Infantile Autosomal Recessive Osteopetrosis

บทคัดย่อ

Abstract :

An 8 month-old boy presents with anemia and thrombocytopenia since two months of age.
Physical  examination reveals macrocephaly, bilateral proptosis and marked hepatosplenomegaly. Peripheral
 blood smear shows leukoerythroblastosis. A diagnosis of infantile autosomal recessive osteopetrosis
 is made based on characteristic clinical findings, peripheral blood morphology and characteristic
 radiograph  findings of osteopetrosis and rickets. Osteopetrosis is an uncommon entity, however
easily  diagnosed  by clinical, peripheral blood smear findings and bone radiographs. Clinicians should
consider  this condition in children who present with anemia, thrombocytopenia, hepatosplenomegaly
and neurodevelopmental  abnormalities.