David C. Hardy

X-linked Hypophosphatemia: A Clinical, Biochemical, and Histopathologic Assessment of Morbidity in Adults

Research and management of XLH have concentrated on the disease in childhood, and the natural history and morbidity of XLH in adult life are thus poorly understood. We have studied 22 adults (6 men) with XLH to clarify these aspects of this most common inherited form of rickets and osteomalacia. Most study participants had presented with rickets in early childhood and had undergone tibial osteotomies on at least 1 occasion. Seventeen individuals had genu varum, 1 had genu valgum, and 4 had straight legs, attributable to successful osteotomies in 2. Five subjects reported increasing lower limb deformity in the late teens or subsequently. Eight subjects complained of bone pain, 6 of whom had radiologic evidence of pseudofractures; pseudofractures were found in 4 additional asymptomatic individuals. None of 16 subjects who underwent transiliac bone biopsy had normal double tetracycline labeling; accordingly, all were considered to have osteomalacia. Bone pain was associated with a relative osteoid volume in excess of 25%. Relative osteoid volume was inversely related to serum 1,25(OH)2D concentration (r = -0.74, p less than 0.02), but unrelated to serum concentrations of calcium and phosphate or their product. Eighteen participants complained of joint pain, predominantly in the knees and ankles. The severity of joint pain correlated with the degree of lower limb deformity (p = 0.011) which, in turn, was related to fasting serum phosphate concentration (r = -0.56, p less than 0.025) and TmP/GFR (r = -0.70, p less than 0.005). Enthesopathy affected 33% of those younger than 30 years, and all those above this age. Nineteen individuals had experienced significant dental problems, most commonly abscess formation. Eight had required complete dental clearance. Twelve women from the group had a total of 22 live births. Fifteen of these were by cesarean section, although radiologic evidence of pelvic narrowing was not found in any subject. Serum ALP was elevated in all but 3 of the 18 untreated subjects. Levels correlated with those of other indices of bone turnover (BGP r = 0.82, p less than 0.005; urine total HP r = 0.60, p less than 0.025; urine free HPr = 0.78, p less than 0.005), but were not related to the degree of osteomalacia found on bone biopsy. Serum levels of iPTH, 25(OH)D, 1,25(OH)2D, and thyroid hormones were generally normal in the untreated patients. We conclude that adults with untreated XLH have osteomalacia that is frequently symptomatic. Even greater morbidity is caused by degenerative joint disease arising from lower limb deformities.(ABSTRACT TRUNCATED AT 400 WORDS)

Malignant transformation of aneurysmal bone cyst, with an analysis of the literature

An 11‐year‐old girl had a lytic, benign‐appearing, expansive lesion of the distal tibia radiologically interpreted as an aneurysmal bone cyst (ABC). Tissue from two extensive curettage procedures was also histologically diagnosed as ABC. Approximately 50 months after the onset of symptoms, and 28 months after her last curettage, a highly pleomorphic osteosarcoma developed. The patient had not received prior radiation therapy. The cases in the literature of possible malignant transformation of ABC are reviewed. The authors separate their case from telangiectatic osteosarcoma, and from “ aneurysmal bone cyst‐like osteosarcoma”.

Arthrographic evaluation of the carpal triangular fibrocartilage complex

One hundred sixty-two patients had analyses for correlation of triangular fibrocartilage abnormalities (TFCC), with duration and location of pain and other possible associated radiographic, scintigraphic, and arthrographic abnormalities. Results indicated that TFCC perforations did not correlate with any pain complex or other associated radiographic, arthrographic, or scintigraphic abnormality. No association with carpal instability or with ulnar variance could be identified. No definition between perforations that were posttraumatic and those that were the results of a degenerative process could be made. Several small defects on both the proximal and distal surfaces of the TFCC were identified. They do not appear to have been reported previously in the literature. Their significance is discussed.

Posteroanterior wrist radiography: Importance of arm positioning

Proper interpretation of wrist radiography requires a standardized radiographic technique. We obtained posteroanterior (PA) radiographs of the wrist in nine patients in three different arm positions to study the effect of arm position on ulnar styloid process orientation. An appearance simulating a normal anteroposterior (AP) wrist radiograph was present in six of nine PA radiographs when the arm was positioned next to the trunk, and the elbow was flexed to a 90% angle. The orientation of the ulnar styloid was not helpful in differentiating either pronated from supinated wrist positions or AP from PA projections. We concluded that radiographic screening of the carpus should be performed with standardized wrist positioning and nomenclature as described in modern radiographic technological texts. Supplemental projections should be exposed and interpreted with an understanding of the position of the arm and the direction of the incident radiographic beam at the time of examination.

Arthrography after total hip arthroplasty: utility of postambulation radiographs

We compare pre-and postambulation arthrograms in 24 patients with total hip arthroplasty. In nearly half (42%) of these cases, the arthrographic evidence of a loosened prosthesis was more obvious after ambulation. Three patients (12.5%) had components which were normal by arthrographic criteria before walking, but were abnormal afterwards. We conclude that postambulation radiographs are valuable in patients who are examined for suspected loosening of prosthetic components.

Arthrographic surface anatomy of the carpal triangular fibrocartilage complex

In a review of 364 radiocarpal and 123 distal radioulnar joint arthrograms we identified 44 (12%) patients with contrast defects at either the proximal or distal surface of the carpal triangular fibrocartilage complex (TFCC). Differences in their arthrographic characteristics distinguished two separate groups of patients; one with similar and another with dissimilar appearing TFCC surface contrast collections. Thirty-one of our 44 patients had similar appearing, isolated radial-sided collections at either the proximal or distal TFCC surfaces. Our arthrographic, demographic, and historical study of these patients suggests that the collections are not caused by traumatic partial TFCC tears but represent a normal anatomic variant, probably a synovial recess at the radial TFCC attachment. Arthrography and dissection of a limited number of cadaveric specimens confirmed this conclusion. The second group included the remaining 13 patients. This group had contrast collections at either the proximal or distal TFCC surface, which varied in location and appearance. This smaller group is more likely to represent those uncommon patients with partial TFCC defects caused by tears.

In vivo analysis of single, pre- and postprocessing quantitative CT techniques.

Measurements of bone mineral using single and dual-energy quantitative computed tomography (CT) are examined in vivo in 108 vertebral bodies scanned on a Siemens DRH scanner. Pre and postprocessing dual-energy techniques are compared. In the range of clinically useful kilovoltage, the choice of beam energy does not make a significant difference to the single-energy bone mineral measurement. Postprocessing dual-energy measurement in vivo shows a statistically significant decrease in the amount of mineral measured compared to single-energy measurements, whereas the preprocessing measurement shows a significant increase.