An unusual cystic lesion of bone, limited to the pelvis and lower extremities; osteogenesis imperfecta cystica?

Abstract

This is a single case report of an unusual bone lesion in a young Negro male. The diagnosis was complicated by major abnormalities in several other systems of the body, which may or may not be related. Roentgenograms taken at an interval of four years were available for study and two biopsies were done. A 26-year-old Negro (Fig. 1) was first seen at North Carolina Memorial Hospital on Aug. 26, 1954. He and his parents were unreliable in relating his history and had little sense of the passage of time. It was established that he was in good health until the age of three to six years. Sometime during that interval, while he was kneeling to pray, his legs suddenly gave way beneath him. Since then he had had “crooked legs” and had been bedridden. Four or five years after the initial mishap, sinuses exuding blood and pus appeared on both thighs. In 1950, the patient was examined in another hospital, where he was found to have anemia and hypertension (230∕150), as well as marked deformity of the lower extremities. Amputation was suggested but was refused. Films obtained at that time were made available for the present study. Family History: The patient had two siblings who died of tuberculosis, and four younger brothers had died in infancy of unknown causes. To the knowledge of the family, none had anemia or deformity of the limbs. Both parents were reported to be in good health. Physical Examination: The oral temperature was 97.8° F., pulse 100, respirations 44 per minute, blood pressure 120∕80. The patient had the head of a man but the torso of a boy. He appeared acutely and chronically ill. He did not complain of pain but was quite dyspneic. The sclerae were normal in color. The fundi showed brownish streaks on the retinae, and there were arteriolar thinning and narrowing with increased tortuosity. The tongue and oral mucosa had a brownish tinge. The heart was enlarged, with regular rhythm and a grade II systolic murmur heard best at the apex. The liver was palpable just below the costal margin, but the spleen was not felt. The testes were quite small, the penis was of normal size, and axillary and pubic hair was sparse. The upper extremities appeared normal, but the lower extremities were misshapen, enlarged, and grotesque. There were flexion contractures of both hips, knees, and ankles, with severe limitation of passive motion. The patient himself could move only his toes. Sinuses, draining pus and blood, were present on the lateral aspect of the right thigh and the anterior aspect of the left thigh. On the left a bony sequestrum could be palpated and seen but could not be extracted.