Neurological involvement in X-linked hypophosphataemic rickets.
نویسندگان
چکیده
X-linked hypophosphataemic rickets is a familial form of Vitamin D resistant rickets in which gross bony and ligamentous changes may occur. Two patients showing severe spinal disease with evidence of spinal cord compression requiring neurosurgical intervention are reported. The management of such lesions may be problematic as cord compression may be found at several levels at presentation, and further difficulties develop after neurosurgical treatment.
منابع مشابه
The molecular background to hypophosphataemic rickets.
Bone mineral loss disorders are major, worldwide health concerns, and can be familial, idiopathic, oncogenic, dietary, or hormonal. The mechanisms controlling bone integrity are complex. Extensive research has been directed towards the characterisation of the key factors involved in bone mineral regulation and two specific bone diseases, X-linked hypophosphataemic rickets (HYP) and oncogenic hy...
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Hypophosphataemic rickets is commonly an X linked dominant hereditary disorder associated with a renal tubular defect in phosphate transport and bone deformities. The gene causing this disorder has been mapped to Xp22.31----p21.3 by using cloned human X chromosome sequences identifying restriction fragment length polymorphisms (RFLPs) in linkage studies of affected families. The hypophosphataem...
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X-linked hypophosphataemia is the most frequent cause of familial rickets resistant to treatment with physiological amounts of vitamin D [1-3]. It is also one of the great mysteries of metabolic bone disease, since so little is known about phosphate regulation. However in the past decade research on phosphate transport in this disorder has been considerably illuminated by studies on the hypopho...
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INTRODUCTION Hypophosphataemic rickets (HR) is a rare hereditary disease characterised by hypophosphataemia, defects in bone mineralisation and rickets. MATERIAL AND METHODS We searched the hospital files at H.C. Andersen Children's Hospital, Odense University Hospital, Denmark, for children with the International Classification of Diseases 10 codes E83.3B (vitamin D resistant rickets) and E8...
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We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalac...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 50 6 شماره
صفحات -
تاریخ انتشار 1987