Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures

Abstract

Background: Osteopetrosis includes a variety of rare inherited skeletal disorders characterized by increased bone density and thickness. It has different clinical forms, including infantile autosomal recessive, intermediate autosomal recessive, and late-onset autosomal dominant forms. Intermediate autosomal recessive osteopetrosis (IARO) displays high variability. Case Report: A 10-year-old male presented to our pediatrics emergency department with abdominal distension, low-grade fever, and swelling of the right maxilla with associated discharge. His local physician had treated the lesion with drainage and aspiration of pus without improvement. Examination revealed pallor, hepatosplenomegaly, poor dentition, and dental caries. Eye examination showed reduced visual acuity, absent color vision, nystagmus, and bilateral optic nerve atrophy. Laboratory investigations showed anemia and thrombocytopenia. Radiography yielded classic features of osteopetrosis. Detailed intraoral examination revealed an area of exposed necrotic bone in the alveolar region of the right maxilla, leading to a diagnosis of IARO with underlying osteomyelitis. The intraoral wound was treated with bismuth iodoform paraffin paste dressing, and the infection was treated with antibiotics. Anemia and thrombocytopenia were managed supportively by transfusion of packed red blood cells and platelets. Conclusion: IARO commonly presents with multiple fractures, so the absence of fractures in our patient was unusual. Studies evaluating the intermediate variant are meager; hence, documenting its various presentations is essential to aid physicians in making early diagnoses. Osteomyelitis of the jaws is a feared complication in these patients. Therefore, practitioners need to be cautious of infections of dental origin.

Keywords: Genetic diseases–inborn; osteomyelitis; osteopetrosis.