X-linked Hypophosphatemia ( A Report of 6 Patients in a Family) / 实用放射学杂志

ABSTRACT

Objective To improve the recognition and diagnosis of X-linked hypophosphatemia (XLH). Methods Six subjects (2 males and 4 females, ranged in age from 12 to 66 years ) with XLH of 3 generations in one family were investigated and studied. All cases were proved by clinical biochemistry tests. Plain film of skull, hands and wrist joints, thoracic and lumbar vertebrae, pelvis, knee joints and tibiofibulae were performed in 2 selected patients.Results The clinical features were characterized by short stature, bowing deformity of the lower extremity, pain in bone and article and hypophosphatemia. The pathognomonic X-ray finding were (1) limb deformity bow tibia, gonyectyposis or gonycrotesis with "O" shaped or "X" shaped legs; (2) enlargement of bone end, articular surface hazy with cytic degeneration; (3) Looser zone and bony septum in lower limbs; (4) flared metaphysis with brush change; (5) signs of bone turn over; (6)coarse or reticulated trabecula of cancellous bone; (7) spongy transformation of cortical bone; (8) double-framed vertebral body and cotton wool appendage signs; (9) rarefied zone beneath epiphysis in ilium; (10) brush appearance of symphysis pubis and sacroiliac joint; (11) flat or triangle shaped pelvic outlet; (12) multiple teeth droped. Conclusion The diagnosis of XLH can be established by close combination of radiologic findings and clinical manifestations.