Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review

Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented in three reports. Here, we present the case of a 12-year-old girl with a history of recurrent respiratory infections, hypotonia, developmental delay, genu valgum, and hepatosplenomegaly. Radiographs revealed profound, ivory-white sclerosis of the metaphyses and epiphyses of the long bones in both the upper and lower extremities. Sclerosis also affected the ends or margins of the flat bones, including the mandible, clavicles, scapulae, ribs, iliac crests, ischia, pubic bones, talus, calcaneus, and some vertebrae, to varying degrees. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. Our patient is the fifth case of OMD reported in the international literature and shares clinical and radiological similarities with four other reported cases of OMD. However, the extensive interstitial pulmonary lesions observed on computed tomography images in the present case have not been previously documented. This pulmonary disorder, which may be associated with OMD, should be evaluated in subsequently encountered cases.