Arteriohepatic dysplasia (Alagille's syndrome) is presumed to be one of the familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both. We report the findings in five patients with this syndrome, four of whom have been followed into adulthood. In addition to hepatic dysfunction, patients had abnormalities of the cardiovascular system, eyes, bones, central nervous system, kidney, endocrine system, and habitus. Analysis of these cases allows a more complete characterization of this syndrome and shows that the cholestasis improves, although the abnormalities of the hands and face become more pronounced, with age. Patients with arteriohepatic dysplasia display the variability in expression seen in many autosomal-dominant conditions. New findings in the eye and spine provide markers specific for this syndrome and serve to differentiate it from other forms of cholestatic liver disease.
Abstract. Twenty-three pairs of proximal humeri obtained from human cadavers ranging in age from fullterm stillborn to fourteen years were studied morphologically and radiographically. Roentgenograms of the specimens demonstrated the osseous and cartilaginous portions of the epiphyses, using air/cartilage interfacing. Comparable clinical simulations were obtained by using water immersion of the specimens. The metaphyseal cortex remained thin and trabecular near the physis. Histologically this area had multiple fenestrations, which provide a potential pathway for childhood osteomyelitis into the subperiosteal space, and may also affect the biomechanics of this region (i.e., susceptibility to Salter epiphyseal fractures). As skeletal maturity was reached, thicker cortical (osteonal) bone extended toward the physis. The epiphyseal secondary ossification centers form an osseous connection shortly after the appearance of greater tuberosity ossification center, although this may not be radiologically evident until the child is older. The major intent of this roentgenographic survey is to provide a reference index of proximal humeral development for the adequate interpretation of shoulder radiography in children who have not yet attained skeletal maturity.
Recent studies have emphasized the pathophysiological importance of circulating 1,25-dihydroxyvitamin D ((1,25-(OH)2D] in the pathogenesis of hypercalciuria and renal stone formation in primary hyperparathyroidism. Reasoning that phosphate administration might be capable of reducing the plasma concentration of 1,25-(OH)2D in patients with a prominent 1,25-(OH)2D-mediated absorptive component to their disease, 10 carefully selected patients were treated with oral phosphate (1500 mg elemental phosphorus daily) for 1 yr. Phosphate treatment significantly reduced circulating 1,25-(OH)2D levels (84 to 56 pg/ml), the calciuric response to an oral calcium tolerance test (0.30 to 0.21 delta mg calcium/dl GF), and calcium excretion on an unrestricted calcium diet (438-269 mg/day), in essence reversing the absorptive pattern of abnormalities observed before treatment. This response, however, was accompanied by an increase in biochemical hyperparathyroidism, as assessed by circulating immunoreactive PTH and nephrogenous cAMP excretion. In patients with biochemical evidence of an increase in bone resorption before therapy, histomorphometric, radiographic, and biochemical data revealed a trend toward a reduction in bone turnover during phosphorus therapy, with an apparent maintenance of coupled bone resorption and bone formation. This trend, however, was of marginal statistical significance in the patient group as a whole. It is concluded 1) that phosphate therapy represents a viable medical alternative in selected patients with primary hyperparathyroidism, 2) that the net response in treated patients is multifaceted and complex, and 3) that the efficacy of phosphate therapy will ultimately depend upon its long term effects on skeletal homeostasis.
The hands of 29 chronic dialysis patients were evaluated every 3 months for subperiosteal, intracortical, and endosteal bone resorption using fine-detail radiography and optical magnification. All patients with significant endosteal resorption also had progressive subperiosteal resorption and substantial or progressive intracortical resorption. All patients with a significantly elevated parathyroid hormone or alkaline phosphatase level had radiographic evidence of progressive bone loss. Fourteen (61%) of the 23 patients with well-controlled serum phosphate levels (mean 4.7 +/- 0.2 mg/dl) treated with supplemental calcium and dihydrotachysterol nevertheless had increased subperiosteal or endosteal resorption. Serial radiography proved to be a valuable method of evaluating progressive bone resorption.
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