OSTEOPETRORICKETS IN AN INFANT WITH COEXISTENT
CONGENITAL CYTOMEGALOVIRUS INFECTION
Katsafiloudi M, Gombakis N, Hatzipantelis E, Tragiannidis A
*Corresponding Author: Athanasios Tragiannidis, M.D., Ph.D., Assistant Professor of Pediatrics, Pediatric
Hematology-Oncology Unit, 2nd Pediatric Department, AHEPA Hospital, Aristotle University of
Thessaloniki, S. Kiriakidi 1 str., Thessaloniki, Greece. Tel: +306-944-944-777. Fax: +302-310-994-803.
E-mail: atragian@ auth.gr; atragian@hotmail.com
page: 107
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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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