Pseudohypoparathyroidism (pseudo HPT) is the prototype of a group of diseases with end organ unresponsiveness to parathyroid hormone (PTH). Patients with the classic form of this disease have both renal and osseous resistance to PTH. We describe a rare variant of pseudo HPT with classic renal unresponsiveness to PTH but normal skeletal responsiveness to this hormone. The latter patients develop metabolic bone disease in response to depressed calcium and elevated PTH levels. Skeletal abnormalities are histologically and radiologically indistinguishable from renal osteodystrophy and these patients frequently present in childhood with symptoms relating to slipped capital femoral epiphyses. The latter radiologic findings, in the face of normal renal function or the classic somatic features of the syndrome, are highly suggestive of pseudo HPT with normal skeletal responsiveness to PTH.
Repair of tibial fractures in osteopetrotic rats was delayed in comparison to that of normal littermates, due to reduced remodeling. Reduced bone resorption, known to be the cause of the disease in this mutation, is expressed in both skeletal development and fracture repair. The possible implications for human juvenile osteopetrosis are discussed.
A case of a choledochal cyst is described in which the correct diagnosis was obtained preoperatively by ultrasound. The cyst contained calculi. A specific preoperative diagnosis will lead to lower operative morbidity and mortality.
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