Persistent pseudohypoaldosteronism in a 7-year-old boy.

Pseudohypoaldosteronism has been described as a syndrome presenting early in life with profound salt wastage, failure to thrive, and lethargy. The mechanism of sodium loss is renal, not related to aldosterone production. Previous cases have been transient, responding to supplemental salt therapy which was discontinued after one to two years. A child whose pseudohypoaldosteronism was first diagnosed in infancy and whose salt loss persisted to 7 years of age is described.

Technetium colloid bone marrow imaging in Fanconi's anemia.

Four patients with Fanconi's anemia were evaluated with 99mTc-sulfur colloid bone marrow scans. The scans revealed similar paradoxical and irregular tracer distribution in all four patients. Normal to increased activity was demonstrated in the proximal metaphyses of the humeri with varying degrees of increased activity in more primitive marrow sites in the distal diaphyses of the humeri and tibia, the distal metaphyses of the humeri and femora, and the proximal metaphyses of the ulnae, radii, and tibia. Skip areas of normal distribution were seen in the proximal diaphyses of the humeri and femora. Although the scan reflects only the reticuloendothelial portion of bone marrow, it may be of some value in the differential diagnosis of pancytopenia.

Brief clinical report: deletion of the long arm of chromosome 11, [del(11)(q23)].

We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 leads to qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q-syndrome.

De novo partial 2p duplication with postmortem description.

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.

Training future leaders of academic medicine: internal programs at three academic health centers.

The authors review the need for internal programs for leadership training at academic health centers and then describe in detail three programs of this type that have operated during the 1990s: (1) the Allegheny Leadership Institute, founded by the Allegheny Health, Education and Research Foundation, Pittsburgh, Pennsylvania; (2) the Physician Executive Management Development Program (PEMDP) of Saint Louis University School of Medicine; and (3) the University of Nebraska Medical Center Leadership Institute. Educational elements common to these programs include having a small class size and participants from many areas of academic medicine and health care, focusing on educational strategies that draw on participants' experiences and training, conducting the training away from the participants' institutions, having short sessions, using faculty from both within and outside the participants' institutions, and creating strategies to reinforce learning. Lessons learned reflect the unique context of each institution; the authors list the major lessons learned by each of the three programs they surveyed (e.g., leaders of the Saint Louis University PEMDP program believe that it is important to help participants implement desired changes in their work areas once they return to work, and are investigating how to do this). The authors conclude with an extensive list of recommendations to optimize the effects of leadership development training carried out in AHCs' internal programs (e.g., "Focus on specific skills that can be learned, and link the learning experiences to real work situations in health care and higher education") and explain why they think internal leadership institutes have at least three distinct advantages over external programs.

Fatal aortic rupture presenting as chest pain in an adolescent. The role of echocardiography in occult cystic medial necrosis.

An adolescent female with occult cystic medial necrosis died following spontaneous aortic rupture. A large saccular aortic aneurysm that had ruptured into the pericardial space was demonstrated by two-dimensional echocardiography and confirmed at surgery. Echocardiographic screening of the patient's family members revealed a 13-year-old brother with unsuspected aortic root dilatation. He is now being followed for possible progression of his disease. This case demonstrates the role of echocardiography in cystic medial necrosis. It can aid the acute management of patients with aortic dissection or aneurysm. It can also define patients with occult disease who require serial follow-up and genetic counseling.

Cardinal Glennon Memorial Hospital for Children, St. Louis -- genetic unit offers diagnosis, counseling.

A prenatal history, complete family pedigree, physical examination, and laboratory studies help to determine whether patients' traits and diseases are hereditary or environmental. The geneticist offers genetic counseling to inform couples of the risks entailed in their bearing a child.

Medullary cystic disease vs nephronophthisis. A valid distinction?

It has been proposed that medullary cystic disease and nephronophthisis are distinguishable by the mode of inheritance and the age of onset. The former is inherited as an autosomal dominant, the latter as an autosomal recessive, with the onset at the average age of 26.7 years and 10.5 years, respectively. The present kindred would appear to have a dominant inheritance and onset at 10.1 years of age. This emphasizes the importance of examining those families in whom medullary cystic disease is suspected, prior to genetic consultation.