Familial Metaphyseal Dysplasia

Abstract

This paper reports two cases of familial metaphyseal dysplasia involving a brother and sister. These cases are being added to the 4 cases previously reported in the literature. Report Of Cases Case I: A 53-year-old white male, a laborer, was first seen at Bay Pines Veterans Administration Center on Aug. 10, 1953, with osseous lesions discovered elsewhere roentgenographically and attributed to Gaucher's disease. He had been completely asymptomatic until 1942, when he began to experience intermittent pain in the knees, back, right shoulder, and proximal interphalangeal joints of both hands. He also had some swelling of the right knee. This was thought to represent an osteoarthritis. Roentgenograms taken in 1943, however, showed widening of the proximal and distal ends of the tibia, and at that time a diagnosis of Albers-Schönberg disease was made. In 1946, these bony changes were again noted, and it was at this time that the diagnosis of Gaucher's disease was made, though a biopsy taken from the right tibia the year before had been negative for that condition. The patient had had the usual childhood diseases but gave no history of rickets, scurvy, or syphilis. He had had no headaches, visual disturbances, or other abnormalities. In 1942, he had received surgical treatment for Dupuytren's contracture of the right hand. He was unaware of the existence of bony abnormalities in other members of his family. Except for one sister, he had been out of contact with his 6 sisters and 2 brothers for many years. Rectal examination revealed some hypertrophy of the prostate. Examination of the skeletal system disclosed palpable widening of all long bones, including the phalanges at their metaphyseal ends. There was no impairment of active or passive movements. The gait was normal and there was no evidence of abnormal length of the extremities The head was normal except for some prominence of the temporal bones. Serologic tests, blood counts, and urinalysis were normal. Serum calcium was 9.98 mg. per 100 c.c.; inorganic phosphorus, 2.54 mg. per 100 c.c.; alkaline phosphatase 2.5 units. Roentgen Findings: The skull (Figs. 1 and 2) was narrowed at its base in the transverse diameter. The sella turcica was small and there was some thickening of the posterior clinoids. Except for the maxillary sinuses and a few anterior and middle ethmoid cells, there was agenesis of almost all the paranasal sinuses. The maxillary sinuses and anterior and middle ethmoid cells were hypoplastic. The long bones, hands, and feet are shown in Figures 3-10, 14, and 15. The humeri were moderately thickened, club-shaped proximally, and curved laterally. Only the proximal two-thirds were involved. The cortex was markedly thinned, while the normal trabecular pattern of the medullary portions of the bones was replaced by a homogeneous ground-glass appearance.