Infantile Malignant Osteopetrosis: Delay in Diagnosis Eliminates Chance of Cure.

Osteopetrosis a report of two Iranian patients with autosomal recessive inheritance pattern

In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

Infantile or malignant osteopetrosis: case report of two siblings.

Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy r...

Infantile malignant osteopetrosis with interesting bone marrow biopsy findings

Osteopetrosis also known as Albers-Schonberg disease or marble bone disease is a rare genetic metabolic bone disorder characterized by a marked increase in bone density caused by a defect in bone remodeling due to failure of normal osteoclast function. It is classified into three forms: Infantile malignant autosomal recessive osteopetrosis, intermediate osteopetrosis and autosomal dominant (AD)...

Malignant infantile osteopetrosis: case report with review of literature

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic e...

Osteoblasts in the Vicinity of Osteoclasts in a Case of Infantile Osteopetrosis