Search

We report on two Dutch sibs with external anomalies compatible with Bartsocas–Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients. © 1994 Wiley-Liss, Inc.

2 boys had unilateral Perthes' disease at the age of 5 years. After 6 and 7 years, respectively, both patients developed contralateral femoral head necrosis with rapid destruction leading to ankylosis of the hip. Histology of the synovium showed nonspecific synovitis. Both patients fulfilled criteria for oligo-articular juvenile chronic arthritis (JCA). The association with Perthes' disease suggests a common etiology.

Background: Infant mortality of ethnic minorities in The Netherlands (10% of the population) is twice as high as in the indigenous Dutch population. Causes of death are different for the diverse migrant groups. Methods: Hospital records of nearly 600 infants who died in the four major cities between 1995 and 1998 were analysed according to the cause of death, ethnicity, and possible hereditarity. Results: There was a four to five times higher proportion of hereditary causes of death in the Moroccan and Turkish population, compared with the Surinamese/Antillians and indigenous Dutch. Conclusions: This might be explained by a high inbreeding coefficient as three-quarters of the marriage partners are recruited from the home villages and between a quarter and a third of these marriages are between first cousins. Health promotion activities in The Netherlands have not been successful so far. Preconception genetic counselling might help in reducing these differences.

A 5-year-old boy known to have tuberous sclerosis was admitted with an abdominal aortic aneurysm. The aneurysm was resected and replaced by a bifurcation prosthesis. Follow-up, which amounts up to 4 years, has been uneventful. Prompt recognition and surgical treatment are essential in the management of this rare but potentially lethal condition.

To evaluate the relationship between histologic parameters and clinical data, we studied thymus histology in 234 fetuses and young children who died after a short period of acute illness. Thymus weight and volume percentages of interstitium, cortex, and medulla were significantly related to prenatal or postnatal status and age of the patient. Thymus weight was related to the duration of acute illness only in prenatal patients. The histology, categorized in five grades according to appearance of macrophages (with a starry-sky aspect) in the cortex, increase of inter-lobular interstitium, and lymphodepletion of the cortex, correlated significantly with the duration of acute illness and not with any other clinical parameter. This finding enables the pathologist to estimate the duration of acute disease before death.

• Cultured thymic fragments were implanted in one patient with acquired immunodeficiency syndrome (AIDS)-related complex (ARC) and in eight AIDS patients with opportunistic infections (Ols, four patients), Kaposi’s sarcoma (KS, two patients), or both (two patients). Thereafter, objective clinical improvement was noted in one patient with 01, and a stable symptom-free condition was observed in the ARC patient and in two other patients with Ols. However, the ARC patient and two of the three patients with Ols developed infections three to six months after implantation. A fourth case of 01 and the patients with KS showed progression of the disease. Peripheral blood investigations for counts of total leukocytes, lymphocytes, and T-lymphocyte subsets as well as for lymphocyte stimulation with mitogens showed no changes interpretable as an improvement of the cellular immune deficiency status. We conclude that cultured thymic fragments have no distinct in vivo effect on the course of AIDS, except for a temporary clinical improvement or a period of stable condition in some patients with Ols.