosis on extremity radiography. Metaphyseal flaring and increased bone density of long bones is consistent with osteopetrosis.

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  Fig. 3. Osteopetrosis on temporal computed tomography. Sclerotic change of the skull base and funnel-shaped internal auditory canals on both sides represent osteopetrosis on temporal computed tomography.

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  Fig. 4. Changes of white blood cell, platelet count and hemoglobin level with treatment. Upward arrow indicates RBC transfusion and downward arrow indicates platelet transfusion.

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