Infantile Malignant Osteopetrosis: Delay in Diagnosis Eliminates Chance of Cure

A 4.5 year-old girl presented with abdominal distention, failure to thrive, visual and hearing loss. In her medical history there was meningitis in the neonatal period, convulsions, enlargement of her head, nistagmus and exophtalmus at the tenth month. When she was 15 month-old, she had ventriculoperitoneal shunt and surgical transection of the filum terminale due to tethered cord. When she was 3 yearold she had headaches and swallowing difficulties and she underwent suboccipital craniectomi and C1 laminectomi. On admission to our Center she had normal mental and motor development, high arched palate, only three teeth, hepatosplenomegaly, weight and height below 3 percentile, leukoerythroblastic anemia and thrombocytopenia. Roentgenograms of bones showed sclerosis and no medullary tissue could be obtained in bone marrow biopsy. Diagnosis was infantile malignant osteopetrosis but the patient can not be referred to bone marrow transplantation due to delay in diagnosis and irreversible visual and hearing loss and lack of medullary space for marrow engraftment.