Balkan Journal of Medical Genetics

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

INTRODUCTION

Osteopetrosis, also called “marble bone disease,” refers to a group of rare hereditary disorders characterized by osteoclast dysfunction resulting in abnormally dense bone and excessive skeletal mass with paradoxical bone fragility. Heinrich Albers-Schönberg, a German gynecologist and radiologist (born in 1891), first described osteopetrosis in 1904 [1]. Since then many types of the disease have been identified, and in 1963, Harry Mullins Worth, a British radiologist (born in 1897) who graduated with degrees in dentistry and medicine, and worked in the UK as well as Canada, introduced the term osteopetrosis (from the Greek “osteo” meaning bone and “petros” meaning stone) because of the rock-like appearance of the bone [2,3]. Osteopetrosis has for decades been categorized by its clinical severity and inheritance pattern into a malignant infantile autosomal recessive form, an intermediate autosomal recessive form and an adult autosomal dominant form, which is the most benign type, frequently identified incidentally [4,5]. The incidence of these conditions is estimated about 1 in 250,000 live births for autosomal recessive osteopetrosis (ARO) and about 1 in 20,000 live births for autosomal dominant adult type (ADO) [3]. The disease is more frequently seen in ethnic groups where consanguinity is common [6]. Recent advances in genetics progressively allow the classification of osteopetrosis by its underlying molecular pathogenesis [5]. Mutations in at least 10 genes have been identified in humans, accounting for 70.0% of all cases, among them TCIRG1, CLCN7 and CAII [3]. Infantile osteopetrosis can manifest with severe bone marrow failure that can mimic hematological malignancy including anemia, thrombocytopenia, leukopenia, susceptibility to infections and hepatosplenomegaly. Narrowing of osseous foramina can lead to compressive cranial neuropathies, vision impairment and deafness [5,7-9]. If therapy is unsuccessful, death occurs by early childhood as a result of bleeding, anemia or infection [9]. In a setting of intense positive body calcium, rickets is a paradoxical complication of osteopetrosis, a condition called osteopetrorickets. This case reports osteopetrorickets in an infant with coexisting congenital cytomegalovirus (CMV), infection, successfully treated by bone marrow transplantation (BMT).

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