James E. Wenzl

Tuberous sclerosis presenting as polycystic kidneys and seizures in an infant

Summary Convulsions and polycystic kidneys were the only manifestations of tuberous sclerosis in a 3-month-old infant. The proper diagnosis was not made and a poor prognosis for life given. Five years later the diagnosis was evident because of typical skin lesions and severe mental retardation. Renal biopsies at the time of the original abdominal exploration might have allowed suspicion of the proper diagnosis had this uncommon cause of cystic disease been considered.

Punctate epiphyseal dysplasia, another cause of leg length inequality.

Summary A case of punctate epiphyseal dysplasia which was followed for 8 years and 3 months is presented. The course of the disease in this instance was relatively benign, but the patient displayed residual shortening of the involved extremity, for which surgical therapy was instituted. This entity can be added to the list of causes of inequality of leg length. Since the distinctive signs may disappear before the inequality of development becomes evident, this disease may be the cause of such inequality more often than is realized.

Basic Science Review : The Exudative Gastroenteropathies

uent digestive products are reabsorbed, but the process exceeds the body’s capacity for resynthesis of plasma proteins. Plasma protein synthesis is normal or increased, and there may be no measurable external loss of protein from the body, but the patient nevertheless exhibits hypoproteinemia. It must be emphasized that the terms &dquo;exudative enteropathy&dquo; and &dquo;exudative gastroenteropathy&dquo; do not refer to specific disease entities but to physiologic disturbances. This pathologic exsorption is demonstrable in a heterogeneous group of diseases, and in this respect is comparable to the finding of albuminuria or melena.