Publication: Malignant Infantile Osteopetrosis with Bone Marrow Involvement
Date
2022
Article Type
Case Report
Journal Title
Journal ISSN
1812-2027
Volume Title
Pages
Pages: 107 - 110
Publisher
Kathmandu University
Abstract
ABSTRACT
Osteopetrosis (Marble bone disease) is a very rare congenital genetic disease of
skeleton, resulting from defective bone resorption, due to functionally defective
osteoclast, leading to accumulation of excessive bone mass. Malignant infantile
osteopetrosis (MIO) is one of the varieties of osteopetrosis, which is fatal and
is diagnosed in early infancy. Malignant infantile osteopetrosis is present with
abnormal bone remodeling, hematological abnormities, features of extramedullary
hematopoiesis. Radiology is the key of diagnosis. In this case, we present a 5-month-
old male infant diagnosed as malignant infantile osteopetrosis, who presented with
bronchopneumonia, anemia, thrombocytopenia, hepatosplenomegaly, failure to
thrive (FTT).
KEY WORDS
Fatal, Genetic, Malignant infantile osteopetrosis
Description
Khadga M, AZM Raihanur Rahman, Md Benzamin, Ahamed N, Akter S, Nahid-E-Subha, Hasan M, Khan LN, Md Rukunuzzaman
Department of Pediatric Gastroenterology and Nutrition
Bangabandhu Sheikh Mujib Medical University (BSMMU)
Dhaka, Bangladesh
Keywords
Fatal, Genetic, Malignant infantile osteopetrosis