Osteopetrorickets in An Infant with Coexistent Congenital Cytomegalovirus Infection

Area of Science:

• Genetics and Molecular Biology
• Pediatrics
• Hematology

Background:

• Osteopetrosis is a group of rare hereditary skeletal disorders characterized by increased bone density due to impaired osteoclast function.
• The infantile autosomal recessive form is the most severe, often presenting early in life with a poor prognosis without treatment.
• Osteopetrosis can be complicated by rickets, forming osteopetrorickets, and coexisting infections like cytomegalovirus (CMV).

Purpose of the Study:

• To present a case of infantile autosomal recessive osteopetrosis with rickets and congenital CMV infection.
• To highlight the successful treatment of this complex case using hematopoietic stem cell transplantation (HSCT).
• To discuss diagnostic procedures, differential diagnoses, and review relevant literature.

Main Methods:

• Case presentation of a 2.5-month-old female infant with infantile autosomal recessive osteopetrosis, rickets, and CMV infection.
• Diagnostic workup including clinical evaluation, radiology, bone biopsy, and molecular analysis.
• Treatment with HSCT.

Main Results:

• Successful treatment of infantile autosomal recessive osteopetrosis complicated by rickets and CMV infection using HSCT.
• The patient remained in good general condition post-transplantation.
• The study underscores the importance of early diagnosis and timely intervention.

Conclusions:

• Hematopoietic stem cell transplantation (HSCT) is a viable and effective treatment for severe infantile osteopetrosis, even with complications like rickets and CMV infection.
• Early diagnosis, supported by clinical suspicion, radiology, and molecular analysis, is crucial for successful management.
• This case highlights the potential of HSCT to significantly improve outcomes in patients with this rare and aggressive disorder.