A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

Osteopetrosis comprises a group of rare inherited disorders of the bones characterized by a common radiographic finding of increased bone thickness. The disorders vary genetically as well as clinically, and range in severity from mild manifestations to fatal complications based on the type of the disorder. Malignant infantile osteopetrosis (MIOP) is a less common, more severe form of the disease with most affected individuals surviving up to only the first few years of life if left untreated. We present a previously diagnosed case of the malignant infantile type who was brought to our attention for convulsions. Antiepileptic medications were started along with supportive therapy. CT scan revealed a large frontal lobe hemorrhage, which was suspected as a possible cause of the seizures, other than the progressively worsening hypocalcemia. Laboratory investigations also revealed pancytopenia and blood cultures positive for staphylococci, which were treated accordingly. Genetic testing and hematopoietic stem cell transplantation could not be performed due to financial constraints and the rapidly deteriorating condition of the patient. Unfortunately, the baby expired two weeks from the day of admission. This case highlights a rare and grave clinical manifestation of MIOP and brings to attention the significance of bone marrow transplantation as the only curative therapy of the disease.

Keywords: convulsions; genetic; hematopoietic stem cell transplant; hemorrhage; hypocalcemia; malignant infantile osteopetrosis; pancytopenia.