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Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection

Authors
  • Katsafiloudi, M1
  • Gombakis, N1
  • Hatzipantelis, E1
  • Tragiannidis, A1
  • 1 Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of Thessaloniki, Greece , (Greece)
Type
Published Article
Journal
Balkan Journal of Medical Genetics
Publisher
De Gruyter Open Sp. z o.o.
Publication Date
Mar 23, 2021
Volume
23
Issue
2
Pages
107–110
Identifiers
DOI: 10.2478/bjmg-2020-0019
Source
De Gruyter
Keywords
License
Green

Abstract

Osteopetrosis refers to a group of rare hereditary disorders characterized by generalized skeletal densification due to limited bone resorption by osteoclasts. The infantile autosomal recessive form represents the most malignant one with onset early in infancy and life expectancy less than 1-2 years without therapy. Frequently, osteopetrosis is complicated by rickets, a condition called osteopetrorickets. Currently, bone marrow transplantation remains the only treatment option. We present a case of infantile autosomal recessive osteopetrosis complicated by rickets in a 2 and a half-month-old female infant with coexistent congenital cytomegalovirus (CMV) infection, successfully treated by hematopoietic stem cell transplantation (HSCT). Diagnostic procedure and differential diagnosis are discussed along with a short review of the literature. Diagnosis of osteopetrosis requires high clinical suspicion, which is enhanced by radiology and confirmed by bone biopsy and molecular analysis. Our patient has been successfully treated by HSCT and has remained in a good general condition thereafter.

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