KUMJ | VOL. 20 | NO. 1 | ISSUE 77 | JANUARY - MARCH, 2022
Malignant Infantile Osteopetrosis with Bone Marrow Involvement
Khadga M, AZM Raihanur Rahman, Md Benzamin, Ahamed N, Akter S, Nahid-E-Subha, Hasan M, Khan LN, Md Rukunuzzaman
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-monthold
male
infant
diagnosed
as
malignant
infantile
osteopetrosis,
who
presented
with
bronchopneumonia,
anemia,
thrombocytopenia,
hepatosplenomegaly,
failure
to thrive (FTT).
Keyword : Fatal, Genetic, Malignant infantile osteopetrosis
